Vol 10, No 3 (2019)
Guidelines / Expert consensus
Published online: 2019-12-20

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Advanced systemic mastocytosis — experts’ statement on diagnostic and therapeutic approach

Grzegorz Helbig1, Tomasz Sacha2, Andrzej Mital3, Marek Hus4, Bożena Katarzyna Budziszewska5, Krystyna Gałązka6, Aneta Szudy-Szczyrek4, Marta Sobas7, Magdalena Zawada2, Karolina Chromik1
Hematologia 2019;10(3):113-123.


Systemic mastocytosis (SM) is characterized by clonal proliferation of abnormal mast cells and their accumulation in skin and/or other organs. The annual incidence of SM is between 5–10 new cases per million population and it usually occurs above 30 years of age. The diagnostic criteria include the detection of aggregates of mast cells in bone marrow, an increased serum tryptase level, the expression of CD25 on the mast cells and the presence of somatic mutation within the KITD816V. An advanced SM encompasses three variants with which hematologists should be familiar with 1) aggressive SM (ASM), 2) SM with an associated hematological neoplasm (SM-AHN) and 3) mast cell leukemia (MCL). Among them MCL has the worst prognosis with median survival of 2 months. The prognostic factors in SM include both clinical, laboratory and molecular parameters, but the latter are of special interest. The adverse prognosis is associated with the mutations within the genes: SRSF2, RUNX1 and ASXL1. The therapeutic approach independently from SM variant, should be aimed at avoidance of known triggers of mast cell activation and anti-mediator therapy as needed. Midostaurin with overall response rate of 60% should be the first-line choice when the symptoms of organ dysfunction occurs. The other treatments comprise cladribine and [peg]interferon alpha. The only curative therapy for SM is allogeneic stem cell transplantation. In this manuscript we present the current views on diagnostic and therapeutic approach for patients with this rare entity.

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Hematology in Clinical Practice