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

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

*Corresponding author for this work


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.

Original languageEnglish
Issue number1
Pages (from-to)292-303
Number of pages12
Publication statusPublished - 2020


Dive into the research topics of 'Cytogenetic and molecular aberrations and worse outcome for male patients in systemic mastocytosis'. Together they form a unique fingerprint.

Cite this