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

Hematol Oncol. 2019 Apr;37(2):205-211. doi: 10.1002/hon.2605. Epub 2019 Apr 4.

Abstract

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.

Keywords: associated hematologic non-mast cell lineage disease; midostaurin; systemic mastocytosis.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Amino Acid Substitution
  • Hematologic Neoplasms* / genetics
  • Hematologic Neoplasms* / pathology
  • Hematologic Neoplasms* / therapy
  • Humans
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive* / genetics
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive* / pathology
  • Male
  • Mastocytosis, Systemic* / genetics
  • Mastocytosis, Systemic* / pathology
  • Mastocytosis, Systemic* / therapy
  • Mutation, Missense
  • Neoplasms, Second Primary* / genetics
  • Neoplasms, Second Primary* / pathology
  • Neoplasms, Second Primary* / therapy
  • Proto-Oncogene Proteins c-kit / genetics*

Substances

  • KIT protein, human
  • Proto-Oncogene Proteins c-kit