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1. Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Author

Arts, Peer, Simons, Annet, AlZahrani, Mofareh S., Yilmaz, Elanur, AlIdrissi, Eman, van Aerde, Koen J., Alenezi, Njood, AlGhamdi, Hamza A., AlJubab, Hadeel A., Al-Hussaini, Abdulrahman A., AlManjomi, Fahad, Alsaad, Alaa B., Alsaleem, Badr, Andijani, Abdulrahman A., Asery, Ali, Ballourah, Walid, Bleeker-Rovers, Chantal P., van Deuren, Marcel, van der Flier, Michiel, Gerkes, Erica H., Gilissen, Christian, Habazi, Murad K., Hehir-Kwa, Jayne Y., Henriet, Stefanie S., Hoppenreijs, Esther P., Hortillosa, Sarah, Kerkhofs, Chantal H., Keski-Filppula, Riikka, Lelieveld, Stefan H., Lone, Khurram, MacKenzie, Marius A., Mensenkamp, Arjen R., Moilanen, Jukka, Nelen, Marcel, ten Oever, Jaap, Potjewijd, Judith, van Paassen, Pieter, Schuurs-Hoeijmakers, Janneke H. M., Simon, Anna, Stokowy, Tomasz, van de Vorst, Maartje, Vreeburg, Maaike, Wagner, Anja, van Well, Gijs T. J., Zafeiropoulou, Dimitra, Zonneveld-Huijssoon, Evelien, Veltman, Joris A., van Zelst-Stams, Wendy A. G., Faqeih, Eissa A., van de Veerdonk, Frank L., Netea, Mihai G., and Hoischen, Alexander

Published
2019
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2. Cytomorphology review of 100 newly diagnosed lower-risk MDS patients in the European LeukemiaNet MDS (EUMDS) registry reveals a high inter-observer concordance

Author

de Swart, Louise, Smith, Alex, MacKenzie, Marius, Symeonidis, Argiris, Neukirchen, Judith, Mikulenková, Dana, Vallespí, Teresa, Zini, Gina, Paszkowska-Kowalewska, Malgorzata, Kruger, Anton, Saft, Leonie, Fenaux, Pierre, Bowen, David, Hellström-Lindberg, Eva, Čermák, Jaroslav, Stauder, Reinhard, Tatic, Aurelia, Holm, Mette Skov, Malcovati, Luca, Mądry, Krzysztof, Droste, Jackie, Blijlevens, Nicole, de Witte, Theo, and Germing, Ulrich

Published
2017
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4. Validation of the revised international prognostic scoring system (IPSS-R) in patients with lower-risk myelodysplastic syndromes: a report from the prospective European LeukaemiaNet MDS (EUMDS) registry

Author

de Swart, Louise, Smith, Alex, Johnston, Thomas W., Haase, Detlef, Droste, Jackie, Fenaux, Pierre, Symeonidis, Argiris, Sanz, Guillermo, Hellström-Lindberg, Eva, Cermák, Jaroslav, Germing, Ulrich, Stauder, Reinhard, Georgescu, Otilia, MacKenzie, Marius, Malcovati, Luca, Holm, Mette S., Almeida, Antonio M., Mądry, Krzysztof, Slama, Borhane, Guerci-Bresler, Agnes, Sanhes, Laurence, Beyne-Rauzy, Odile, Luño, Elisa, Bowen, David, and de Witte, Theo

Published
2015
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5. A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome

Author

Monteferrario, Davide, Bolar, Nikhita A., Marneth, Anna E., Hebeda, Konnie M., Bergevoet, Saskia M., Veenstra, Hans, Laros-van Gorkom, Britta A.P., MacKenzie, Marius A., Khandanpour, Cyrus, Botezatu, Lacramiora, Fransen, Erik, Van Camp, Guy, Duijnhouwer, Anthonie L., Salemink, Simone, Willemsen, Brigith, Huls, Gerwin, Preijers, Frank, Van Heerde, Waander, Jansen, Joop H., Kempers, Marlies J.E., Loeys, Bart L., Van Laer, Lut, and Van der Reijden, Bert A.

Published
2014
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6. Bortezomib maintenance after R‐CHOP, cytarabine and autologous stem cell transplantation in newly diagnosed patients with mantle cell lymphoma, results of a randomised phase II HOVON trial

Author

Doorduijn, Jeanette K., primary, Zijlstra, Josee M., additional, Lugtenburg, Pieternella J., additional, Kersten, Marie Josee, additional, Böhmer, Lara H., additional, Minnema, Monique C., additional, MacKenzie, Marius A., additional, van Marwijk Kooij, Rien, additional, Jongh, Eva, additional, Snijders, Tjeerd J.F., additional, Weerdt, Okke, additional, Gelder, Michel, additional, Hoogendoorn, Mels, additional, Leys, Rineke B.L., additional, Kibbelaar, Robby E., additional, Jong, Daphne, additional, Chitu, Dana A., additional, Van’t Veer, Mars B., additional, and Kluin‐Nelemans, Hanneke C., additional

