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

Kluin-Nelemans, Hanneke C. and Jawhar, Mohamad and Reiter, Andreas and van Anrooij, Bjorn and Gotlib, Jason and Hartmann, Karin and Illerhaus, Anja and Oude Elberink, Hanneke N. G. and Gorska, Aleksandra and Niedoszytko, Marek and Lange, Magdalena and Scaffidi, Luigi and Zanotti, Roberta and Bonadonna, Patrizia and Perkins, Cecelia and Elena, Chiara and Malcovati, Luca and Shoumariyeh, Khalid and von Bubnoff, Nikolas and Müller, Sabine and Triggiani, Massimo and Parente, Roberta and Schwaab, Juliana and Kundi, Michael and Fortina, Anna Belloni and Caroppo, Francesca and Brockow, Knut and Zink, Alexander and Fuchs, David and Angelova-Fischer, Irena and Yavuz, Akif Selim and Doubek, Michael and Mattsson, Mattias and Hagglund, Hans and Panse, Jens and Simonowski, Anne and Sabato, Vito and Schug, Tanja and Jentzsch, Madlen and Breynaert, Christine and Várkonyi, Judit and Kennedy, Vanessa and Hermine, Olivier and Rossignol, Julien and Arock, Michel and Valent, Peter and Sperr, Wolfgang R.. (2021) Cytogenetic and molecular aberrations and worse outcome for male patients in systemic mastocytosis. Theranostics, 11 (1). pp. 292-303.

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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.
Faculties and Departments:03 Faculty of Medicine > Bereich Spezialfächer (Klinik) > Dermatologie USB > Allergologie (Hartmann)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Spezialfächer (Klinik) > Dermatologie USB > Allergologie (Hartmann)
03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Allergy and Immunity (Hartmann)
UniBasel Contributors:Hartmann, Karin
Item Type:Article, refereed
Article Subtype:Research Article
Publisher:Ivyspring International Publisher
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:26 Apr 2023 09:18
Deposited On:27 Jan 2022 14:18

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