title: Systemic mastocytosis associated with essential thrombocythemia.
abstract: Mastocytosis comprises a spectrum of disorders characterized by abnormal growth of mast cells (MS). Four entities are recognizable according to WHO classification. Association of systemic mastocytosis (SM) with a chronic myeloproliferative neoplasia (SM-AHNMD) is the second frequently category. Published descriptions of the clinicopathologic features of SM-AHNMD are largely limited to individual case reports. We present the case of a 41-year-old woman with thrombocytosis and mild splenomegaly. Clinical suspicion was of chronic myeloproliferative neoplasia (CMN). Bone marrow trephine biopsy examination (histology and immunohistochemistry for CD117 and CD25) revealed a SM associated with CMN, essential thrombocythemia (ET) type. The JAK2 V617F (for CMN) was detected but KIT/Asp816Val (reported in ~80% of SM) was absent. We discussed the particularity of the cases correlated with a review of the literature.
authors.affiliation: Department of Hematology-Fundeni, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania. cameliadobrea@yahoo.com
authors.forename: Camelia
authors.initials: C
authors.lastname: Dobrea
authors.forename: M
authors.initials: M
authors.lastname: Ciochinaru
authors.forename: Amelia
authors.initials: A
authors.lastname: Găman
authors.forename: E
authors.initials: E
authors.lastname: Dănăilă
authors.forename: D
authors.initials: D
authors.lastname: Coriu
mesh_terms: D000328:Adult; D001856:Bone Marrow Examination / Q000379:methods; D019070:Cell Lineage; D049109:Cell Proliferation; D005260:Female; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D008407:Mast Cells / Q000166:cytology; D034721:Mastocytosis, Systemic / Q000150:complications / Q000175:diagnosis*; D009154:Mutation; D019009:Proto-Oncogene Proteins c-kit / Q000096:biosynthesis; D013163:Splenomegaly / Q000473:pathology; D013920:Thrombocythemia, Essential / Q000150:complications / Q000175:diagnosis*
chemical_list: D019009:Proto-Oncogene Proteins c-kit