Published
2020
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10. Additional file 7: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Author

Arts, Peer, Simons, Annet, Mofareh AlZahrani, Elanur Yilmaz, AlIdrissi, Eman, Aerde, Koen, Njood Alenezi, AlGhamdi, Hamza, Hadeel AlJubab, Abdulrahman Al-Hussaini, AlManjomi, Fahad, Alsaad, Alaa, Alsaleem, Badr, Abdulrahman Andijani, Asery, Ali, Ballourah, Walid, Bleeker-Rovers, Chantal, Deuren, Marcel, Flier, Michiel, Gerkes, Erica, Gilissen, Christian, Habazi, Murad, Hehir-Kwa, Jayne, Henriet, Stefanie, Hoppenreijs, Esther, Hortillosa, Sarah, Kerkhofs, Chantal, Keski-Filppula, Riikka, Lelieveld, Stefan, Lone, Khurram, MacKenzie, Marius, Mensenkamp, Arjen, Moilanen, Jukka, Nelen, Marcel, Oever, Jaap, Potjewijd, Judith, Paassen, Pieter, Schuurs-Hoeijmakers, Janneke, Simon, Anna, Stokowy, Tomasz, Vorst, Maartje, Vreeburg, Maaike, Wagner, Anja, Well, Gijs, Zafeiropoulou, Dimitra, Zonneveld-Huijssoon, Evelien, Veltman, Joris, Zelst-Stams, Wendy, Faqeih, Eissa, Veerdonk, Frank, Netea, Mihai, and Hoischen, Alexander

Subjects
3. Good health
Abstract

Additional material and references. (DOCX 31 kb)

Published
2019
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11. Impact of Three Courses of Intensified CHOP Prior to High-Dose Sequential Therapy Followed by Autologous Stem-Cell Transplantation As First-Line Treatment in Poor-Risk, Aggressive Non-Hodgkinʼs Lymphoma: Comparative Analysis of Dutch-Belgian Hemato-Oncology Cooperative Group Studies 27 and 40

Author

van Imhoff, Gustaaf W., van der Holt, Bronno, MacKenzie, Marius A., vanʼt Veer, Mars B., Wijermans, Pierre W., Ossenkoppele, Gerrit J., Schouten, Harry C., Sonneveld, Pieter, Steijaert, Monique M.C., Kluin, Philip M., Kluin-Nelemans, Hanneke C., and Verdonck, Leo F.

Published
2005
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12. Treatment of secondary central nervous system lymphoma with intrathecal rituximab, high-dose methotrexate, and R-DHAP followed by autologous stem cell transplantation: Results of the HOVON 80 phase 2 study

Author

Doorduijn, Jeanette K., van Imhoff, Gustaaf W., van der Holt, Bronno, Schouten, Harry C., Schaafsma, Martijn R., MacKenzie, Marius A., Baars, Joke W., Kersten, Marie José, Lugtenburg, Pieternella J., van den Bent, Martin J., Enting, Roelien H., Spoelstra, Fokje M., Poortmans, Philip, Bromberg, Jacoline E. C., Damage and Repair in Cancer Development and Cancer Treatment (DARE), Stem Cell Aging Leukemia and Lymphoma (SALL), RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: MA Hematologie (9), Interne Geneeskunde, CCA - Cancer Treatment and Quality of Life, Clinical Haematology, and Cancer Center Amsterdam

Subjects
treatment, AGGRESSIVE LYMPHOMA, MABTHERA INTERNATIONAL TRIAL, clinical trial, methotrexate, STUDY-GROUP DSHNHL, INTRAOCULAR LYMPHOMA, rituximab, PRIMARY CNS LYMPHOMA, NON-HODGKINS-LYMPHOMA, CHEMOTHERAPY PLUS RITUXIMAB, MARROW-TRANSPLANTATION, ELDERLY-PATIENTS, secondary CNS lymphoma, transplantation, RESPONSE CRITERIA
Abstract

The prognosis of central nervous system (CNS) relapse of systemic non-Hodgkin lymphoma is poor with 1-year survival historically at 0% to 20%. Aiming to improve these results, we performed a multicenter phase 2 study in patients with a CNS relapse, with or without concurrent systemic relapse. Treatment consisted of 2 cycles of R-DHAP alternating with high-dose methotrexate (MTX) and was combined with intrathecal rituximab. Responding patients received a third R-DHAP-MTX cycle followed by busulfan and cyclophosphamide myeloablative therapy and autologous stem cell transplantation. In patients with persistent cerebrospinal fluid lymphoma after cycle 1, the intrathecal rituximab was replaced by intrathecal triple therapy, with MTX, cytarabine, and dexamethasone. Thirty-six patients were included. Eighteen had evidence of cerebrospinal fluid lymphoma, 24 had brain parenchymal disease, and 20 (56%) had concurrent systemic disease. The overall response rate after 2 R-DHAP-MTX was 53% (19/36), with 22% (8/36) complete remission. Fifteen patients (42%) underwent a transplant. One-year progression-free survival was 19% (95% confidence interval, 9-34): 25% in patients without and 15% in patients with systemic disease. One-year overall survival was 25% (95% confidence interval, 12-40). This treatment regimen did not result in a major improvement of outcome of secondary CNS lymphoma, especially when concurrent systemic disease was present. Registered in the Dutch trial register www. trialregister.nl, NTR1757; EudraCT number 2006-002141-37.

