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33 results on '"(Zadro, R"'

1. Induction of adipocytic differentiation in myxoid liposarcoma: new approaches to improve the effectiveness of the available therapies

Author

Meroni, M, Craparotta, I, Mannarino, L, Zadro, R, Morosi, L, Matteo, C, Bello, E, Ubezio, P, Zucchetti, M, Renne, S, D’Incalci, M, Frapolli, R, M. Meroni, I. Craparotta, L. Mannarino, R. Zadro, L. Morosi, C. Matteo, E. Bello, P. Ubezio, M. Zucchetti, S. L. Renne, M. D’Incalci, R. Frapolli, Meroni, M, Craparotta, I, Mannarino, L, Zadro, R, Morosi, L, Matteo, C, Bello, E, Ubezio, P, Zucchetti, M, Renne, S, D’Incalci, M, Frapolli, R, M. Meroni, I. Craparotta, L. Mannarino, R. Zadro, L. Morosi, C. Matteo, E. Bello, P. Ubezio, M. Zucchetti, S. L. Renne, M. D’Incalci, and R. Frapolli

Published
2024

2. Genomic instability analysis in DNA from Papanicolaou test provides proof-of-principle early diagnosis of high-grade serous ovarian cancer

Author

Paracchini, L, Mannarino, L, Romualdi, C, Zadro, R, Beltrame, L, Nerini, I, Zola, P, Laudani, M, Pagano, E, Giordano, L, Fruscio, R, Landoni, F, Franceschi, S, Dalessandro, M, Canzonieri, V, Bocciolone, L, Lorusso, D, Bosetti, C, Raspagliesi, F, Garassino, I, D'Incalci, M, Marchini, S, Grassi, T, Bianchi, T, Cursano, G, Mangili, G, Scambia, G, Marchetti, C, Boldorini, R, De Rosa, G, Ferrero, A, Feyles, E, Goia, M, Manini, C, Orlassino, R, Surico, D, Volante, M, Greggi, S, Jaconi, M, Bella, C, Vitobello, D, di Loreto, C, Pizzolitto, S, Zanconati, F, Ciccone, G, Armaroli, P, Larato, C, Rizzolo, R, Paracchini L., Mannarino L., Romualdi C., Zadro R., Beltrame L., Nerini I. F., Zola P., Laudani M. E., Pagano E., Giordano L., Fruscio R., Landoni F., Franceschi S., Dalessandro M. L., Canzonieri V., Bocciolone L., Lorusso D., Bosetti C., Raspagliesi F., Garassino I. M. G., D'Incalci M., Marchini S., Grassi T., Bianchi T., Cursano G., Mangili G., Scambia G., Marchetti C., Boldorini R., De Rosa G., Ferrero A., Feyles E., Goia M., Manini C., Orlassino R., Surico D., Volante M., Greggi S., Jaconi M., Bella C. D., Vitobello D., di Loreto C., Pizzolitto S., Zanconati F., Ciccone G., Armaroli P., Larato C., Rizzolo R., Paracchini, L, Mannarino, L, Romualdi, C, Zadro, R, Beltrame, L, Nerini, I, Zola, P, Laudani, M, Pagano, E, Giordano, L, Fruscio, R, Landoni, F, Franceschi, S, Dalessandro, M, Canzonieri, V, Bocciolone, L, Lorusso, D, Bosetti, C, Raspagliesi, F, Garassino, I, D'Incalci, M, Marchini, S, Grassi, T, Bianchi, T, Cursano, G, Mangili, G, Scambia, G, Marchetti, C, Boldorini, R, De Rosa, G, Ferrero, A, Feyles, E, Goia, M, Manini, C, Orlassino, R, Surico, D, Volante, M, Greggi, S, Jaconi, M, Bella, C, Vitobello, D, di Loreto, C, Pizzolitto, S, Zanconati, F, Ciccone, G, Armaroli, P, Larato, C, Rizzolo, R, Paracchini L., Mannarino L., Romualdi C., Zadro R., Beltrame L., Nerini I. F., Zola P., Laudani M. E., Pagano E., Giordano L., Fruscio R., Landoni F., Franceschi S., Dalessandro M. L., Canzonieri V., Bocciolone L., Lorusso D., Bosetti C., Raspagliesi F., Garassino I. M. G., D'Incalci M., Marchini S., Grassi T., Bianchi T., Cursano G., Mangili G., Scambia G., Marchetti C., Boldorini R., De Rosa G., Ferrero A., Feyles E., Goia M., Manini C., Orlassino R., Surico D., Volante M., Greggi S., Jaconi M., Bella C. D., Vitobello D., di Loreto C., Pizzolitto S., Zanconati F., Ciccone G., Armaroli P., Larato C., and Rizzolo R.

Abstract

Late diagnosis and the lack of screening methods for early detection define high-grade serous ovarian cancer (HGSOC) as the gynecological malignancy with the highest mortality rate. In the work presented here, we investigated a retrospective and multicentric cohort of 250 archival Papanicolaou (Pap) test smears collected during routine gynecological screening. Samples were taken at different time points (from 1 month to 13.5 years before diagnosis) from 113 presymptomatic women who were subsequently diagnosed with HGSOC (pre-HGSOC) and from 77 healthy women. Genome instability was detected through low-pass whole-genome sequencing of DNA derived from Pap test samples in terms of copy number profile abnormality (CPA). CPA values of DNA extracted from Pap test samples from pre-HGSOC women were substantially higher than those in samples from healthy women. Consistently with the longitudinal analysis of clonal pathogenic TP53 mutations, this assay could detect HGSOC presence up to 9 years before diagnosis. This finding confirms the continual shedding of tumor cells from fimbriae toward the endocervical canal, suggesting a new path for the early diagnosis of HGSOC. We integrated the CPA score into the EVA (early ovarian cancer) test, the sensitivity of which was 75% (95% CI, 64.97 to 85.79), the specificity 96% (95% CI, 88.35 to 100.00), and the accuracy 81%. This proof-of-principle study indicates that the early diagnosis of HGSOC is feasible through the analysis of genomic alterations in DNA from endocervical smears.

Published
2023

3. Standardization of molecular monitoring of CML : results and recommendations from the European treatment and outcome study

Author

White HE, Salmon M, Albano F, Andersen CSA, Balabanov S, Balatzenko G, Barbany G, Cayuela JM, Cerveira N, Cochaux P, Colomer D, Coriu D, Diamond J, Dietz C, Dulucq S, Engvall M, Franke GN, Gineikiene-Valentine E, Gniot M, Gómez-Casares MT, Gottardi E, Hayden C, Hayette S, Hedblom A, Ilea A, Izzo B, Jiménez-Velasco A, Jurcek T, Kairisto V, Langabeer SE, Lion T, Meggyesi N, Mešanović S, Mihok L, Mitterbauer-Hohendanner G, Moeckel S, Naumann N, Nibourel O, Oppliger Leibundgut E, Panayiotidis P, Podgornik H, Pott C, Rapado I, Rose SJ, Schäfer V, Touloumenidou T, Veigaard C, Venniker-Punt B, Venturi C, Vigneri P, Vorkinn I, Wilkinson E, Zadro R, Zawada M, Zizkova H, Müller MC, Saussele S, Ernst T, Machova Polakova K, Hochhaus A, Cross NCPa 62, Andreas Hochhaus 52, Nicholas C P Cross, White, He, Salmon, M, Albano, F, Andersen, Csa, Balabanov, S, Balatzenko, G, Barbany, G, Cayuela, Jm, Cerveira, N, Cochaux, P, Colomer, D, Coriu, D, Diamond, J, Dietz, C, Dulucq, S, Engvall, M, Franke, Gn, Gineikiene-Valentine, E, Gniot, M, Gómez-Casares, Mt, Gottardi, E, Hayden, C, Hayette, S, Hedblom, A, Ilea, A, Izzo, B, Jiménez-Velasco, A, Jurcek, T, Kairisto, V, Langabeer, Se, Lion, T, Meggyesi, N, Mešanović, S, Mihok, L, Mitterbauer-Hohendanner, G, Moeckel, S, Naumann, N, Nibourel, O, Oppliger Leibundgut, E, Panayiotidis, P, Podgornik, H, Pott, C, Rapado, I, Rose, Sj, Schäfer, V, Touloumenidou, T, Veigaard, C, Venniker-Punt, B, Venturi, C, Vigneri, P, Vorkinn, I, Wilkinson, E, Zadro, R, Zawada, M, Zizkova, H, Müller, Mc, Saussele, S, Ernst, T, Machova Polakova, K, Hochhaus, A, Cross NCPa, 62, Andreas Hochhaus, 52, and Nicholas C, P Cross

Subjects
Cancer Research, Cancer och onkologi, Fatigue Syndrome, Chronic, Fusion Proteins, bcr-abl, 610 Medicine & health, Hematology, Reference Standards, Treatment Outcome, Oncology, hemic and lymphatic diseases, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, Cancer and Oncology, Humans, Hematologi
Abstract

Standardized monitoring of BCR::ABL1 mRNA levels is essential for the management of chronic myeloid leukemia (CML) patients. From 2016 to 2021 the European Treatment and Outcome Study for CML (EUTOS) explored the use of secondary, lyophilized cell-based BCR::ABL1 reference panels traceable to the World Health Organization primary reference material to standardize and validate local laboratory tests. Panels were used to assign and validate conversion factors (CFs) to the International Scale and assess the ability of laboratories to assess deep molecular response (DMR). The study also explored aspects of internal quality control. The percentage of EUTOS reference laboratories (n = 50) with CFs validated as optimal or satisfactory increased from 67.5% to 97.6% and 36.4% to 91.7% for ABL1 and GUSB, respectively, during the study period and 98% of laboratories were able to detect MR4.5 in most samples. Laboratories with unvalidated CFs had a higher coefficient of variation for BCR::ABL1IS and some laboratories had a limit of blank greater than zero which could affect the accurate reporting of DMR. Our study indicates that secondary reference panels can be used effectively to obtain and validate CFs in a manner equivalent to sample exchange and can also be used to monitor additional aspects of quality assurance.

