Systemic mastocytosis (SM) comprises a heterogeneous group of disorders characterized by infiltration of bone marrow and other tissues by neoplastic mast cells.
A subset of patients with SM has associated hematologic malignancy usually of myeloid origin and comprises an entity termed systemic mastocytosis with associated clonal hematological non-mast cell lineage disease (SM-AHNMD) by the current WHO classification.
In approximately 20 to 30% of patients with systemic mastocytosis (SM), an associated clonal hematological nonmast cell lineage disorder (AHNMD) is diagnosed. SM may be considered to be closely related to the myeloproliferative disorders (MPDs).
References
Systemic mastocytosis with associated clonal haematological non-mast cell lineage diseases: a histopathological challenge. Horny HP, Sotlar K, Sperr WR, Valent P. J Clin Pathol. 2004 Jun;57(6):604-8. PMID: 15166264
Systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease: analysis of clinicopathologic features and activating c-kit mutations. Pullarkat VA, Bueso-Ramos C, Lai R, Kroft S, Wilson CS, Pullarkat ST, Bu X, Thein M, Lee M, Brynes RK. Am J Hematol. 2003 May;73(1):12-7. PMID: 12701114
Detection of c-kit point mutation Asp-816 —> Val in microdissected pooled single mast cells and leukemic cells in a patient with systemic mastocytosis and concomitant chronic myelomonocytic leukemia. Sotlar K, Fridrich C, Mall A, Jaussi R, Bültmann B, Valent P, Horny HP. Leuk Res. 2002 Nov;26(11):979-84. PMID: 12363464
Myelomastocytic overlap syndromes: biology, criteria, and relationship to mastocytosis. Valent P, Sperr WR, Samorapoompichit P, Geissler K, Lechner K, Horny HP, Bennett JM. Leuk Res. 2001 Jul;25(7):595-602. PMID: 11377685