CASE REPORT

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

K Sotlar¹, W Saeger², F Stellmacher³, J Stahmer⁴, S Jäckle⁴, P Valent⁵ and H-P Horny³

¹ Institute of Pathology, University of Tübingen, Tübingen, Germany
² Marienkrankenhaus Hamburg, Hamburg, Germany
³ Institute of Pathology, University of Lübeck, Lübeck, Germany
⁴ Clinic of Internal Medicine, Reinbek Hospital St Adolf, Reinbek, Germany
⁵ Department of Internal Medicine I (AKH), Division of Hematology and Hemostaseology, Medical University of Vienna, Vienna, Austria

Correspondence to:
Correspondence to:
Prof H-P Horny
Institute of Pathology, University of Lübeck, Ratzeburger Allee 160, D-23538 Lübeck, Germany; horny{at}patho.mu-luebeck.de

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/ 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.

Abbreviations: AHNMD, associated clonal haematological non-mast cell lineage disease; PNA, peptide nucleic acid; SM-AHNMD, systemic mastocytosis associated clonal haematological non-mast cell lineage disease

CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?