Published
2017

16. The Neurologic Basis of Fever

Author

MacKenzie, Marius A., Pieters, Gerlach F.F.M., Hermus, Ad R.M.M., Wheless, James W., El-Radhi, A.S., Saper, Clifford B., and Breder, Christopher D.

Published
1994
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18. Poikilothermia in man: pathophysiology and clinical implications

Author

MacKenzie, Marius A., Hermus, Ad R.M.M., Wollersheim, Hub C.H., Pieters, Gerlach, F.F.M., Smals, Anthony G.H., Binkhorst, Rob A., Thien, Theo, and Kloppenborg, Peter W.C.

Subjects
Biological control systems -- Abnormalities, Homeostasis -- Physiological aspects, Body temperature -- Physiological aspects
Published
1991

19. Treatment of secondary central nervous system lymphoma with intrathecal rituximab, high‐dose methotrexate, and R‐DHAP followed by autologous stem cell transplantation: results of the HOVON 80 phase 2 study

Author

Doorduijn, Jeanette K., primary, van Imhoff, Gustaaf W., additional, van der Holt, Bronno, additional, Schouten, Harry C., additional, Schaafsma, Martijn R., additional, MacKenzie, Marius A., additional, Baars, Joke W., additional, Kersten, Marie José, additional, Lugtenburg, Pieternella J., additional, van den Bent, Martin J., additional, Enting, Roelien H., additional, Spoelstra, Fokje M., additional, Poortmans, Philip, additional, and Bromberg, Jacoline E.C., additional

Published
2016
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21. Bortezomib Maintenance Therapy after Induction with R-CHOP, ARA-C and Autologous Stem Cell Transplantation in Newly Diagnosed MCL Patients, Results of a Multicenter Phase II HOVON Study

Author

Doorduijn, Jeanette K, primary, Minnema, Monique C., additional, Kersten, Marie Jose, additional, Lugtenburg, Pieternella J, additional, Schipperus, Martin R., additional, van Marwijk Kooy, Marinus, additional, MacKenzie, Marius, additional, Zijlstra, Josée M, additional, Berenschot, Henriette W, additional, Schaafsma, M. R, additional, Chitu, Dana A, additional, and Kluin-Nelemans, Hanneke C., additional

Published
2015
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22. International Comparison Study of Toxic Iron Assays in Patients with Iron Overload Disorders

Author

De Swart, Louise, primary, Hendriks, Jan C.M., additional, Van der Vorm, Lisa, additional, Cabantchik, Ioav Z., additional, Evans, Patricia J., additional, Hod, Eldad A., additional, Brittenham, Gary M., additional, Furman, Yael, additional, Janssen, Mirian C.H., additional, Biemond, Bart J, additional, MacKenzie, Marius A., additional, Mattijssen, Vera E.J.M., additional, Origa, Raffaella, additional, Galanello, Renzo, additional, Hider, Robert C., additional, and Swinkels, Dorine W., additional

Published
2014
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23. Cytomorphology review of 100 newly diagnosed lower-risk MDS patients in the European LeukemiaNet MDS (EUMDS) registry reveals a high inter-observer concordance.

Author

Swart, Louise, Smith, Alex, MacKenzie, Marius, Symeonidis, Argiris, Neukirchen, Judith, Mikulenková, Dana, Vallespí, Teresa, Zini, Gina, Paszkowska-Kowalewska, Malgorzata, Kruger, Anton, Saft, Leonie, Fenaux, Pierre, Bowen, David, Hellström-Lindberg, Eva, Čermák, Jaroslav, Stauder, Reinhard, Tatic, Aurelia, Holm, Mette, Malcovati, Luca, and Mądry, Krzysztof

Subjects
MYELODYSPLASTIC syndromes, CYTODIAGNOSIS, HISTOPATHOLOGY, BONE marrow, DIAGNOSIS, BONE marrow examination, RESEARCH evaluation, RESEARCH bias, ACQUISITION of data
Abstract

