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1. 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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2. 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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3. Guidelines for the measurement of BCR-ABL1 transcripts in chronic myeloid leukaemia

Author

Foroni, L, Wilson, G, Gerrard, G, Mason, J, Grimwade, D, White, HE, de Castro, DG, Austin, S, Awan, A, Burt, E, Clench, T, Farruggia, J, Hancock, J, Irvine, AE, Kizilors, A, Langabeer, S, Milner, BJ, Nickless, G, Schuh, A, Sproul, A, Wang, L, Wickham, C, and Cross, NC

Subjects
Reverse Transcriptase Polymerase Chain Reaction, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, Practice Guidelines as Topic, Fusion Proteins, bcr-abl, Humans, RNA, Messenger, RNA, Neoplasm, Ireland, Molecular Biology, Protein Kinase Inhibitors, Societies, Medical, United Kingdom, Monitoring, Physiologic
Abstract

Molecular testing for the BCR-ABL1 fusion gene by real time quantitative polymerase chain reaction (RT-qPCR) is the most sensitive routine approach for monitoring the response to therapy of patients with chronic myeloid leukaemia. In the context of tyrosine kinase inhibitor (TKI) therapy, the technique is most appropriate for patients who have achieved complete cytogenetic remission and can be used to define specific therapeutic milestones. To achieve this effectively, standardization of the laboratory procedures and the interpretation of results are essential. We present here consensus best practice guidelines for RT-qPCR testing, data interpretation and reporting that have been drawn up and agreed by a consortium of 21 testing laboratories in the United Kingdom and Ireland in accordance with the procedures of the UK Clinical Molecular Genetics Society.

Published
2011

4. 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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5. 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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6. A certified plasmid reference material for the standardisation of BCR-ABL1 mRNA quantification by real-time quantitative PCR

Author

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

Subjects
hemic and lymphatic diseases, 610 Medicine & health, 3. Good health
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).

7. Clinical spectrum of vitreoretinal lymphoma and its association with MyD88 L265P mutation.

Author

Carreno E, Clench T, Steeples LR, Salvatore S, Lee RWJ, Dick AD, and Pawade J

Subjects
Aged, Aged, 80 and over, Biopsy, DNA Mutational Analysis, Female, Follow-Up Studies, Humans, Lymphoma diagnosis, Lymphoma metabolism, Male, Middle Aged, Myeloid Differentiation Factor 88 metabolism, Retinal Neoplasms diagnosis, Retinal Neoplasms metabolism, DNA, Neoplasm genetics, Lymphoma genetics, Mutation, Myeloid Differentiation Factor 88 genetics, Retina pathology, Retinal Neoplasms genetics, Vitreous Body pathology
Published
2019
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8. The mutational frequency of BRAF and KRAS in low-grade serous testicular neoplasms-a case series.

Author

Gwiti P, Vereczkey I, Cundell D, Aslam S, Clench T, Csernák E, Götzer K, Braybrooke J, Sohail M, and Melegh Z

Subjects
Adult, Aged, DNA Mutational Analysis, Humans, Male, Middle Aged, Cystadenocarcinoma, Serous genetics, Proto-Oncogene Proteins B-raf genetics, Proto-Oncogene Proteins p21(ras) genetics, Testicular Neoplasms genetics
Abstract

Aims: Low-grade serous neoplasms of the testis are rare neoplasms that show striking morphological similarities with the better-understood ovarian neoplasms. This study is to see if there are similar molecular abnormalities in these two tumours. The cell of origin, relationship with serous ovarian tumour and the pathogenesis of these neoplasms are not fully established., Methods and Results: As low-grade serous ovarian neoplasms are known to harbour mutations in the MAPK pathway, we investigated the involvement of BRAF and KRAS mutations in low-grade testicular serous tumour by performing mutational analysis of seven cases. Mutational analysis was performed by melting curve analysis followed by bidirectional sequencing. Our findings showed BRAF and/or KRAS mutations in three of the seven cases, which is similar to the proportions reported in low-grade ovarian serous neoplasms. Of these three cases, one showed co-mutation of BRAF and KRAS., Conclusion: The findings of this study are in support of a role of aberrant signalling of the MAPK pathway in the pathogenesis of low-grade serous testicular neoplasms, and provide a genetic link between low-grade testicular and ovarian serous tumours., (© 2017 John Wiley & Sons Ltd.)

Published
2017
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9. Molecular diagnosis of the myeloproliferative neoplasms: UK guidelines for the detection of JAK2 V617F and other relevant mutations.

Author

Bench AJ, White HE, Foroni L, Godfrey AL, Gerrard G, Akiki S, Awan A, Carter I, Goday-Fernandez A, Langabeer SE, Clench T, Clark J, Evans PA, Grimwade D, Schuh A, McMullin MF, Green AR, Harrison CN, and Cross NC

Subjects
Bone Marrow Neoplasms enzymology, DNA Mutational Analysis, Genetic Predisposition to Disease, Humans, Mutation, Myeloproliferative Disorders enzymology, United Kingdom, Bone Marrow Neoplasms diagnosis, Bone Marrow Neoplasms genetics, Janus Kinase 2 genetics, Myeloproliferative Disorders diagnosis, Myeloproliferative Disorders genetics
Abstract

Molecular genetic assays for the detection of the JAK2 V617F (c.1849G>T) and other pathogenetic mutations within JAK2 exon 12 and MPL exon 10 are part of the routine diagnostic workup for patients presenting with erythrocytosis, thrombocytosis or otherwise suspected to have a myeloproliferative neoplasm. A wide choice of techniques are available for the detection of these mutations, leading to potential difficulties for clinical laboratories in deciding upon the most appropriate assay, which can lead to problems with inter-laboratory standardization. Here, we discuss the most important issues for a clinical diagnostic laboratory in choosing a technique, particularly for detection of the JAK2 V617F mutation at diagnosis. The JAK2 V617F detection assay should be both specific and sensitive enough to detect a mutant allele burden as low as 1-3%. Indeed, the use of sensitive assays increases the detection rate of the JAK2 V617F mutation within myeloproliferative neoplasms. Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays. Molecular results should be considered in the context of clinical findings and other haematological or laboratory results., (© 2012 Blackwell Publishing Ltd.)

Published
2013
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