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Lymphoma - B cell neoplasms

Plasma cell neoplasms

Heavy chain disease


Reviewer: Nikhil Sangle, M.D., University of Utah and ARUP Laboratories (see Reviewers page)
Revised: 16 March 2011, last major update March 2011
Copyright: (c) 2001-2011, PathologyOutlines.com, Inc.

Definition
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● Rare malignant disorders (100 cases reported) with secretion of IgH fragments (not complete immunoglobulin)

Clinical features
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● IgM (mu) resembles CLL
● IgG (gamma) resembles lymphoplasmacytic lymphoma
● IgA (alpha) resembles Mediterranean lymphoma; is also called Immunoproliferative small intestinal disease (IPSID)
● IPSID is the most common type, mu heavy chain disease least common
● 25% are associated with autoimmune diseases

Laboratory
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● Localized band in beta1 or beta2 regions in 60% without corresponding light chain
● 40% have no detectable abnormality by serum electrophoresis; immunofixation electrophoresis (IFE) is essential to detect aberrant heavy chain

Mu heavy chain disease: differs from CLL in the high frequency of hepatosplenomegaly and absence of peripheral lymphadenopathy; has mixture of plasma cells and B-lymphocytes with monoclonal cytoplasmic mu heavy chain
Gamma heavy chain disease: median age 60 yrs; lymph nodes are commonly involved, show polymorphous population of lymphocytes, plasma cells, plasmacytoid lymphocytes, eosinophils, histiocytes and immunoblasts; B-cell immunophenotype with monoclonal cytoplasmic gamma chain without light chains; variable prognosis
IPSID: affects young adults of Mediterranean origin; associated with Campylobacter jejuni; patients present with malabsorption, wasting, diarrhea, abdominal pain, hypocalcemia; lamina propria of small intestine is infiltrated with plasma cells and lymphocytes; may show lymphoepithelial lesions; composed of B cells with monoclonal cytoplasmic alpha chain without light chain; favorable response to anthracycline-containing regimens; may progress to diffuse large B cell lymphoma

Case reports
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● 48 year old woman with Hodgkin lymphoma and gamma heavy-chain disease (Arch Pathol Lab Med 2001;125:803)
● 59 year old woman with immunotactoid glomerulopathy, follicular lymphoma and gamma heavy-chain disease (Arch Pathol Lab Med 2004;128:689)

Micro images
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With lymphocyte predominant Hodgkin lymphoma


Gel of heavy chain disease

Molecular description
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● Immunoglobulin heavy chain genes are clonally rearranged, with somatic hypermutation
● Deletions in heavy chain gene result in defective heavy chain protein that cannot bind to light chain to form complete Ig molecule

Additional references
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Hematol Oncol Clin North Am 1999;13:1281, Best Pract Res Clin Haematol 2005;18:729, Curr Treat Options Oncol 2002;3:247

End of Lymphoma - B cell neoplasms > Plasma cell neoplasms > Heavy chain disease


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