The European LeukemiaNet MDS (EUMDS) registry is collecting data of myelodysplastic syndrome (MDS) patients belonging to the IPSS low or intermediate-1 category, newly diagnosed by local cytologists. The diagnosis of MDS can be challenging, and some data report inter-observer variability with regard to the assessment of the MDS subtype. In order to ensure that correct diagnoses were made by the participating centres, blood and bone marrow slides of 10% of the first 1000 patients were reviewed by an 11-person panel of cytomorphologists. All slides were rated by at least 3 panel members (median 8 panel members; range 3-9). Marrow slides from 98 out of 105 patients were of good quality and therefore could be rated properly according to the WHO 2001 classification, including assessment of dysplastic lineages. The agreement between the reviewers whether the diagnosis was MDS or non-MDS was strong with an intra-class correlation coefficient (ICC) of 0.85. Six cases were detected not to fit the entry criteria of the registry, because they were diagnosed uniformly as CMML or AML by the panel members. The agreement by WHO 2001 classification was strong as well (ICC = 0.83). The concordance of the assessment of dysplastic lineages was substantial for megakaryopoiesis and myelopoiesis and moderate for erythropoiesis. Our data show that in general, the inter-observer agreement was high and a very low percentage of misdiagnosed cases had been entered into the EUMDS registry. Further studies including histomorphology are warranted. [ABSTRACT FROM AUTHOR]

Published
2017
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24. A Dominant-NegativeGFI1BMutation in the Gray Platelet Syndrome

Author

Monteferrario, Davide, primary, Bolar, Nikhita A., additional, Marneth, Anna E., additional, Hebeda, Konnie M., additional, Bergevoet, Saskia M., additional, Veenstra, Hans, additional, Laros-van Gorkom, Britta A.P., additional, MacKenzie, Marius A., additional, Khandanpour, Cyrus, additional, Botezatu, Lacramiora, additional, Fransen, Erik, additional, Van Camp, Guy, additional, Duijnhouwer, Anthonie L., additional, Salemink, Simone, additional, Willemsen, Brigith, additional, Huls, Gerwin, additional, Preijers, Frank, additional, Van Heerde, Waander, additional, Jansen, Joop H., additional, Kempers, Marlies J.E., additional, Loeys, Bart L., additional, Van Laer, Lut, additional, and Van der Reijden, Bert A., additional

Published
2014
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25. Validation Of The Revised International Prognostic Scoring System (IPSS-R) In 1000 Newly Diagnosed MDS Patients With Low- and Intermediate-1 Risk MDS In The European Leukemianet MDS (EUMDS) Registry

Author

Swart, Louise de, primary, Smith, Alex, additional, Johnston, Tom, additional, Haase, Detlef, additional, Droste, Jackie, additional, Fenaux, Pierre, additional, Symeonidis, Argiris, additional, Sanz, Guillermo, additional, Hellström-Lindberg, Eva, additional, Cermak, Jaroslav, additional, Germing, Ulrich, additional, Stauder, Reinhard, additional, Georgescu, Otilia, additional, MacKenzie, Marius, additional, Malcovati, Luca, additional, Holm, Mette Skov, additional, Almeida, Antonio Medina, additional, Madry, Krzysztof, additional, Slama, Borhane, additional, Guerci-Bresler, Agnès, additional, Sanhes, Laurence, additional, Beyne-Rauzy, Odile, additional, Luño, Elisa, additional, Bowen, David, additional, and de Witte, Theo, additional

Published
2013
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26. A Dominant-Negative GFI1B Mutation in Gray Platelet Syndrome

Author

Van der Reijden, Bert A., primary, Monteferrario, Davide, additional, Bolar, Nikhita, additional, Marneth, Anna, additional, Hebeda, Konnie, additional, Bergevoet, Saskia, additional, Veenstra, Hans, additional, Gorkum, Britta Laros-van, additional, MacKenzie, Marius, additional, Khandanpour, Cyrus, additional, Botezatu, Lacramioara, additional, Fransen, Erik, additional, Van Camp, Guy, additional, Duijnhouwer, Anthonie, additional, Salemink, Simone, additional, Willemsen, Brigith, additional, Huls, Gerwin, additional, Preijers, Franks, additional, van Heerde, Waander L., additional, Jansen, Joop H., additional, Kempers, Marlies, additional, Loeys, Bart, additional, and Van Laer, Lut, additional

Published
2013
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27. Validation of the revised international prognostic scoring system ( IPSS-R) in patients with lower-risk myelodysplastic syndromes: a report from the prospective European LeukaemiaNet MDS ( EUMDS) registry.

Author

Swart, Louise, Smith, Alex, Johnston, Thomas W., Haase, Detlef, Droste, Jackie, Fenaux, Pierre, Symeonidis, Argiris, Sanz, Guillermo, Hellström‐Lindberg, Eva, Cermák, Jaroslav, Germing, Ulrich, Stauder, Reinhard, Georgescu, Otilia, MacKenzie, Marius, Malcovati, Luca, Holm, Mette S., Almeida, Antonio M., Mądry, Krzysztof, Slama, Borhane, and Guerci‐Bresler, Agnes

Subjects
HEALTH outcome assessment, MEDICAL registries, MYELODYSPLASTIC syndromes, QUALITY of life, PATIENTS, PROGNOSIS, DISEASE risk factors
Abstract

