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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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3. 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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4. 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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5. 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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6. 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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7. 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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8. 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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9. 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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10. 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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11. 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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12. 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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13. 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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14. 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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15. 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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18. 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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19. 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)

20. 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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21. 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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22. Clinical images: Castleman disease and paraneoplastic pemphigus.

Author

Kop EN and MacKenzie MA

Subjects
Adult, Castleman Disease complications, Female, Humans, Paraneoplastic Syndromes etiology, Pemphigus etiology, Radiography, Castleman Disease diagnostic imaging, Mediastinal Neoplasms diagnostic imaging, Paraneoplastic Syndromes pathology, Pemphigus pathology
Published
2010
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23. 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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