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A case report of systemic mastocytosis associated with multiple hematologic non-mast cell lineage diseases

Federica Irene Grifoni, Mariarita Sciumè, Valerio Pravettoni, Fabio Massimo Ulivieri, Simona Muratori, Nicola Stefano Fracchiolla, Elena Tagliaferri, Umberto Gianelli, Anna Chiara Migliorini, Lilla Cro, Annalisa Pacilli, Francesco Mannelli, Luca Baldini
Hematological Oncology 2019, 37 (2): 205-211
30849188
Systemic mastocytosis (SM) is a hematological malignancy characterized by extracutaneous infiltration by atypical mast cells. Together with indolent SM, aggressive SM, and mast cell leukemia, the World Health Organization (WHO) recognizes another major disease subgroup: SM with an associated hematological neoplasm, which is characterized by the presence of a concurrent neoplasm, more commonly, a chronic myelomonocytic leukemia. While KIT D816V is commonly regarded as the driver mutation, the clinical presentation of SM is extremely varied. Treatment of SM might not be simple, but now more specific therapies tailored toward prognostic subgroups of patients have been developed. Here, we report a detailed description of clinical management and biological features of a systemic mastocytocis case associated with multiple hematologic non-mast cell lineage diseases.

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