Baseline characteristics, disease-management and outcome of 1000 lower-risk myelodysplastic syndrome ( MDS) patients within the European LeukaemiaNet MDS ( EUMDS) Registry are described in conjunction with the validation of the revised International Prognostic Scoring System ( IPSS-R). The EUMDS registry confirmed established prognostic factors, such as age, gender and World Health Organization 2001 classification. Low quality of life ( EQ-5D visual analogue scale score) was significantly associated with reduced survival. A high co-morbidity index predicted poor outcome in univariate analyses. The IPSS-R identified a large group of 247 patients with Low (43%) and Very low (23%) risk score within the IPSS intermediate-1 patients. The IPSS-R also identified 32 High or Very high risk patients within the IPSS intermediate-1 patients. IPSS-R was superior to the IPSS for predicting both disease progression and survival. Seventy percent of patients received MDS-specific treatment or supportive care, including red blood cell transfusions (51%), haematopoietic growth factors (58%) and iron chelation therapy (8%), within 2 years of diagnosis; while 30% of the patients only required active monitoring. The IPSS-R proved its utility as a more refined risk stratification tool for the identification of patients with a very good or poor prognosis and in this lower-risk MDS population. [ABSTRACT FROM AUTHOR]

Published
2015
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28. Early Mortality in 1000 Newly Diagnosed MDS Patients with Low- and Intermediate-1 Risk MDS in the European Leukemianet MDS (EUMDS) Registry

Author

de Swart, Louise, primary, Smith, Alex, additional, Fenaux, Pierre, additional, Sanz, Guillermo, additional, Hellstrom-Lindberg, Eva, additional, Symeonidis, Argyris, additional, Cermak, Jaroslav, additional, Germing, Ulrich, additional, Stauder, Reinhard, additional, Georgescu, Otilia, additional, MacKenzie, Marius, additional, Malcovati, Luca, additional, Holm, Mette Skov, additional, Madry, Krzysztof, additional, Park, Sophie, additional, Beyne-Rauzy, Odile, additional, Droste, Jackie, additional, Bowen, David, additional, and de Witte, Theo, additional

Published
2012
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29. Prognostic Relevance of the Kinetics of Worsening of Cytopenias in Lower-Risk MDS: A Substudy From the European Leukemianet Low Risk MDS (EUMDS) Registry

Author

Itzykson, Raphael, primary, Smith, Alex, additional, de Witte, Theo M., additional, Droste, Jackie, additional, Stauder, Reinhard, additional, Symeonidis, Argyris, additional, Hellstrom-Lindberg, Eva, additional, Sanz, Guillermo, additional, Cermak, Jaroslav, additional, Georgescu, Otilia, additional, Skov-Holm, Mette, additional, Germing, Ulrich, additional, MacKenzie, Marius, additional, Beyne-Rauzy, Odile, additional, Malcovati, Luca, additional, Bowen, David, additional, and Fenaux, Pierre, additional

Published
2012
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30. Transfusion-Dependency Is the Most Important Prognostic Factor for Survival in 1000 Newly Diagnosed MDS Patients with Low- and Intermediate-1 Risk MDS in the European LeukemiaNet MDS Registry

Author

de Swart, Louise, primary, Smith, Alex, additional, Fenaux, Pierre, additional, Bowen, David, additional, Sanz, Guillermo, additional, Hellström-Lindberg, Eva, additional, Symeonidis, Argyris, additional, Cermak, Jaroslav, additional, Germing, Ulrich, additional, Stauder, Reinhard, additional, Georgescu, Otilia, additional, MacKenzie, Marius, additional, Malcovati, Luca, additional, Holm, Mette Skov, additional, Park, Sophie, additional, Beyne-Rauzy, Odile, additional, Droste, Jackie, additional, and de Witte, Theo, additional

Published
2011
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31. Disease-Management of Low- and Intermediate-1 Risk Myelodysplastic Syndromes: Report on 800 Newly Diagnosed MDS Patients From the European LeukemiaNet MDS Registry

Author

de Swart, Louise, primary, Smith, Alex, additional, Fenaux, Pierre, additional, Symeonidis, Argyris, additional, Hellström-Lindberg, Eva, additional, Sanz, Guillermo, additional, Cermak, Jaroslav, additional, Georgescu, Otilia, additional, Germing, Ulrich, additional, MacKenzie, Marius, additional, Beyne-Rauzy, Odile, additional, Malcovati, Luca, additional, Stauder, Reinhard, additional, Droste, Jackie, additional, Bowen, David, additional, and de Witte, Theo, additional

Published
2010
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32. The Population-Based ‘real world’ of Low Risk Myelodysplastic Syndromes; Second Interim Analysis of the European LeukemiaNet MDS Registry at 800 Registered New Patients

Author

Bowen, David, primary, Smith, Alex, additional, Droste, Jackie, additional, Fenaux, Pierre, additional, Symeonidis, Argyris, additional, Hellstrom-Lindberg, Eva, additional, Sanz, Guillermo F, additional, Cermak, Jaroslav, additional, Georgescu, Otilia, additional, Germing, Ulrich, additional, MacKenzie, Marius, additional, Stauder, Reinhard, additional, Beyne-Rauzy, Odile, additional, Malcovati, Luca, additional, and de Witte, Theo, additional

