"Occult" mastocytosis with activating c-kit point mutation evolving into systemic mastocytosis associated with plasma cell myeloma and secondary amyloidosis

J Clin Pathol. 2006 Aug;59(8):875-8. doi: 10.1136/jcp.2005.028837.

Abstract

A case of a 70-year-old man presenting with exsudative enteropathy due to light-chain-associated amyloidosis is reported. The diagnosis of systemic mastocytosis associated with IgG/lambda plasma cell myeloma and secondary generalised amyloidosis was carried out by morphological evaluation of bone marrow biopsy. The c-kit point mutation D816Y was detected by molecular analysis. Two years before, a cystadenolymphoma of the left parotid gland had been removed. A moderate increase of loosely scattered spindle-shaped mast cells, a subpopulation of them expressing CD25, an antigen that is not expressed by normal or reactive mast cells, was shown by retrospective analysis carried out on an intraparotideal lymph node. The c-kit mutation D816Y was shown by the molecular analysis of the lymph node. In summary, the notion that systemic mastocytosis may very rarely be associated with B cell neoplasms and that neoplastic mast cell infiltrates may be obscured because of only a minimal increase of atypical mast cells, which are outnumbered by other non-neoplastic cells in the same tissue, is supported by this case. This finding was preliminarily termed "occult" mastocytosis.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Amyloidosis / etiology*
  • Amyloidosis / pathology
  • Disease Progression
  • Humans
  • Intestinal Diseases / etiology
  • Intestinal Diseases / pathology
  • Male
  • Mastocytosis / complications
  • Mastocytosis / genetics*
  • Mastocytosis, Systemic / complications
  • Mastocytosis, Systemic / genetics
  • Multiple Myeloma / complications*
  • Point Mutation*
  • Proto-Oncogene Proteins c-kit / genetics*

Substances

  • Proto-Oncogene Proteins c-kit