Gamma heavy-chain disease: defining the spectrum of associated lymphoproliferative disorders through analysis of 13 cases. Am J Surg Pathol 2012 Apr;36(4):534-43
Date
02/04/2012Pubmed ID
22301495Pubmed Central ID
PMC3715127DOI
10.1097/PAS.0b013e318240590aScopus ID
2-s2.0-84859099220 (requires institutional sign-in at Scopus site) 32 CitationsAbstract
Gamma heavy-chain disease (gHCD) is defined as a lymphoplasmacytic neoplasm that produces an abnormally truncated immunoglobulin gamma heavy-chain protein that lacks associated light chains. There is scant information in the literature regarding the morphologic findings in this rare disorder, but cases have often been reported to resemble lymphoplasmacytic lymphoma (LPL). To clarify the spectrum of lymphoproliferative disorders that may be associated with gHCD, this study reports the clinical, morphologic, and phenotypic findings in 13 cases of gHCD involving lymph nodes (n=7), spleen (n=2), bone marrow (n=8), or other extranodal tissue biopsies (n=3). Clinically, patients showed a female predominance (85%) with frequent occurrence of autoimmune disease (69%). Histologically, 8 cases (61%) contained a morphologically similar neoplasm of small lymphocytes, plasmacytoid lymphocytes, and plasma cells that was difficult to classify with certainty, whereas the remaining 5 cases (39%) showed the typical features of one of several other well-defined entities in the 2008 WHO classification. This report demonstrates that gHCD is associated with a variety of underlying lymphoproliferative disorders but most often shows features that overlap with cases previously reported as "vaguely nodular, polymorphous" LPL. These findings also provide practical guidance for the routine evaluation of small B-cell neoplasms with plasmacytic differentiation that could represent a heavy-chain disease and give suggestions for an improved approach to the WHO classification of gHCD.
Author List
Bieliauskas S, Tubbs RR, Bacon CM, Eshoa C, Foucar K, Gibson SE, Kroft SH, Sohani AR, Swerdlow SH, Cook JRAuthor
Steven Howard Kroft MD Chair, Professor in the Pathology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdultAged
Autoimmune Diseases
Biomarkers, Tumor
Clone Cells
Comorbidity
Cytogenetic Analysis
Female
Heavy Chain Disease
Humans
Immunoglobulin gamma-Chains
Immunophenotyping
In Situ Hybridization, Fluorescence
Lymphocytes
Lymphoid Tissue
Lymphoma, B-Cell
Male
Middle Aged
Plasma Cells
Sex Factors
United Kingdom
United States
Waldenstrom Macroglobulinemia
