Systemic mastocytosis associated with essential thrombocythemia

Rom J Morphol Embryol. 2012;53(1):197-202.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bone Marrow Examination / methods
  • Cell Lineage
  • Cell Proliferation
  • Female
  • Humans
  • Immunohistochemistry / methods
  • Mast Cells / cytology
  • Mastocytosis, Systemic / complications
  • Mastocytosis, Systemic / diagnosis*
  • Mutation
  • Proto-Oncogene Proteins c-kit / biosynthesis
  • Splenomegaly / pathology
  • Thrombocythemia, Essential / complications
  • Thrombocythemia, Essential / diagnosis*

Substances

  • Proto-Oncogene Proteins c-kit