Published
2022
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4. Standardization of molecular monitoring of CML: results and recommendations from the European treatment and outcome study

Author

White, H.E. Salmon, M. Albano, F. Andersen, C.S.A. Balabanov, S. Balatzenko, G. Barbany, G. Cayuela, J.-M. Cerveira, N. Cochaux, P. Colomer, D. Coriu, D. Diamond, J. Dietz, C. Dulucq, S. Engvall, M. Franke, G.N. Gineikiene-Valentine, E. Gniot, M. Gómez-Casares, M.T. Gottardi, E. Hayden, C. Hayette, S. Hedblom, A. Ilea, A. Izzo, B. Jiménez-Velasco, A. Jurcek, T. Kairisto, V. Langabeer, S.E. Lion, T. Meggyesi, N. Mešanović, S. Mihok, L. Mitterbauer-Hohendanner, G. Moeckel, S. Naumann, N. Nibourel, O. Oppliger Leibundgut, E. Panayiotidis, P. Podgornik, H. Pott, C. Rapado, I. Rose, S.J. Schäfer, V. Touloumenidou, T. Veigaard, C. Venniker-Punt, B. Venturi, C. Vigneri, P. Vorkinn, I. Wilkinson, E. Zadro, R. Zawada, M. Zizkova, H. Müller, M.C. Saussele, S. Ernst, T. Machova Polakova, K. Hochhaus, A. Cross, N.C.P. and White, H.E. Salmon, M. Albano, F. Andersen, C.S.A. Balabanov, S. Balatzenko, G. Barbany, G. Cayuela, J.-M. Cerveira, N. Cochaux, P. Colomer, D. Coriu, D. Diamond, J. Dietz, C. Dulucq, S. Engvall, M. Franke, G.N. Gineikiene-Valentine, E. Gniot, M. Gómez-Casares, M.T. Gottardi, E. Hayden, C. Hayette, S. Hedblom, A. Ilea, A. Izzo, B. Jiménez-Velasco, A. Jurcek, T. Kairisto, V. Langabeer, S.E. Lion, T. Meggyesi, N. Mešanović, S. Mihok, L. Mitterbauer-Hohendanner, G. Moeckel, S. Naumann, N. Nibourel, O. Oppliger Leibundgut, E. Panayiotidis, P. Podgornik, H. Pott, C. Rapado, I. Rose, S.J. Schäfer, V. Touloumenidou, T. Veigaard, C. Venniker-Punt, B. Venturi, C. Vigneri, P. Vorkinn, I. Wilkinson, E. Zadro, R. Zawada, M. Zizkova, H. Müller, M.C. Saussele, S. Ernst, T. Machova Polakova, K. Hochhaus, A. Cross, N.C.P.

Abstract

Standardized monitoring of BCR::ABL1 mRNA levels is essential for the management of chronic myeloid leukemia (CML) patients. From 2016 to 2021 the European Treatment and Outcome Study for CML (EUTOS) explored the use of secondary, lyophilized cell-based BCR::ABL1 reference panels traceable to the World Health Organization primary reference material to standardize and validate local laboratory tests. Panels were used to assign and validate conversion factors (CFs) to the International Scale and assess the ability of laboratories to assess deep molecular response (DMR). The study also explored aspects of internal quality control. The percentage of EUTOS reference laboratories (n = 50) with CFs validated as optimal or satisfactory increased from 67.5% to 97.6% and 36.4% to 91.7% for ABL1 and GUSB, respectively, during the study period and 98% of laboratories were able to detect MR4.5 in most samples. Laboratories with unvalidated CFs had a higher coefficient of variation for BCR::ABL1IS and some laboratories had a limit of blank greater than zero which could affect the accurate reporting of DMR. Our study indicates that secondary reference panels can be used effectively to obtain and validate CFs in a manner equivalent to sample exchange and can also be used to monitor additional aspects of quality assurance. © 2022, The Author(s).

Published
2022

6. A certified plasmid reference material for the standardisation of BCR-ABL1 mRNA quantification by real-time quantitative PCR

Author

White, H, Deprez, L, Corbisier, P, Hall, V, Lin, F, Mazoua, S, Trapmann, S, Aggerholm, A, Andrikovics, H, Akiki, S, Barbany, G, Boeckx, N, Bench, A, Catherwood, M, Cayuela, J-M, Chudleigh, S, Clench, T, Colomer, D, Daraio, F, Dulucq, S, Farrugia, J, Fletcher, L, Foroni, L, Ganderton, R, Gerrard, G, Gineikiene, E, Hayette, S, El Housni, H, Izzo, B, Jansson, M, Johnels, P, Jurcek, T, Kairisto, V, Kizilors, A, Kim, D-W, Lange, T, Lion, T, Polakova, K M, Martinelli, G, McCarron, S, Merle, P A, Milner, B, Mitterbauer-Hohendanner, G, Nagar, M, Nickless, G, Nomdedéu, J, Nymoen, D A, Leibundgut, E O, Ozbek, U, Pajic, T, Pfeifer, H, Preudhomme, C, Raudsepp, K, Romeo, G, Sacha, T, Talmaci, R, Touloumenidou, T, Van der Velden, V HJ, Waits, P, Wang, L, Wilkinson, E, Wilson, G, Wren, D, Zadro, R, Ziermann, J, Zoi, K, Müller, M C, Hochhaus, A, Schimmel, H, Cross, N CP, and Emons, H

Published
2015
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7. The proportion of different BCR-ABL1 transcript types in chronic myeloid leukemia. An international overview

