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Cytogenetic and molecular aberrations and worse outcome for male patients in systemic mastocytosis

HC. Kluin-Nelemans, M. Jawhar, A. Reiter, B. van Anrooij, J. Gotlib, K. Hartmann, A. Illerhaus, HNG. Oude Elberink, A. Gorska, M. Niedoszytko, M. Lange, L. Scaffidi, R. Zanotti, P. Bonadonna, C. Perkins, C. Elena, L. Malcovati, K. Shoumariyeh, N....

. 2021 ; 11 (1) : 292-303. [pub] 20210101

Jazyk angličtina Země Austrálie

Typ dokumentu časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc21026313

In systemic mastocytosis (SM), the clinical features and survival vary greatly. Patient-related factors determining the outcome in SM are largely unknown. Methods: We examined the impact of sex on the clinical features, progression-free survival (PFS), and overall survival (OS) in 3403 patients with mastocytosis collected in the registry of the European Competence Network on Mastocytosis (ECNM). The impact of cytogenetic and molecular genetic aberrations on sex differences was analyzed in a subset of patients. Results: Of all patients enrolled, 55.3% were females. However, a male predominance was found in a subset of advanced SM (AdvSM) patients, namely SM with an associated hematologic neoplasm (SM-AHN, 70%; p < 0.001). Correspondingly, organomegaly (male: 23% vs. female: 13%, p = 0.007) was more, whereas skin involvement (male: 71% vs. female: 86%, p = 0.001) was less frequent in males. In all patients together, OS (p < 0.0001) was significantly inferior in males, and also within the WHO sub-categories indolent SM, aggressive SM (ASM) and SM-AHN. PFS was significantly (p = 0.0002) worse in males when all patients were grouped together; due to low numbers of events, this significance persisted only in the subcategory smoldering SM. Finally, prognostically relevant cytogenetic abnormalities (10% vs. 5%, p = 0.006) or molecular aberrations (SRSF2/ASXL1/RUNX1 profile; 63% vs. 40%, p = 0.003) were more frequently present in males. Conclusions: Male sex has a major impact on clinical features, disease progression, and survival in mastocytosis. Male patients have an inferior survival, which seems related to the fact that they more frequently develop a multi-mutated AdvSM associated with a high-risk molecular background.

3 Medizinische Klinik Universitätsmedizin Mannheim Universität Heidelberg Mannheim Germany

Allergy Unit Verona University Hospital Verona Italy

Department of Allergology Medical University of Gdansk Gdańsk Poland

Department of Biomedicine University of Basel Basel Switzerland

Department of Dermatology and Allergy Biederstein School of Medicine Technical University of Munich Munich Germany

Department of Dermatology and Venereology Allergy Centrr Kepler University Hospital Linz Austria

Department of Dermatology and Venereology Medical University of Graz Graz Austria

Department of Dermatology and Venerology Uniklinik Köln Köln Germany

Department of Dermatology Medical Center University of Freiburg Faculty of Medicine University of Freiburg Germany

Department of Dermatology University Hospitals Leuven Leuven Belgium

Department of Dermatology Venereology and Allergology Medical University of Gdansk Gdańsk Poland

Department of Haematology University Medical Center Groningen University of Groningen Groningen The Netherlands

Department of Hematology and Oncology Medical Center University of Schleswig Holstein Campus Lübeck Lübeck Germany

Department of Hematology Gustave Roussy Cancer Center Villejuif France

Department of Hematology Oncology and Stem Cell Transplantation Medical Center Faculty of Medicine University of Freiburg Freiburg Germany

Department of Hematology Semmelweis University Budapest Hungary

Department of Internal Medicine 1 Division of Hematology and Hemostaseology Medical University of Vienna Vienna Austria

Department of Molecular Medicine and Department of Hematology Oncology University of Pavia and Fondazione IRCCS Policlinico San Matteo Pavia Italy

Department of Oncology Hematology Hemostaseology and Stem Cell Transplantation University Hospital RWTH Aachen Aachen Germany

Dept Immunol Genetics and Pathology Uppsala University Hospital Uppsala University Uppsala Sweden

Division of Allergy and Clinical Immunology University of Salerno Salerno Italy

Division of Allergy Department of Dermatology University of Basel Basel Switzerland

Division of Hematology Department of Medicine Stanford University School of Medicine Stanford USA

Division of Hematology Istanbul Medical School University of Istanbul Istanbul Turkey

Division of Hematology Oncology Department of Medicine University of California San Francisco San Francisco USA

Faculty of Medicine and Health Sciences Department of Immunology Allergology Rheumatology University of Antwerp and Antwerp University Hospital Antwerpen Belgium

French Reference Center for Mastocytosis Hôpital Necker Assistance Publique Hôpitauxde Paris Imagine Institute University Paris Descartes Paris France

German Cancer Consortium Partner Site Freiburg Freiburg Germany

Institute of Environmental Health Medical University of Vienna Vienna Austria

Internal Medicine section Allergology University Medical Center Groningen University of Groningen Groningen The Netherlands

Laboratory of Hematology Pitié Salpêtrière Hospital Paris France

Ludwig Boltzmann Institute for Hematology and Oncology

Medical Clinic and Policlinic 1 Hematology and Cellular Therapy Leipzig University Hospital Germany

Pediatric Dermatology Unit Department of Medicine University of Padova Padova Italy

Section of Hematology Department of Medicine Verona University Hospital Verona Italy

University Clinic for Hematology and Oncology Kepler University Hospital Johannes Kepler University Linz Austria

University Hospital and CEITEC Masaryk University Brno Czech Republic

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$a In systemic mastocytosis (SM), the clinical features and survival vary greatly. Patient-related factors determining the outcome in SM are largely unknown. Methods: We examined the impact of sex on the clinical features, progression-free survival (PFS), and overall survival (OS) in 3403 patients with mastocytosis collected in the registry of the European Competence Network on Mastocytosis (ECNM). The impact of cytogenetic and molecular genetic aberrations on sex differences was analyzed in a subset of patients. Results: Of all patients enrolled, 55.3% were females. However, a male predominance was found in a subset of advanced SM (AdvSM) patients, namely SM with an associated hematologic neoplasm (SM-AHN, 70%; p < 0.001). Correspondingly, organomegaly (male: 23% vs. female: 13%, p = 0.007) was more, whereas skin involvement (male: 71% vs. female: 86%, p = 0.001) was less frequent in males. In all patients together, OS (p < 0.0001) was significantly inferior in males, and also within the WHO sub-categories indolent SM, aggressive SM (ASM) and SM-AHN. PFS was significantly (p = 0.0002) worse in males when all patients were grouped together; due to low numbers of events, this significance persisted only in the subcategory smoldering SM. Finally, prognostically relevant cytogenetic abnormalities (10% vs. 5%, p = 0.006) or molecular aberrations (SRSF2/ASXL1/RUNX1 profile; 63% vs. 40%, p = 0.003) were more frequently present in males. Conclusions: Male sex has a major impact on clinical features, disease progression, and survival in mastocytosis. Male patients have an inferior survival, which seems related to the fact that they more frequently develop a multi-mutated AdvSM associated with a high-risk molecular background.
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