Published
2010
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33. Health-Related Quality of Life In Newly Diagnosed Low Risk and Intermediate-1 Risk MDS: Report on the First 683 Patients From the European LeukemiaNet Registry

Author

Stauder, Reinhard, primary, Smith, Alex, additional, Witte, Theo de, additional, Droste, Jackie, additional, Fenaux, Pierre, additional, Symeonidis, Argyris, additional, Hellstrom-Lindberg, Eva, additional, Sanz, Guillermo F, additional, Cermak, Jaroslav, additional, Georgescu, Otilia, additional, Germing, Ulrich, additional, MacKenzie, Marius, additional, Beyne-Rauzy, Odile, additional, Malcovati, Luca, additional, and Bowen, David, additional

Published
2010
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34. European Registry for Low Risk and Intermediate-1 Risk MDS: Base Line Report On First 400 Registered Patients.

Author

de Witte, T. M., primary, Smith, Alex, additional, Droste, Jackie, additional, Fenaux, Pierre, additional, Symeonidis, Argyris, additional, Hellstrom-Lindberg, Eva, additional, Sanz, Guillermo, additional, Cermak, Jaroslav, additional, Georgescu, Otilia, additional, Germing, Ulrich, additional, MacKenzie, Marius, additional, Stauder, Reinhard, additional, Rauzy, Odile Beyne, additional, and Bowen, David T., additional

Published
2009
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35. Intensified 12-week CHOP (I-CHOP) plus G-CSF compared with standard 24-week CHOP (CHOP-21) for patients with intermediate-risk aggressive non-Hodgkin lymphoma: a phase 3 trial of the Dutch-Belgian Hemato-Oncology Cooperative Group (HOVON)

Author

Verdonck, Leo F., primary, Notenboom, Annelise, additional, de Jong, Daphne D., additional, MacKenzie, Marius A., additional, Verhoef, Gregor E. G., additional, Kramer, Mark H. H., additional, Ossenkoppele, Gert J., additional, Doorduijn, Jeanette K., additional, Sonneveld, Pieter, additional, and van Imhoff, Gustaaf W., additional

Published
2006
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40. Poikilothermia in Man

Author

Mackenzie, Marius A., primary, Smals, Anthony G.H., additional, Binkhorst, Rob A., additional, Thien, Theo, additional, and Kloppenborg, Peter W.C., additional

Published
1991
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42. Intensified 12-week CHOP (I-CHOP) plus G-CSF compared with standard 24-week CHOP (CHOP-21) for patients with intermediate-risk aggressive non-Hodgkin lymphoma: a phase 3 trial of the Dutch-Belgian Hemato-Oncology Cooperative Group (HOVON)

Author

Verdonck, Leo F., Notenboom, Annelise, de Jong, Daphne D., MacKenzie, Marius A., Verhoef, Gregor E. G., Kramer, Mark H. H., Ossenkoppele, Gert J., Doorduijn, Jeanette K., Sonneveld, Pieter, and van Imhoff, Gustaaf W.

Abstract

Optimal dose and timing of CHOP (cyclophosphamide, doxorubicin, vincristine, and prednisone) chemotherapy for aggressive non-Hodgkin lymphoma (NHL) is still an unresolved issue. We assessed whether dose intensifications with cyclophosphamide and doxorubicin might improve outcome in younger patients with intermediate-risk aggressive NHL. Previously untreated patients were assigned to receive either 8 courses of standard CHOP (n = 239) or 6 courses of intensified (I)–CHOP (n = 238). Although there was a tendency in favor of I-CHOP for overall survival (OS), disease-free survival (DFS), and event-free survival (EFS), the differences were not significant. However, although these analyses were not planned, when the intermediate-risk group was divided into low-intermediate- and high-intermediate-risk patients according to the International Prognostic Index (IPI), low-intermediate-risk patients had improved 6-year OS (67% vs 52%; P = .05), DFS (58% vs 45%; P = .06), and EFS (41% vs 30%; P = .21) when they were treated with I-CHOP compared with standard CHOP. On the other hand, high-intermediate-risk patients seem to have no benefit from I-CHOP. Although clinically relevant side effects occurred more often in the I-CHOP arm, treatment-related mortality was similar. These data suggest that I-CHOP might be preferable to standard CHOP in younger patients with low-intermediate-risk aggressive NHL.