Author

Baccarani, M, Castagnetti, F, Gugliotta, G, Rosti, G, Soverini, S, Albeer, A, Pfirrmann, M, Bekadja, Ma, Entasoltan, B, Nachi, M, Elghandour, A, El Sorady, M, Abdelfattah, R, El Nahass, Y, Samra, M, Azzazi, M, Elsobki, E, Moussa, M, Fahmy, O, Mattar, M, Shehata, Azmy, Se, (Azmy, E, 9 ), Emad), Bolarinwa, (Bolarinwa, Ra, ( 10 ), Rahman A., Eid, (Eid, S, Samir)( 11, ), Khelif, (Khelif, A, Abderrhaim)( 11, ), Hached, (Hached, F, Farhat)( 11, ), Menif, (Menif, S, Samia)( 12, ), Rahman, (Rahman, H, Hafizur)( 13, ), Huang, (Huang, Xj, Xiaojun)(, 14, 15, ), Jiang, (Jiang, Q, Qian)(, 14, (Ye, Yx, Yuanxin)( 16, ), Zhu, (Zhu, Hl, Huanling)( 16, ), Chen, (Chen, Sn, Suning)( 17, ), Varma, (Varma, N, Neelam)( 18, ), Ganesan, (Ganesan, P, Prasanth)( 19, ), Gundeti, (Gundeti, S, Sadashivudu)( 20, ), Malhotra, (Malhotra, H, Hemant)( 21, ), Radhakrishnan, (Radhakrishnan, Vs, ( 22 ), Vivek S., Kumar, (Kumar, L, Lalit)( 23, ), Sharawat, (Sharawat, Sk, Surender Kumar)( 23, ), Seth, (Seth, T, Tulika)( 24, ), Ausekar, (Ausekar, Bv, ( 25 ), B. V., Balasubramanian, (Balasubramanian, P, Poonkuzhali)( 26, ), Poopak, (Poopak, B, Behzad)(, 27, 28, ), Inokuchi, (Inokuchi, K, Koiti)( 29, ), Kim, (Kim, Dw, Dong-Wook)( 30, ), Kindi, Al, S (Al Kindi, Salam)( 31, ), Mirasol, (Mirasol, A, Angelina)( 32, ), Qari, (Qari, M, Mohammed)( 33, ), Goh, (Goh, Yt, Yeow Tee)( 34, ), Shih, (Shih, Ly, Lee-Yung)(, 35, 36, ), Branford, (Branford, S, Susan)(, 37, 38, ), Lion, (Lion, T, Thomas)( 39, ), Valent, (Valent, P, Peter)( 40, ), Burgstaller, (Burgstaller, S, Sonja)( 41, ), Thaler, (Thaler, J, Joseph)( 41, ), Labar, (Labar, B, Boris)( 42, ), Zadro, (Zadro, R, Renata)( 42, ), Mayer, (Mayer, J, Jiri)(, 43, 44, ), Zackova, (Zackova, D, Daniela)(, 43, Faber, (Faber, E, Edgar)( 45, ), Pallisgaard, (Pallisgaard, N, Niels)( 46, ), Xavier-Mahon, (Xavier-Mahon, F, Francois)( 47, ), Lippert, (Lippert, E, Eric)( 48, ), Cayuela, (Cayuela, Jm, Jean Michel)( 49, ), Rea, (Rea, D, Delphine)( 49, ), Millot, (Millot, F, Frederic)( 50, ), Suttorp, (Suttorp, M, Meinolf)( 51, ), Hochhaus, (Hochhaus, A, Andreas)( 52, ), Niederwieser, (Niederwieser, D, Dietger)( 53, ), Saussele, (Saussele, S, Susanne)( 54, ), Haferlach, (Haferlach, T, Torsten)( 55, ), Jeromine, (Jeromine, S, Sabine)( 55, ), Panayiotidis, (Panayiotidis, P, Panayiotis)(, 56, 57, ), Conneally, (Conneally, E, Eibhlin)( 58, ), Langabeer, (Langabeer, S, Steve)( 58, ), Nagler, (Nagler, A, Arnon)(, 59, 60, ), Rupoli, (Rupoli, S, Serena)( 61, ), Santoro, (Santoro, N, Nicola)( 62, ), Albano, (Albano, F, Francesco)( 63, ), Castagnetti, (Castagnetti, F, Fausto), Ottaviani, (Ottaviani, E, Emanuela)(, 64, 65, ), Rambaldi, (Rambaldi, A, Alessandro)(, 66, 67, ), Stagno, (Stagno, F, Fabio)( 68, ), Molica, (Molica, S, Stefano)( 69, ), Biagiotti, (Biagiotti, C, Caterina)( 70, ), Scappini, (Scappini, B, Barbara)( 70, ), Lemoli, (Lemoli, R, Roberto)( 71, ), Iurlo, (Iurlo, A, Alessandra)(, 72, 73, ), Pungolino, (Pungolino, E, Ester)( 74, ), Menna, (Menna, G, Giuseppe), Pane, (Pane, F, Fabrizio)( 76, ), Gottardi, (Gottardi, E, Enrico)(, 77, 78, ), Rege-Cambrin, (Rege-Cambrin, G, Giovanna)(, 77, Binotto, (Binotto, G, Gianni)( 79, ), Putti, (Putti, Mc, Maria Caterina)( 80, ), Falzetti, (Falzetti, F, Franca)( 81, ), Visani, (Visani, G, Giuseppe)( 82, ), Galimberti, (Galimberti, S, Sara)( 83, ), Musto, (Musto, P, Pellegrino)( 84, ), Abruzzese, (Abruzzese, E, Elisabetta)( 85, ), Breccia, (Breccia, M, Massimo)( 86, ), Giona, (Giona, F, Fiorina)( 86, ), Chiusolo, (Chiusolo, P, Patrizia)( 87, ), Sica, (Sica, S, Simona)( 87, ), Fava, (Fava, C, Carmen)( 88, ), Ferrero, (Ferrero, D, Dario)( 88, ), Tiribelli, (Tiribelli, M, Mario)( 89, ), Bonifacio, (Bonifacio, M, Massimiliano)( 90, ), Griskevicius, (Griskevicius, L, Laimonas)( 91, ), Musteata, (Musteata, V, Vasile)( 92, ), Janssen, (Janssen, J, Jeroen)( 93, ), Prejzner, (Prejzner, W, Witold)( 94, ), Sacha, (Sacha, T, Tomasz)( 95, ), Waclaw, (Waclaw, J, Joanna)( 95, ), Almeida, (Almeida, Am, Antonio Medina)( 96, ), Kulikov, (Kulikov, S, Sergei)( 97, ), Turkina, (Turkina, A, Anna)( 97, ), Bogdanovic, (Bogdanovic, A, Andrija)( 98, ), Zupan, (Zupan, I, Irena)( 99, ), Marce, (Marce, S, Silvia)( 100, ), Cervantes, (Cervantes, F, Francisco)( 101, ), Steegmann, (Steegmann, Jl, Juan Luis)( 102, ), Kotlyarchuk, (Kotlyarchuk, K, Konstyantyn)( 103, ), Milner, (Milner, Bj, ( 104 ), Benedict J., Rose, (Rose, S, Susan)( 105, ), Clench, (Clench, T, Tim)( 106, ), Waits, (Waits, P, Paula)( 107, ), Austin, (Austin, S, Steve)( 108, ), Wickham, (Wickham, C, Caroline)( 109, ), Clark, (Clark, R, Richard)( 110, ), Apperley, (Apperley, J, Jane), Claudiani, (Claudiani, S, Simone)( 111, ), Foroni, (Foroni, L, Letizia)( 111, ), Szydlo, (Szydlo, R, Richard)( 111, ), Burt, (Burt, E, Emma)( 112, ), Bescoby, (Bescoby, R, Ruth)( 113, ), Cork, (Cork, L, Leanne)( 113, ), O'Brien, (O'Brien, S, Stephen)( 113, ), Green, (Green, B, Bethaney)( 114, ), Hawtree, (Hawtree, S, Sarah)( 114, ), Watson, (Watson, M, Mark)( 114, ), Bengio, (Bengio, Rm, Raquel Maria)( 115, ), Larripa, (Larripa, I, Irene)( 115, ), Pavlovsky, (Pavlovsky, C, Carolina)( 116, ), Moiraghi, (Moiraghi, B, Beatriz)( 117, ), Pinna, De, CAR (Requiao de Pinna, Cristiane Almeida)( 118, ), Magalhaes, GHR (Romani Magalhaes, Gustavo Henrique)( 119, ), Pagnano, (Pagnano, K, Katia)( 120, ), Funke, (Funke, V, Vaneuza)( 121, ), Tavares, (Tavares, Rs, Renato Sampaio)( 122, ), Prado, (Prado, A, Adriana)( 123, ), Azevedo, (Azevedo, Aa, Alita Andrade)( 124, ), Fogliatto, (Fogliatto, L, Laura)( 125, ), Bonecker, (Bonecker, S, Simone)( 126, ), Centrone, (Centrone, R, Renato)( 127, ), Moellman, (Moellman, A, Artur)( 128, ), Conchon, (Conchon, M, Monika)( 130, ), Centurion, (Centurion, Me, Maria Elida)( 131, ), (Prado, Ai, Ana-Ines)( 132, ), Lopez, (Lopez, Jl, ( 133 ), J. L., Petruzziello, (Petruzziello, F, Fara)( 75, ), Bendit, (Bendit, I, Israel), Baccarani M., Castagnetti F., Gugliotta G., Rosti G., Soverini S., Albeer A., and Pfirrmann M.

Subjects
Male, 0301 basic medicine, Cancer Research, bcr-abl, Fusion Proteins, bcr-abl, Global Health, 0302 clinical medicine, hemic and lymphatic diseases, 80 and over, Odds Ratio, Prevalence, Age Factor, Chronic, Young adult, Child, MOLECULAR RESPONSE, Leukemic, Aged, 80 and over, Leukemia, Hematology, Gene Expression Regulation, Leukemic, CHRONIC MYELOGENOUS LEUKEMIA, Age Factors, Myeloid leukemia, Middle Aged, Oncology, Child, Preschool, 030220 oncology & carcinogenesis, Female, Life Sciences & Biomedicine, Human, Adult, Transcriptional Activation, medicine.medical_specialty, Adolescent, Immunology, IMATINIB MESYLATE, DENDRITIC CELLS, CML PATIENTS, Young Adult, 03 medical and health sciences, Myelogenous, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, Internal medicine, medicine, Humans, 1112 Oncology and Carcinogenesis, BCR/ABL TRANSCRIPT, Preschool, CYTOGENETIC RESPONSE, Aged, Science & Technology, CHRONIC-PHASE, business.industry, Infant, Newborn, Fusion Proteins, ABL FUSION PROTEINS, P190 BCR-ABL, Infant, 1103 Clinical Sciences, Odds ratio, Newborn, medicine.disease, International BCR-ABL Study Group, Settore MED/15 - MALATTIE DEL SANGUE, 030104 developmental biology, Imatinib mesylate, Gene Expression Regulation, BCR-ABL Positive, business, Chronic myelogenous leukemia
Abstract

There are different BCR-ABL1 fusion genes that are translated into proteins that are different from each other, yet all leukemogenic, causing chronic myeloid leukemia (CML) or acute lymphoblastic leukemia. Their frequency has never been systematically investigated. In a series of 45503 newly diagnosed CML patients reported from 45 countries, it was found that the proportion of e13a2 (also known as b2a2) and of e14a2 (also known as b3a2), including the cases co-expressing e14a2 and e13a2, was 37.9% and 62.1%, respectively. The proportion of these two transcripts was correlated with gender, e13a2 being more frequent in males (39.2%) than in females (36.2%), was correlated with age, decreasing from 39.6% in children and adolescents down to 31.6% in patients ≥ 80 years old, and was not constant worldwide. Other, rare transcripts were reported in 666/34561 patients (1.93%). The proportion of rare transcripts was associatedwith gender (2.27% in females and 1.69% in males) and with age (from 1.79% in children and adolescents up to 3.84% in patients ≥ 80 years old). These data show that the differences in proportion are not by chance. This is important, as the transcript type is a variable that is suspected to be of prognostic importance for response to treatment, outcome of treatment, and rate of treatment-free remission.

