We describe the case of a 34-year-old gentleman investigated for persistent neutropaenia following two episodes of pneumonia. Specialist investigations led to the diagnosis of multiple myeloma (MM) producing a truncated monoclonal γ3 heavy chain (HC) immunoglobulin molecule unattached to a light chain (LC) with atypical features for both MM and HC disease. Western blot showed γ3HC was truncated with a large deletion (75 kDa). Flow cytometry of the bone marrow aspirate revealed an unusual staining pattern. This plasma cell dyscrasia was also unusual in that a subpopulation (30%) secreted large quantities of free LC (FLC) as well as truncated IgG HC. This is the first description, investigation and treatment of MM with a plasma cell population producing truncated γ3HC and ĸFLC M-proteins and illustrates a number of unique immunological and clinical features.

Keywords:
Heavy chain disease, Immunoglobulins, Light chains, Multiple myeloma, Truncation in heavy chains
© 2010 S. Karger AG, Basel
2010
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