Published
2007
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43. Additional file 7: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Author

Arts, Peer, Simons, Annet, Mofareh AlZahrani, Elanur Yilmaz, AlIdrissi, Eman, Aerde, Koen, Njood Alenezi, AlGhamdi, Hamza, Hadeel AlJubab, Abdulrahman Al-Hussaini, AlManjomi, Fahad, Alsaad, Alaa, Alsaleem, Badr, Abdulrahman Andijani, Asery, Ali, Ballourah, Walid, Bleeker-Rovers, Chantal, Deuren, Marcel, Flier, Michiel, Gerkes, Erica, Gilissen, Christian, Habazi, Murad, Hehir-Kwa, Jayne, Henriet, Stefanie, Hoppenreijs, Esther, Hortillosa, Sarah, Kerkhofs, Chantal, Keski-Filppula, Riikka, Lelieveld, Stefan, Lone, Khurram, MacKenzie, Marius, Mensenkamp, Arjen, Moilanen, Jukka, Nelen, Marcel, Oever, Jaap, Potjewijd, Judith, Paassen, Pieter, Schuurs-Hoeijmakers, Janneke, Simon, Anna, Stokowy, Tomasz, Vorst, Maartje, Vreeburg, Maaike, Wagner, Anja, Well, Gijs, Zafeiropoulou, Dimitra, Zonneveld-Huijssoon, Evelien, Veltman, Joris, Zelst-Stams, Wendy, Faqeih, Eissa, Veerdonk, Frank, Netea, Mihai, and Hoischen, Alexander

Subjects
3. Good health
Abstract

Additional material and references. (DOCX 31 kb)

45. A Dominant-Negative GFI1BMutation in Gray Platelet Syndrome

Author

Van der Reijden, Bert A., Monteferrario, Davide, Bolar, Nikhita, Marneth, Anna, Hebeda, Konnie, Bergevoet, Saskia, Veenstra, Hans, Gorkum, Britta Laros-van, MacKenzie, Marius, Khandanpour, Cyrus, Botezatu, Lacramioara, Fransen, Erik, Van Camp, Guy, Duijnhouwer, Anthonie, Salemink, Simone, Willemsen, Brigith, Huls, Gerwin, Preijers, Franks, van Heerde, Waander L., Jansen, Joop H., Kempers, Marlies, Loeys, Bart, and Van Laer, Lut

Abstract

Gray platelet syndrome (GPS) is a hereditary, usually autosomal recessive bleeding disorder caused by defective production of α-granules in platelets. GPS patients show reduced numbers of platelets that are larger and have a typical gray appearance under light microscopy, caused by the lack of α-granules. We describe a large family with an autosomal dominant type of GPS characterized by mild to severe bleeding complications. In addition to large gray platelets, other GPS-associated phenomena like myelofibrosis, thrombocytopenia, and low platelet factor 4 expression were observed in affected individuals. Histopathological examination of a BM biopsy from a patient showed a cellular marrow with increased numbers of megakaryocytes that were pleomorphic in size and shape. Megakaryocytes clustered along BM sinuses and showed dysmorphic stretched features.

Published
2013
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46. Treatment of secondary central nervous system lymphoma with intrathecal rituximab, high-dose methotrexate, and R-DHAP followed by autologous stem cell transplantation: results of the HOVON 80 phase 2 study.

Author

Doorduijn JK, van Imhoff GW, van der Holt B, Schouten HC, Schaafsma MR, MacKenzie MA, Baars JW, Kersten MJ, Lugtenburg PJ, van den Bent MJ, Enting RH, Spoelstra FM, Poortmans P, and Bromberg JEC

Subjects
Adult, Aged, Central Nervous System Neoplasms mortality, Central Nervous System Neoplasms pathology, Cisplatin therapeutic use, Cytarabine therapeutic use, Dexamethasone therapeutic use, Female, Humans, Lymphoma, Non-Hodgkin mortality, Lymphoma, Non-Hodgkin pathology, Male, Middle Aged, Prognosis, Young Adult, Antineoplastic Combined Chemotherapy Protocols therapeutic use, Central Nervous System Neoplasms drug therapy, Hematopoietic Stem Cell Transplantation methods, Lymphoma, Non-Hodgkin drug therapy, Methotrexate therapeutic use, Rituximab therapeutic use, Transplantation, Autologous methods
Abstract

The prognosis of central nervous system (CNS) relapse of systemic non-Hodgkin lymphoma is poor with 1-year survival historically at 0% to 20%. Aiming to improve these results, we performed a multicenter phase 2 study in patients with a CNS relapse, with or without concurrent systemic relapse. Treatment consisted of 2 cycles of R-DHAP alternating with high-dose methotrexate (MTX) and was combined with intrathecal rituximab. Responding patients received a third R-DHAP-MTX cycle followed by busulfan and cyclophosphamide myeloablative therapy and autologous stem cell transplantation. In patients with persistent cerebrospinal fluid lymphoma after cycle 1, the intrathecal rituximab was replaced by intrathecal triple therapy, with MTX, cytarabine, and dexamethasone. Thirty-six patients were included. Eighteen had evidence of cerebrospinal fluid lymphoma, 24 had brain parenchymal disease, and 20 (56%) had concurrent systemic disease. The overall response rate after 2 R-DHAP-MTX was 53% (19/36), with 22% (8/36) complete remission. Fifteen patients (42%) underwent a transplant. One-year progression-free survival was 19% (95% confidence interval, 9-34): 25% in patients without and 15% in patients with systemic disease. One-year overall survival was 25% (95% confidence interval, 12-40). This treatment regimen did not result in a major improvement of outcome of secondary CNS lymphoma, especially when concurrent systemic disease was present. Registered in the Dutch trial register www.trialregister.nl, NTR1757; EudraCT number 2006-002141-37., (Copyright © 2016 John Wiley & Sons, Ltd.)