Published
2019
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8. Establishment of the WHO 2nd International Standard Factor V, plasma (16/374): communication from the SSC of the ISTH

Author

Hubbard, Anthony R., Thelwell, Craig, Rigsby, Peter, Baker, P., Beavis, J., Gebauer, R., Riddell, A., Park, S., Jung, K., Kaar, W., Rosen, S., Bryngelhed, P., Mackie, I, Young, B., Stroobants, A., Hunfeld, A., Kusch, M., Praefcke, G., Rosenkranz, S., Schroda, A., Moore, G., Dunsmore, C., Zadro, R., Lawrence, C., Bevan, S., Foulon, D., Teramura, G., Bowyer, A., Kitchen, S., Doyle, M., Binder, N., Ovanesov, M., Liang, Y., Surov, S., Parunov, L., Rigano, J., Gottschalk, N., Demaistre, E., Peyvandi, F., Novembrino, C., Jeanpierre, E., Grenet, J., Aime, C., Maes, Marie-Berthe, Sidelmann, J., Martineau, N., Grimaux, M., Johnson, L., and Subcomm Factor VIII Factor IX Rare

Subjects
medicine.medical_specialty, biology, business.industry, International standard, MEDLINE, Factor V, Reproducibility of Results, Guidelines as Topic, Hematology, Reference Standards, World Health Organization, Predictive Value of Tests, Predictive value of tests, biology.protein, Humans, Medicine, Medical physics, Blood Coagulation Tests, Human medicine, business, Blood Coagulation, Reference standards, Biomarkers
Published
2019
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11. Acute promyelocytic leukemia after whole brain irradiation of primary brain lymphomainan HIV-infected patient

Author

Boban A, Radman I, Zadro R, Dubravcic K, Maretic T, Civljak R, Lisic M, and Begovac J

Subjects
HIV, acute promyelocytic leukemia, primary central nervous system lymphoma, Medicine
Abstract

Abstract The occurrence of acute promyelocytic leukemia (APL) in HIV-infected patients has been reported in only five cases. Due to a very small number of reported HIV/APL patients who have been treated with different therapies with the variable outcome, the prognosis of APL in the setting of the HIV-infection is unclear. Here, we report a case of an HIV-patient who developed APL and upon treatment entered a complete remission. A 25-years old male patient was diagnosed with HIV-infection in 1996, but remained untreated. In 2004, the patient was diagnosed with primary central nervous system lymphoma. We treated the patient with antiretroviral therapy and whole-brain irradiation, resulting in complete remission of the lymphoma. In 2006, prompted by a sudden neutropenia, we carried out a set of diagnostic procedures, revealing APL. Induction therapy consisted of standard treatment with all-trans-retinoic-acid (ATRA) and idarubicin. Subsequent cytological and molecular analysis of bone marrow demonstrated complete hematological and molecular remission. Due to the poor general condition, consolidation treatment with ATRA was given in March and April 2007. The last follow-up 14 months later, showed sustained molecular APL remission. In conclusion, we demonstrated that a complete molecular APL remission in an HIV-patient was achieved by using reduced-intensity treatment.

Published
2009
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13. Development and evaluation of a secondary reference panel for BCR-ABL1 quantification on the International Scale

Author

Cross, N.C.P. White, H.E. Ernst, T. Welden, L. Dietz, C. Saglio, G. Mahon, F.-X. Wong, C.C. Zheng, D. Wong, S. Wang, S.-S. Akiki, S. Albano, F. Andrikovics, H. Anwar, J. Balatzenko, G. Bendit, I. Beveridge, J. Boeckx, N. Cerveira, N. Cheng, S.-M. Colomer, D. Czurda, S. Daraio, F. Dulucq, S. Eggen, L. El Housni, H. Gerrard, G. Gniot, M. Izzo, B. Jacquin, D. Janssen, J.J.W.M. Jeromin, S. Jurcek, T. Kim, D.-W. Machova-Polakova, K. Martinez-Lopez, J. McBean, M. Mesanovic, S. Mitterbauer-Hohendanner, G. Mobtaker, H. Mozziconacci, M.-J. Pajič, T. Pallisgaard, N. Panagiotidis, P. Press, R.D. Qin, Y.-Z. Radich, J. Sacha, T. Touloumenidou, T. Waits, P. Wilkinson, E. Zadro, R. Müller, M.C. Hochhaus, A. Branford, S.

Subjects
hemic and lymphatic diseases
Abstract

Molecular monitoring of chronic myeloid leukemia patients using robust BCR-ABL1 tests standardized to the International Scale (IS) is key to proper disease management, especially when treatment cessation is considered. Most laboratories currently use a time-consuming sample exchange process with reference laboratories for IS calibration. A World Health Organization (WHO) BCR-ABL1 reference panel was developed (MR 1 -MR 4), but access to the material is limited. In this study, we describe the development of the first cell-based secondary reference panel that is traceable to and faithfully replicates the WHO panel, with an additional MR 4.5 level. The secondary panel was calibrated to IS using digital PCR with ABL1, BCR and GUSB as reference genes and evaluated by 44 laboratories worldwide. Interestingly, we found that >40% of BCR-ABL1 assays showed signs of inadequate optimization such as poor linearity and suboptimal PCR efficiency. Nonetheless, when optimized sample inputs were used, >60% demonstrated satisfactory IS accuracy, precision and/or MR 4.5 sensitivity, and 58% obtained IS conversion factors from the secondary reference concordant with their current values. Correlation analysis indicated no significant alterations in %BCR-ABL1 results caused by different assay configurations. More assays achieved good precision and/or sensitivity than IS accuracy, indicating the need for better IS calibration mechanisms. © 2016 Macmillan Publishers Limited, part of Springer Nature.

Published
2016

14. Kronična bolest presatka protiv primatelja u KBC Zagreb – stručni i znanstveno-istraživački izazovi

Author

Pulanić, D., Desnica, L., Serventi-Seiwerth, R., Mravak-Stipetić, M., Bilić, E., Čeović, R., Matić, N., Duraković, N., Perić, Z., Rajić, Lj., Klepac Pulanić, T., Petriček, I., Ljubas Kelečić, D., Vukić, T., Alerić, I., Dušek D., Matić, T., Bojanić, I., Mazić, S., Prenc, E., Prah, I., Grce, M., Batinić, D., Zadro, R., Vrhovac, R., Pavletić, S. Ž., and Nemet D.

Subjects
kronična bolest presatka protiv primatelja
Abstract

Kronična bolest presatka protiv primatelja (eng.Chronic Graft versus Host Disease - cGVHD) najvažnija je kasna komplikacija nakon transplantacije alogeničnih krvotvornih matičnih stanica (aloTKMS) i vodeći uzrok morbiditeta i mortaliteta koji nije povezan s relapsom osnovne bolesti u osoba nakon aloTKMS- a. U ovom izdanju opisuju se rezultati i aktivnosti multidisciplinarnog tima za cGVHD osnovanog 2013. godine na KBC Zagreb.

Published
2016

15. Daljnji napredak multidisciplinarnog tima za liječenje kronične bolesti presatka protiv primatelja i kasnih komplikacija nakon transplantacije krvotvornih matičnih stanica u KBC Zagreb

Author

Desnica, L., Pulanić, D., Serventi-Seiwerth, R., Mravak-Stipetić, M., Bilić, E., Čeović, R., Matić, N., Rajić, Lj., Duraković, N., Perić, Z., Klepac Pulanić, T., Petriček, I., Ljubas Kelečić, D., Vukić, T., Dušek, D., Bojanić, I., Mazić, S., Prenc, Ema, Prah, I.O., Grce, M., Batinić, D., Zadro, R., Vrhovac, R., Pavletić, S.Ž., and Nemet, D.

Subjects
multidisciplinarnog tim, kasne komplikacije, kronična bolest presatka protiv primatelja
Abstract

Danas se u svijetu sve veći broj bolesnika s malignim i nemalignim bolestima liječi transplantacijom alogeničnih krvotvornih matičnih stanica (aloTKMS). Kronična bolest presatka protiv primatelja (eng. Chronic graft versus host disease - cGVHD) vodeći je uzrok morbiditeta i mortaliteta koji nije povezan s relapsom osnovne bolesti u osoba nakon aloTKMS‑a. Na KBC Zagreb u 2013. godini formiran je multidisciplinarni tim za liječenje cGVHD-a i dugotrajnih komplikacija nakon aloTKMS-a u suradnji s National Cancer Institute (NCI), NIH, SAD.

