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Blood, 15 February 2002, Vol. 99, No. 4, pp. 1492-1494

BRIEF REPORT

Germline FAS gene mutation in a case of ALPS and NLP Hodgkin lymphoma

Anke van den Berg, Ewerton Maggio, Arjan Diepstra, Debora de Jong, Johan van Krieken, and Sibrand Poppema

From the Department of Pathology and Laboratory Medicine, University Hospital Groningen, The Netherlands; and the Department of Pathology, University Medical Center, Nijmegen, The Netherlands.

FAS germline mutations have been associated with the development of autoimmune lymphoproliferative syndrome (ALPS). Occurrence of Hodgkin lymphoma (HL) has been reported in 2 families with ALPS. In both families an uncle of the index patient developed HL. A 15-year-old boy with autoimmune thrombopenia, lymphadenopathy, and splenomegaly for 6 years was studied. In an axillary lymph node biopsy nodular lymphocyte predominant (NLP) HL was diagnosed; in the areas between the nodules a proliferation of double-negative blastic T cells were present, suggestive of ALPS. Analysis for the presence of a FAS gene mutation using the denaturing gradient gel electrophoresis technique indicated a mutation in exon 9. Direct sequence analysis revealed a mutation causing a substitution of arginine with glutamine at codon 234. Because ALPS and NLP HL are both highly infrequent conditions, the occurrence in at least 3 families suggests a causative relationship between germline FAS gene mutations and NLP HL.

© 2002 by The American Society of Hematology.
 

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