Anna Belloni Fortina, Khalid Shoumariyeh, Aleksandra Górska, Hans Hägglund, Oleksii Solomianyi, Francesca Caroppo, Andreas Reiter, Michel Arock, Bjorn van Anrooij, Peter Valent, Akif Selim Yavuz, Cecelia Perkins, Jason Gotlib, Cornelius Miething, Alexander Zink, Massimiliano Bonifacio, William Shomali, Christine Breynaert, Julien Rossignol, Mohamad Jawhar, Chiara Elena, Michael Doubek, Marek Niedoszytko, Sabine Müller, Jens Panse, Wolfgang R. Sperr, Luca Malcovati, Emir Hadzijusufovic, Vladan Vucinic, Vito Sabato, Judit Várkonyi, Patrizia Bonadonna, Massimo Triggiani, Anja Illerhaus, Luigi Scaffidi, Roberta Parente, Roberta Zanotti, Friederike Wortmann, Hanneke Oude Elberink, Hanneke C. Kluin-Nelemans, Magdalena Lange, Mattias Mattsson, Karin Hartmann, Olivier Hermine, Irena Angelova-Fischer, Tanja Schug, Knut Brockow, Giuseppe Lucchini, and Groningen Research Institute for Asthma and COPD (GRIAC)
In the current classification of the World Health Organization (WHO), bone marrow mastocytosis (BMM) is a provisional variant of indolent systemic mastocytosis (ISM) defined by bone marrow involvement and absence of skin lesions. However, no additional diagnostic criteria for BMM have been proposed. Within the registry dataset of the European Competence Network on Mastocytosis, we compared characteristics and outcomes of 390 patients with BMM and 1175 patients with typical ISM. BMM patients were significantly older, predominantly male, had lower tryptase and lower burden of neoplastic mast cells, and displayed a higher frequency of allergic reactions, mainly triggered by Hymenoptera, than patients with typical ISM. The estimated 10-year progression-free survival of BMM and typical ISM was 95.9% and 92.6%, respectively. In BMM patients defined by WHO-based criteria, the presence of one B-Finding and tryptase level ≥125 ng/mL were identified as risk factors for progression in multivariate analyses. BMM patients without any of these risk factors were found to have better progression-free survival (p < 0.05) and better overall survival (p < 0.05) than other ISM patients. These data support the proposal to define BMM as a separate SM variant characterized by SM criteria, absence of skin lesions, absence of B-Findings, and tryptase levels