Published
2015

16. Development and evaluation of a secondary reference panel for BCR-ABL1 quantification on the International Scale

Author

Cross, N C P, primary, White, H E, additional, Ernst, T, additional, Welden, L, additional, Dietz, C, additional, Saglio, G, additional, Mahon, F-X, additional, Wong, C C, additional, Zheng, D, additional, Wong, S, additional, Wang, S-S, additional, Akiki, S, additional, Albano, F, additional, Andrikovics, H, additional, Anwar, J, additional, Balatzenko, G, additional, Bendit, I, additional, Beveridge, J, additional, Boeckx, N, additional, Cerveira, N, additional, Cheng, S-M, additional, Colomer, D, additional, Czurda, S, additional, Daraio, F, additional, Dulucq, S, additional, Eggen, L, additional, El Housni, H, additional, Gerrard, G, additional, Gniot, M, additional, Izzo, B, additional, Jacquin, D, additional, Janssen, J J W M, additional, Jeromin, S, additional, Jurcek, T, additional, Kim, D-W, additional, Machova-Polakova, K, additional, Martinez-Lopez, J, additional, McBean, M, additional, Mesanovic, S, additional, Mitterbauer-Hohendanner, G, additional, Mobtaker, H, additional, Mozziconacci, M-J, additional, Pajič, T, additional, Pallisgaard, N, additional, Panagiotidis, P, additional, Press, R D, additional, Qin, Y-Z, additional, Radich, J, additional, Sacha, T, additional, Touloumenidou, T, additional, Waits, P, additional, Wilkinson, E, additional, Zadro, R, additional, Müller, M C, additional, Hochhaus, A, additional, and Branford, S, additional

Published
2016
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17. A certified plasmid reference material for the standardisation of BCR-ABL1 mRNA quantification by real-time quantitative PCR

Author

White, H., Deprez, L., Corbisier, P., Hall, V., Lin, F., Mazoua, S., Trapmann, S., Aggerholm, A., Andrikovics, H., Akiki, S., Barbany, G., Boeckx, N., Bench, A., Catherwood, M., Cayuela, J-M, Chudleigh, S., Clench, T., Colomer, D., Daraio, F., Dulucq, S., Farrugia, J., Fletcher, L., Foroni, L., Ganderton, R., Gerrard, G., Gineikiene, E., Hayette, S., El Housni, H., Izzo, B., Jansson, Mattias, Johnels, P., Jurcek, T., Kairisto, V., Kizilors, A., Kim, D-W, Lange, T., Lion, T., Polakova, K. M., Martinelli, G., McCarron, S., Merle, P. A., Milner, B., Mitterbauer-Hohendanner, G., Nagar, M., Nickless, G., Nomdedeu, J., Nymoen, D. A., Leibundgut, E. O., Ozbek, U., Pajic, T., Pfeifer, H., Preudhomme, C., Raudsepp, K., Romeo, G., Sacha, T., Talmaci, R., Touloumenidou, T., Van der Velden, V. H. J., Waits, P., Wang, L., Wilkinson, E., Wilson, G., Wren, D., Zadro, R., Ziermann, J., Zoi, K., Mueller, M. C., Hochhaus, A., Schimmel, H., Cross, N. C. P., Emons, H., White, H., Deprez, L., Corbisier, P., Hall, V., Lin, F., Mazoua, S., Trapmann, S., Aggerholm, A., Andrikovics, H., Akiki, S., Barbany, G., Boeckx, N., Bench, A., Catherwood, M., Cayuela, J-M, Chudleigh, S., Clench, T., Colomer, D., Daraio, F., Dulucq, S., Farrugia, J., Fletcher, L., Foroni, L., Ganderton, R., Gerrard, G., Gineikiene, E., Hayette, S., El Housni, H., Izzo, B., Jansson, Mattias, Johnels, P., Jurcek, T., Kairisto, V., Kizilors, A., Kim, D-W, Lange, T., Lion, T., Polakova, K. M., Martinelli, G., McCarron, S., Merle, P. A., Milner, B., Mitterbauer-Hohendanner, G., Nagar, M., Nickless, G., Nomdedeu, J., Nymoen, D. A., Leibundgut, E. O., Ozbek, U., Pajic, T., Pfeifer, H., Preudhomme, C., Raudsepp, K., Romeo, G., Sacha, T., Talmaci, R., Touloumenidou, T., Van der Velden, V. H. J., Waits, P., Wang, L., Wilkinson, E., Wilson, G., Wren, D., Zadro, R., Ziermann, J., Zoi, K., Mueller, M. C., Hochhaus, A., Schimmel, H., Cross, N. C. P., and Emons, H.

Abstract

Serial quantification of BCR-ABL1 mRNA is an important therapeutic indicator in chronic myeloid leukaemia, but there is a substantial variation in results reported by different laboratories. To improve comparability, an internationally accepted plasmid certified reference material (CRM) was developed according to ISO Guide 34:2009. Fragments of BCR-ABL1 (e14a2 mRNA fusion), BCR and GUSB transcripts were amplified and cloned into pUC18 to yield plasmid pIRMM0099. Six different linearised plasmid solutions were produced with the following copy number concentrations, assigned by digital PCR, and expanded uncertainties: 1.08 +/- 0.13 x 10(6), 1.08 +/- 0.11 x 10(5), 1.03 +/- 0.10 x 10(4), 1.02 +/- 0.09 x 10(3), 1.04 +/- 0.10 x 10(2) and 10.0 +/- 1.5 copies/mu l. The certification of the material for the number of specific DNA fragments per plasmid, copy number concentration of the plasmid solutions and the assessment of inter-unit heterogeneity and stability were performed according to ISO Guide 35:2006. Two suitability studies performed by 63 BCR-ABL1 testing laboratories demonstrated that this set of 6 plasmid CRMs can help to standardise a number of measured transcripts of e14a2 BCR-ABL1 and three control genes (ABL1, BCR and GUSB). The set of six plasmid CRMs is distributed worldwide by the Institute for Reference Materials and Measurements (Belgium) and its authorised distributors (https://ec.europa.eu/jrc/en/reference-materials/catalogue/;CRM code ERM-AD623a-f).

Published
2015
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18. A certified plasmid reference material for the standardisation of BCR–ABL1 mRNA quantification by real-time quantitative PCR

Author

White, H, primary, Deprez, L, additional, Corbisier, P, additional, Hall, V, additional, Lin, F, additional, Mazoua, S, additional, Trapmann, S, additional, Aggerholm, A, additional, Andrikovics, H, additional, Akiki, S, additional, Barbany, G, additional, Boeckx, N, additional, Bench, A, additional, Catherwood, M, additional, Cayuela, J-M, additional, Chudleigh, S, additional, Clench, T, additional, Colomer, D, additional, Daraio, F, additional, Dulucq, S, additional, Farrugia, J, additional, Fletcher, L, additional, Foroni, L, additional, Ganderton, R, additional, Gerrard, G, additional, Gineikienė, E, additional, Hayette, S, additional, El Housni, H, additional, Izzo, B, additional, Jansson, M, additional, Johnels, P, additional, Jurcek, T, additional, Kairisto, V, additional, Kizilors, A, additional, Kim, D-W, additional, Lange, T, additional, Lion, T, additional, Polakova, K M, additional, Martinelli, G, additional, McCarron, S, additional, Merle, P A, additional, Milner, B, additional, Mitterbauer-Hohendanner, G, additional, Nagar, M, additional, Nickless, G, additional, Nomdedéu, J, additional, Nymoen, D A, additional, Leibundgut, E O, additional, Ozbek, U, additional, Pajič, T, additional, Pfeifer, H, additional, Preudhomme, C, additional, Raudsepp, K, additional, Romeo, G, additional, Sacha, T, additional, Talmaci, R, additional, Touloumenidou, T, additional, Van der Velden, V H J, additional, Waits, P, additional, Wang, L, additional, Wilkinson, E, additional, Wilson, G, additional, Wren, D, additional, Zadro, R, additional, Ziermann, J, additional, Zoi, K, additional, Müller, M C, additional, Hochhaus, A, additional, Schimmel, H, additional, Cross, N C P, additional, and Emons, H, additional

Published
2014
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19. Incidence and Clinical Impact of TET2 Mutations in Acute Myeloid Leukemia Patients Treated within the EORTC/GIMEMA AML-12/06991 AML Trial.

Author

Aslanyan, M. G, primary, Langemeijer, S. M.C., additional, Cilloni, D., additional, Saglio, G., additional, Marie, JP, additional, Tang, R., additional, Labar, B., additional, Zadro, R., additional, Batinic, D., additional, Amadori, S., additional, Lo Coco, F., additional, Scheele, T., additional, Kroeze, L., additional, Massop, M., additional, van Hoogen, P., additional, Stevens, E., additional, Muus, P., additional, Suciu, S., additional, Baila, L., additional, Marijt, E. W.A., additional, Willemze, R., additional, de Witte, T., additional, van der Reijden, B., additional, and Jansen, J. H., additional

Published
2009
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23. Incidence and Clinical Impact of TET2Mutations in Acute Myeloid Leukemia Patients Treated within the EORTC/GIMEMA AML-12/06991 AML Trial.

Author

Aslanyan, M. G, Langemeijer, S. M.C., Cilloni, D., Saglio, G., Marie, JP, Tang, R., Labar, B., Zadro, R., Batinic, D., Amadori, S., Lo Coco, F., Scheele, T., Kroeze, L., Massop, M., van Hoogen, P., Stevens, E., Muus, P., Suciu, S., Baila, L., Marijt, E. W.A., Willemze, R., de Witte, T., van der Reijden, B., and Jansen, J.H.