Published
2017
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47. Second international round robin for the quantification of serum non-transferrin-bound iron and labile plasma iron in patients with iron-overload disorders.

Author

de Swart L, Hendriks JC, van der Vorm LN, Cabantchik ZI, Evans PJ, Hod EA, Brittenham GM, Furman Y, Wojczyk B, Janssen MC, Porter JB, Mattijssen VE, Biemond BJ, MacKenzie MA, Origa R, Galanello R, Hider RC, and Swinkels DW

Subjects
Adult, Aged, Female, Humans, Male, Middle Aged, Myelodysplastic Syndromes therapy, beta-Thalassemia therapy, Blood Transfusion, Hemochromatosis blood, Iron blood, Myelodysplastic Syndromes blood, Transferrin metabolism, beta-Thalassemia blood
Abstract

Non-transferrin-bound iron and its labile (redox active) plasma iron component are thought to be potentially toxic forms of iron originally identified in the serum of patients with iron overload. We compared ten worldwide leading assays (6 for non-transferrin-bound iron and 4 for labile plasma iron) as part of an international inter-laboratory study. Serum samples from 60 patients with four different iron-overload disorders in various treatment phases were coded and sent in duplicate for analysis to five different laboratories worldwide. Some laboratories provided multiple assays. Overall, highest assay levels were observed for patients with untreated hereditary hemochromatosis and β-thalassemia intermedia, patients with transfusion-dependent myelodysplastic syndromes and patients with transfusion-dependent and chelated β-thalassemia major. Absolute levels differed considerably between assays and were lower for labile plasma iron than for non-transferrin-bound iron. Four assays also reported negative values. Assays were reproducible with high between-sample and low within-sample variation. Assays correlated and correlations were highest within the group of non-transferrin-bound iron assays and within that of labile plasma iron assays. Increased transferrin saturation, but not ferritin, was a good indicator of the presence of forms of circulating non-transferrin-bound iron. The possibility of using non-transferrin-bound iron and labile plasma iron measures as clinical indicators of overt iron overload and/or of treatment efficacy would largely depend on the rigorous validation and standardization of assays., (Copyright© Ferrata Storti Foundation.)

Published
2016
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48. The prognostic significance of the intra-follicular tumor cell proliferative rate in follicular lymphoma.

Author

Koster A, Tromp HA, Raemaekers JM, Borm GF, Hebeda K, Mackenzie MA, and van Krieken JH

Subjects
Adult, Antineoplastic Combined Chemotherapy Protocols pharmacology, Biopsy, Cell Proliferation, Disease-Free Survival, Female, Humans, Ki-67 Antigen genetics, Lymph Nodes pathology, Lymphoma, Follicular drug therapy, Male, Middle Aged, Prognosis, Time Factors, Treatment Outcome, Lymphoma, Follicular diagnosis, Lymphoma, Follicular pathology
Abstract

Background and Objectives: In follicular lymphoma histological grading is used to predict clinical behavior and to stratify patients for treatment. However, the reproducibility of histological grading is poor and the clinical significance of the difference between grade 1 and grade 2 follicular lymphoma is unclear. Data on proliferation characteristics with respect to prognosis in follicular lymphoma are inconsistent., Design and Methods: We assessed the Proliferation Index in follicles, using Mib-1 immunohistochemical staining in lymph node biopsies from 51 patients with follicular lymphoma who were receiving uniform first-line treatment consisting of cyclophosphamide, vincristine, prednisone and interferon alpha2b., Results: The median Proliferation Index was 16.9 (range 3.1-49.2). In grades 1 and 2 follicular lymphoma (n=45) it was 16.1, compared to 24.2 in grade 3 (n=6; p=0.02). At a median follow-up of 71 months, patients with a Proliferation Index below the median had a significantly prolonged time to progression (median not reached vs. 15 months for those with a Proliferation Index above the median; p=0.0006) and improved overall survival (median not reached vs. 42 months, respectively; p=0.002). In multivariate analysis, the Proliferation Index retained its predictive value. Additional prognostic information was especially provided in patients with a low International Prognostic Index. Histological grade did not predict outcome., Interpretation and Conclusions: The Proliferation Index is a biological marker that is strongly and independently predictive for outcome in follicular lymphoma, as shown even in this relatively small series of patients. It is easily applicable and reproducible and therefore superior to histological grading in identifying clinically aggressive follicular lymphoma, requiring other types of treatment.

Published
2007
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