Abstract

Abstract 2609

Published
2009
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24. In Ph+BCR-ABL1P210+ acute lymphoblastic leukemia the e13a2 (B2A2) transcript is prevalent

Author

Daniel Coriu, Audrey Bidet, BJ Milner, Michele Baccarani, Ilaria Iacobucci, Sabina Chiaretti, Samia Menif, A Ayala, Stephen E. Langabeer, Beatrice Borsellino, Elisabeth Paietta, Emma Burt, Ana Ines Prado, Lorenzo Comba, Sabine Jeromin, Orietta Spinelli, Mario Luppi, Barbara Scappini, Monica Crugnola, Jiri Mayer, Letizia Foroni, Jacqueline Maier, Sara Galimberti, Irena Preložnik Zupan, Francesco Passamonti, Francesca Lunghi, Neelam Varma, Anna Candoni, Jeroen Janssen, Mario Annunziata, Francesco Albano, Poonkuzhali Balasubramanian, Thomas Lion, Giovanna Rege-Cambrin, Valentina Polli, Carolina Terragna, Behzad Poopak, Ombretta Annibali, Barbara Izzo, Renata Zadro, Victor Salinas-Viedma, Francesco Di Raimondo, Tulika Seth, Robin Foà, Baccarani, M., Iacobucci, I., Chiaretti, S., Foa', R., Balasubramanian, P., Paietta, E., Foroni, L., Jeromin, S., Izzo, B., Spinelli, O., Varma, N., Menif, S., Terragna, C., Seth, T., Bidet, A., Coriu, D., Lunghi, F., Mayer, J., Scappini, B., Langabeer, S., Maier, J., Burt, E., Candoni, A., Albano, F., Luppi, M., Zupan, I., Lion, T., Zadro, R., di Raimondo, F., Poopak, B., Rege-Cambrin, G., Annunziata, M., Ayala, A., Salinas-Viedma, V., Ines Prado, A., Milner, B., Galimberti, S., Janssen, J., Polli, V., Comba, L., Borsellino, B., Annibali, O., Crugnola, M., Passamonti, F., Hematology, and CCA - Cancer biology and immunology

Subjects
Adult, Male, Cancer Research, Adolescent, Lymphoblastic Leukemia, bcr-abl, Fusion Proteins, bcr-abl, Young Adult, Myelogenous, Text mining, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, medicine, Humans, Age Factor, Chronic, Young adult, Child, Proto-Oncogene Proteins c-abl, Aged, B-Lymphocytes, Leukemia, business.industry, B-Lymphocyte, Age Factors, breakpoint cluster region, Fusion Proteins, Hematology, Middle Aged, Precursor Cell Lymphoblastic Leukemia-Lymphoma, medicine.disease, Fusion protein, Oncology, Multicenter study, Cancer research, Female, BCR-ABL Positive, business, Human
Published
2019
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25. Development and evaluation of a secondary reference panel for BCR-ABL1 quantification on the International Scale

Author

T. Pajič, J. Anwar, J. Beveridge, T Touloumenidou, Dolors Colomer, P. Waits, Tomáš Jurček, S. Czurda, Andreas Hochhaus, L. Welden, Israel Bendit, M J Mozziconacci, Jeroen Janssen, Tomasz Sacha, Francesco Albano, Dong-Kee Kim, M. Gniot, Jerry Radich, D. Zheng, E. Wilkinson, L. Eggen, Christian Dietz, S. M. Cheng, K. Machova-Polakova, S. Wong, Martin C. Müller, Gareth Gerrard, Stéphanie Dulucq, Nuno Cerveira, H El Housni, Barbara Izzo, Francois-Xavier Mahon, Filomena Daraio, Helen E. White, G. Mitterbauer-Hohendanner, D. Jacquin, Susanna Akiki, G. Balatzenko, Renata Zadro, Susan Branford, Niels Pallisgaard, Nicholas C.P. Cross, Ya-Zhen Qin, S. Jeromin, H. Mobtaker, M. McBean, S. S. Wang, S. Mesanovic, Panagiotis Panagiotidis, Wong Connie C, Nancy Boeckx, Richard D. Press, Thomas Ernst, Hajnalka Andrikovics, Joaquin Martinez-Lopez, Giuseppe Saglio, Cross, NCP, White, HE, Ernst, T, Welden, L, Branford, Susan, Cancer Center Amsterdam, Hematology, CCA - Biomarkers, Cross, N. C. P, White, H. E, Dietz, C, Saglio, G, Mahon, F. X, Wong, C. C, Zheng, D, Wong, S, Wang, S. S, Akiki, S, Albano, F, Andrikovics, H, Anwar, J, Balatzenko, G, Bendit, I, Beveridge, J, Boeckx, N, Cerveira, N, Cheng, S. M, Colomer, D, Czurda, S, Daraio, F, Dulucq, S, Eggen, L, El Housni, H, Gerrard, G, Gniot, M, Izzo, Barbara, Jacquin, D, Janssen, J. J. W. M, Jeromin, S, Jurcek, T, Kim, D. W, Machova Polakova, K, Martinez Lopez, J, Mcbean, M, Mesanovic, S, Mitterbauer Hohendanner, G, Mobtaker, H, Mozziconacci, M. J, Pajič, T, Pallisgaard, N, Panagiotidis, P, Press, R. D, Qin, Y. Z, Radich, J, Sacha, T, Touloumenidou, T, Waits, P, Wilkinson, E, Zadro, R, Müller, M. C, Hochhaus, A, and Branford, S.

Subjects
0301 basic medicine, Cancer Research, International scale, bcr-abl, Fusion Proteins, bcr-abl, Genes, abl, Bioinformatics, World Health Organization, Polymerase Chain Reaction, World health, Anesthésiologie, 03 medical and health sciences, Bcr abl1, 0302 clinical medicine, Reference genes, hemic and lymphatic diseases, Statistics, Calibration, Secondary reference, Medicine, Humans, Digital polymerase chain reaction, business.industry, Proto-Oncogene Proteins c-bcr, Reference Standards, Hematology, Oncology, abl, leukemia, Fusion Proteins, BCR-ABL1 tests, Cancérologie, 030104 developmental biology, Genes, molecular monitoring, 030220 oncology & carcinogenesis, Correlation analysis, Original Article, business, Hématologie
Abstract

Molecular monitoring of chronic myeloid leukemia patients using robust BCR-ABL1 tests standardized to the International Scale (IS) is key to proper disease management, especially when treatment cessation is considered. Most laboratories currently use a time-consuming sample exchange process with reference laboratories for IS calibration. A World Health Organization (WHO) BCR-ABL1 reference panel was developed (MR 1 -MR 4), but access to the material is limited. In this study, we describe the development of the first cell-based secondary reference panel that is traceable to and faithfully replicates the WHO panel, with an additional MR 4.5 level. The secondary panel was calibrated to IS using digital PCR with ABL1, BCR and GUSB as reference genes and evaluated by 44 laboratories worldwide. Interestingly, we found that >40% of BCR-ABL1 assays showed signs of inadequate optimization such as poor linearity and suboptimal PCR efficiency. Nonetheless, when optimized sample inputs were used, >60% demonstrated satisfactory IS accuracy, precision and/or MR 4.5 sensitivity, and 58% obtained IS conversion factors from the secondary reference concordant with their current values. Correlation analysis indicated no significant alterations in %BCR-ABL1 results caused by different assay configurations. More assays achieved good precision and/or sensitivity than IS accuracy, indicating the need for better IS calibration mechanisms., 0, SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2016
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26. A certified plasmid reference material for the standardisation of BCR-ABL1 mRNA quantification by real-time quantitative PCR

Author

J M Cayuela, BJ Milner, Stéphane Mazoua, Elisabeth Oppliger Leibundgut, Linda Fletcher, Heike Pfeifer, Tomáš Jurček, E Gineikienė, P. Waits, Susanna Akiki, G Wilson, J Farrugia, H El Housni, Ugur Ozbek, D Wren, F. Lin, Tomasz Sacha, Hajnalka Andrikovics, S Chudleigh, Letizia Foroni, Stefanie Trapmann, Petra Johnels, Gareth Gerrard, Thomas Lion, M. Jansson, Katerina Zoi, Hendrik Emons, K. Raudsepp, Gisela Barbany, D A Nymoen, H Schimmel, J Ziermann, Nancy Boeckx, Mark Catherwood, Sandrine Hayette, G Romeo, Helen E. White, R Ganderton, Filomena Daraio, G. Mitterbauer-Hohendanner, Philippe Corbisier, Claude Preudhomme, Andreas Hochhaus, Martin C. Müller, P A Merle, V H J van der Velden, M Nagar, Victoria J. Hall, Lihui Wang, Theis Lange, Tim Clench, T Pajič, Stéphanie Dulucq, D-W Kim, Nicholas C.P. Cross, Josep F. Nomdedeu, Rodica Talmaci, Kateřina Machová Poláková, A Bench, Liesbet Deprez, T Touloumenidou, G Nickless, Veli Kairisto, Barbara Izzo, Dolors Colomer, Aytug Kizilors, Giovanni Martinelli, Renata Zadro, Anni Aggerholm, S McCarron, E Wilkinson, Hematology, CCA - Disease profiling, White, H, Deprez, L, Corbisier, P, Hall, V, Lin, F, Mazoua, S, Trapmann, S, Aggerholm, A, Andrikovics, H, Akiki, S, Barbany, G, Boeckx, N, Bench, A, Catherwood, M, Cayuela, Jm, Chudleigh, S, Clench, T, Colomer, D, Daraio, F, Dulucq, S, Farrugia, J, Fletcher, L, Foroni, L, Ganderton, R, Gerrard, G, Gineikienė, E, Hayette, S, El Housni, H, Izzo, Barbara, Jansson, M, Johnels, P, Jurcek, T, Kairisto, V, Kizilors, A, Kim, Dw, Lange, T, Lion, T, Polakova, Km, Martinelli, G, Mccarron, S, Merle, Pa, Milner, B, Mitterbauer Hohendanner, G, Nagar, M, Nickless, G, Nomdedéu, J, Nymoen, Da, Leibundgut, Eo, Ozbek, U, Pajič, T, Pfeifer, H, Preudhomme, C, Raudsepp, K, Romeo, G, Sacha, T, Talmaci, R, Touloumenidou, T, Van der Velden, Vh, Waits, P, Wang, L, Wilkinson, E, Wilson, G, Wren, D, Zadro, R, Ziermann, J, Zoi, K, Müller, Mc, Hochhaus, A, Schimmel, H, Cross, Nc, Emons, H., Immunology, Radiology & Nuclear Medicine, Izzo, B, and Mitterbauer-Hohendanner, G

Subjects
EMTREE drug terms: plasmid DNA EMTREE medical terms: Article, Cancer Research, Fusion Proteins, bcr-abl, Gene Dosage, Membrane Transport Protein, Plasmid, RECOMMENDATIONS, real time quantitative polymerase chain reaction, K562 cell line, law.invention, law, hemic and lymphatic diseases, Escherichia coli Protein, CANCER PROGRAM, Digital polymerase chain reaction, Cloning, Molecular, Polymerase chain reaction, MOLECULAR RESPONSE, Medicine (all), Escherichia coli Proteins, copy number variation, breakpoint cluster region, gene control, Hematology, Reference Standards, gusb gene, 3. Good health, Real-time polymerase chain reaction, Certified reference materials, priority journal, Oncology, real time polymerase chain reaction, Calibration, Proto-Oncogene Proteins c-bcr, Original Article, Life Sciences & Biomedicine, Medical Genetics, Plasmids, EUROPE, POLYMERASE-CHAIN-REACTION, 610 Medicine & health, Biology, Real-Time Polymerase Chain Reaction, IMATINIB, Gene dosage, Anesthésiologie, chronic myeloid leukemia, TRANSCRIPTS, TYROSINE KINASE INHIBITORS, bcr abl gene, Humans, controlled study, human, ddc:610, RNA, Messenger, CHRONIC MYELOID-LEUKEMIA, gene, certified plasmid reference material, bcr-abl1, Medicinsk genetik, freeze thawing, Messenger RNA, Science & Technology, human cell, reference value, Membrane Transport Proteins, HL 60 cell line, DNA, ta3122, Molecular biology, Cancérologie, Anesthesiology and Pain Medicine, certified reference material, minimal residual disease, Reference Standard, Hématologie
Abstract

Serial quantification of BCR-ABL1 mRNA is an important therapeutic indicator in chronic myeloid leukaemia, but there is a substantial variation in results reported by different laboratories. To improve comparability, an internationally accepted plasmid certified reference material (CRM) was developed according to ISO Guide 34:2009. Fragments of BCR-ABL1 (e14a2 mRNA fusion), BCR and GUSB transcripts were amplified and cloned into pUC18 to yield plasmid pIRMM0099. Six different linearised plasmid solutions were produced with the following copy number concentrations, assigned by digital PCR, and expanded uncertainties: 1.08±0.13 × 10 6, 1.08±0.11 × 10 5, 1.03±0.10 × 10 4, 1.02±0.09 × 10 3, 1.04±0.10 × 10 2 and 10.0±1.5 copies/μl. The certification of the material for the number of specific DNA fragments per plasmid, copy number concentration of the plasmid solutions and the assessment of inter-unit heterogeneity and stability were performed according to ISO Guide 35:2006. Two suitability studies performed by 63 BCR-ABL1 testing laboratories demonstrated that this set of 6 plasmid CRMs can help to standardise a number of measured transcripts of e14a2 BCR-ABL1 and three control genes (ABL1, BCR and GUSB). The set of six plasmid CRMs is distributed worldwide by the Institute for Reference Materials and Measurements (Belgium) and its authorised distributors (https://ec.europa.eu/jrc/en/reference-materials/catalogue/; CRM code ERM-AD623a-f)., 0, SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2015
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27. Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross-sectional study in Croatian adult patients diagnosed with von Willebrand disease.

Author

Lapić I, Radić Antolic M, Boban A, Coen Herak D, Rogić D, and Zadro R

Subjects
Adolescent, Adult, Aged, Croatia, Cross-Sectional Studies, Factor VIII genetics, Factor VIII metabolism, Female, High-Throughput Nucleotide Sequencing, Humans, Male, Middle Aged, Young Adult, von Willebrand Factor analysis, von Willebrand Factor genetics, von Willebrand Factor metabolism, von Willebrand Diseases diagnosis, von Willebrand Diseases genetics
Abstract

Aim: To identify the von Willebrand factor (VWF) gene variant status in Croatian adult patients diagnosed with von Willebrand disease (VWD), provide differential diagnosis of VWD subtypes, and identify patients with mild hemophilia A (HA) who were earlier misdiagnosed as VWD., Methods: Coagulation testing included determination of VWF gain-of-function mutant glycoprotein Ib binding activity (VWF:GPIbM), VWF antigen, VWF collagen-binding activity, and multimeric analysis. Genetic analysis of VWF and FVIII genes was performed with next-generation sequencing (NGS)., Results: The study enrolled 50 patients (72% women; median age 37 years, range 18-75) from 44 unrelated families. Fourteen patients were heterozygous for VWF gene variants compatible with type-1 VWD. Twelve had variants associated with type 2, of whom seven were classified as type 2A, four as type 2B, and one as type 2N. Six type-3 VWD patients were either homozygotes for null variants or combined heterozygotes. Eleven variants within the VWF gene were novel. Three female patients had variants within the FVIII gene, and were re-classified as mild-HA carriers, of whom one had causative novel variants both within VWF and FVIII genes. Fifteen patients remained without a defined genetic cause of their disorder, of whom five had VWF:GPIbM levels below 50%., Conclusion: Croatian adult patients with VWD have considerable genetic heterogeneity. NGS of both VWF and FVIII genes provided accurate differential diagnosis of VWD subtypes and distinction of VWD from mild HA.

Published
2022

28. B regulatory cells and monocyte subpopulations in patients with chronic graft-vs-host disease.

Author

Babić A, Kurić L, Zelić Kerep A, Desnica L, Lelas A, Milošević M, Serventi-Seiwerth R, Duraković N, Peric Z, Mravak Stipetić M, Bilic E, Čeović R, Barešić M, Vukić T, Ljubas Kelečić D, Mazić S, Bojanić I, Hećimović A, Bilic E, Zadro R, Vrhovac R, Pavletic SZ, Batinić D, and Pulanić D

Subjects
Adult, Aged, Chronic Disease, Female, Humans, Male, Middle Aged, Monocytes, Prospective Studies, United States, Young Adult, Graft vs Host Disease, Hematopoietic Stem Cell Transplantation
Abstract

Aim: To assess the correlations of B regulatory cells (Bregs) and monocyte subsets in peripheral blood with the National Institutes of Health (NIH)-consensus-defined clinical manifestations of chronic graft-vs-host disease (cGvHD), in an attempt to establish their role as cellular biomarkers., Methods: This multidisciplinary prospective study enrolled adult cGVHD patients treated in the University Hospital Center Zagreb and University of Zagreb School of Medicine. Immunophenotypic subpopulations of CD24highCD38high Bregs (CD27-, CD27+, and total) and monocyte (classical, intermediate, and non-classical) counts were correlated with demographic, transplant, and cGVHD-related data. Bivariate correlation analysis was performed to evaluate the correlations between Bregs and monocytes subsets and cGVHD organ involvement, as well as cGVHD severity and immunosuppression intensity., Results: Twenty-two adult patients (54.5% female) with cGVHD were enrolled. The median (range) age was 44.5 years (24-65). All patients were transplanted for hematologic malignancies and 40.9% had severe NIH cGVHD global score. The median time from cGVHD diagnosis to the analysis was 16.6 months (0-176). The organ most frequently affected with cGVHD were the eyes (68.2%), skin (45.5%), lungs (45.5%), and liver (40.9%). Lower total and CD27-Bregs counts were correlated with worse cGVHD severity, higher immunosuppression intensity, and lung cGVHD, in terms of cell count, but also with skin cGVHD, in terms of percentages. Patients with liver and joint/fascia cGVHD had a lower percentage of non-classical monocytes and patients with more severe global NIH score had a higher classical monocytes count., Conclusion: Different organs affected by cGVHD are differently associated with different subpopulations of Bregs and monocytes.

Published
2021

29. Role of platelet gene polymorphisms in ischemic pediatric stroke subtypes: a case-control study.

Author

Čeri A, Leniček Krleža J, Coen Herak D, Miloš M, Pavić M, Barišić N, Đuranović V, and Zadro R

Subjects
Adolescent, Alleles, Brain Ischemia diagnosis, Case-Control Studies, Child, Child, Preschool, Factor V genetics, Female, Genotype, Haplotypes, Heterozygote, Humans, Infant, Infant, Newborn, Male, Odds Ratio, P-Selectin genetics, Real-Time Polymerase Chain Reaction, Stroke diagnosis, Antigens, Human Platelet genetics, Brain Ischemia genetics, Polymorphism, Single Nucleotide, Stroke genetics
Abstract

Aim: To assess the role of human platelet antigens (HPA), P-selectin gene (SELP) polymorphisms, and HPA and SELP haplotypes with factor V (FV) R506Q in ischemic pediatric stroke (IPS) subtypes: cerebral sinovenous thrombosis (CSVT), perinatal (PAIS), and childhood (CAIS) arterial ischemic stroke., Methods: This case-control study enrolled 150 children with confirmed IPS and 150 age- and sex-matched controls. FV R506Q and HPA-1 were genotyped with CVD StripAssay®, HPA-2 and HPA-3 with real-time polymerase chain reaction, SELP S290N, V599L, and T715P with high resolution melting analysis, and SELP N562D with sequence-specific polymerase chain reaction., Results: HPA-1b allele (odds ratio [OR] 2.75, 95% confidence interval [CI] 1.02-7.42, P=0.048) and HPA-1a2a3b (OR 5.46, 95% CI 1.51-19.76, P=0.011), HPA-1b2a3a (OR 7.00, 95% CI 1.25-39.13, P=0.028), and HPA-1b2b3a (OR 11.39, 95% CI 1.39-92.95, P=0.024) haplotypes increased the risk for CSVT. HPA-3b allele was significantly associated with 2-fold lower risk for PAIS (OR 0.49, 95% CI 0.26-0.89, P=0.020) and CAIS (OR 0.47, 95% CI 0.26-0.86, P=0.014) and non-significantly associated with increased risk for CSVT (OR 6.43, 95% CI 0.83-50.00, P=0.022). HPA-1a2b3a haplotype was significantly associated with CAIS (OR 6.76, 95% CI 2.13-21.44, P=0.001). The inclusion of FV R506Q in SELP haplotype analysis increased the risk for PAIS 4-fold in QNDVT carriers (OR 8.14, 95% CI 0.93-71.33, P=0.060) compared with NDVT haplotype (OR 2.45, 95% CI 0.98-6.18, P=0.058), but the result was not significant., Conclusion: Individual HPAs, and particularly HPA haplotypes, are involved in IPS subtypes pathogenesis. A possible risk-inducing synergistic effect of SELP haplotypes with FV R506Q is restricted to PAIS only.

Published
2020

30. Multiple presence of prothrombotic risk factors in Croatian children with arterial ischemic stroke and transient ischemic attack.

Author

Leniček Krleža J, Ðuranović V, Bronić A, Coen Herak D, Mejaški-Bošnjak V, and Zadro R

Subjects
Adolescent, Antithrombin III metabolism, Blood Coagulation Disorders blood, Child, Cholesterol blood, Croatia, Female, Homocysteine blood, Humans, Ischemic Attack, Transient blood, Lupus Coagulation Inhibitor blood, Male, Protein C metabolism, Protein S metabolism, Risk Factors, Stroke blood, Blood Coagulation Disorders complications, Ischemic Attack, Transient etiology, Stroke etiology
Abstract

Aim: To determine the frequency of inherited and acquired prothrombotic risk factors in children with arterial ischemic stroke (AIS) and transient ischemic attacks (TIA) in Croatia., Methods: We investigated 14 prothrombotic risk factors using blood samples from 124 children with AIS or TIA and 42 healthy children. Prothrombotic risk factors were classified into five groups: natural coagulation inhibitors (antithrombin, protein C, protein S), blood coagulation factors (FV Leiden and FII 20210), homocysteine, lipid and lipoprotein profile (lipoprotein (a), triglycerides, total, high- and low-density lipoprotein), and antiphospholipid antibodies (lupus anticoagulant, anticardiolipin, and antiphosphatidylserine antibodies)., Results: The most common prothrombotic risk factor was elevated lipoprotein (a), which was identified in about 31% of patients and in 24% of controls. Natural coagulation inhibitors were decreased in about 19% of patients, but not in controls. Pathological values of homocysteine, blood coagulation factor polymorphisms, and antiphospholipid antibodies were found in similar frequencies in all groups. Fourteen children with AIS and TIA (11.3%) and no children from the control group had three or more investigated risk factors., Conclusion: The presence of multiple prothrombotic risk factors in children with cerebrovascular disorder suggests that a combination of risk factors rather than individual risk factors could contribute to cerebrovascular disorders in children.

Published
2013
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31. Salivary peroxidase levels in patients with AIDS.

Author

Vucicevic-Boras V, Brozovic S, Cekic-Arambasin A, Zadro R, Devcic T, Begovac J, and Brailo V

Subjects
Adult, Female, Humans, Male, Middle Aged, Saliva metabolism, Secretory Rate, Sexuality, Acquired Immunodeficiency Syndrome enzymology, Peroxidase metabolism, Saliva enzymology
Abstract

The main consequences of human immunodeficiency virus (HIV) infection and AIDS are frequent and persistent opportunistic infections at mucosal surfaces, but data upon impaired oral mucosal response in AIDS patients are still lacking. - The aim of this study was to determine salivary flow rates and peroxidase levels in unstimulated whole saliva in AIDS patients together with comparison to the healthy controls. Salivary peroxidase levels were determined according to Putter and Becker in 20 AIDS patients and 18 HIV-seronegative healthy controls. Statistical analysis was performed using Student t-test. Salivary peroxidase levels were significantly increased in the AIDS group (9.41 +/- 8.50 kU/L; p<0.009) when compared to the healthy controls (3.1 +/- 2.0 kU/L). Salivary flow rates were significantly decreased in AIDS patients (0.17+/-0.11 ml/min, p<0.009) when compared with healthy controls (0.58 +/- 0.19 ml/min). Elevated salivary peroxidase levels indicate increased salivary antimicrobial activity in AIDS patients.

Published
2003

32. Lack of association between burning mouth syndrome and hematinic deficiencies.

Author

Vucicevic-Boras V, Topic B, Cekic-Arambasin A, Zadro R, and Stavljenic-Rukavina A

Subjects
Adult, Aged, Aged, 80 and over, Anemia, Iron-Deficiency blood, Burning Mouth Syndrome blood, Calcium blood, Female, Folic Acid blood, Folic Acid Deficiency blood, Humans, Iron blood, Magnesium blood, Male, Middle Aged, Vitamin B 12 blood, Vitamin B 12 Deficiency blood, Anemia, Iron-Deficiency complications, Burning Mouth Syndrome etiology, Folic Acid Deficiency complications, Vitamin B 12 Deficiency complications
Abstract

The aim of our investigation was to evaluate possible connection between burning mouth syndrome and hematinic deficiencies, a hypothesis previously reported in the literature with contradictory results. Serum levels of iron, vitamin B12, folic acid, calcium and magnesium were determined in 41 (aged 31-87 years, mean 68,7 yrs) patients with burning mouth syndrome and 35 matched controls (35-83, mean 63 yrs). Serum iron levels were determined according to Fairbanks and Klee. Levels of vitamin B12 and folic acid were determined on commercially available kits (Imx12 and Imx folate assay, Abbot Park lab, IL, USA) on Imx analyser. Calcium and magnesium levels were determined using atomic absorption spectrophotometry. No statistically significant differences in serum levels of iron, folic acid, calcium and magnesium were found between patients with burning mouth syndrome and controls. Statistically significant lowered vitamin B12 levels were found in patients with burning mouth syndrome. Our results suggest that serum deficiencies of iron, folic acid, calcium and magnesium are not etiological factor in patients with burning mouth syndrome.

Published
2001

33. Prevalence and association of the factor V Leiden and prothrombin G20210A in healthy subjects and patients with venous thromboembolism.

Author

Coen D, Zadro R, Honović L, Banfić L, and Stavljenić Rukavina A

Subjects
Adolescent, Adult, Aged, Aged, 80 and over, Croatia, DNA Mutational Analysis, Female, Humans, Male, Middle Aged, Polymorphism, Genetic, Factor V genetics, Point Mutation, Prothrombin genetics, Thromboembolism genetics, Venous Thrombosis genetics
Abstract

Aim: To determine the prevalences of factor V Leiden and the G20210A mutation in the prothrombin gene (PT20210A) and the frequency of their association in healthy subjects and in patients with venous thromboembolism (VTE)., Method: We studied 160 Croatian patients with at least one episode of VTE and 155 healthy subjects as a control group. Genomic DNA was extracted according to standard procedures and the presence of factor V Leiden and PT20210A were determined by polymerase chain reaction-restriction fragment length polymorphism method., Results: The prevalences of factor V Leiden and PT20210A were in VTE patients 21% and 8% respectively, and 4% in controls for both mutations. Additionally, 4 patients were affected by double heterozygous defects, corresponding to a frequency of 3%, whereas none of the controls were double heterozygotes. The coexistence of the PT20210A in heterozygous carriers of factor V Leiden was 15% in VTE group. The results obtained for different subgroups of VTE patients showed that the carriers of analyzed mutations were identified only in subgroups of patients with deep venous thrombosis of lower extremities (in 30 patients with factor V Leiden and in 13 patients with PT20210A) and superficial venous thrombosis (in 3 patients with factor V Leiden)., Conclusion: The prevalences of factor V Leiden and PT20210A in analyzed population of VTE patients are higher than in the group of healthy subjects. High frequency of association between both mutations supports the need to perform simultaneous genetic analyses of factor V Leiden and PT20210A in all VTE patients.

Published
2001

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