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TCRβ Clonality Improves Diagnostic Yield of TCRγ Clonality in Refractory Celiac Disease.
MedLine Citation:
PMID:  22298086     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
BACKGROUND:: Refractory celiac disease (RCD) is a preneoplastic condition as many patients develop an enteropathy-type T-cell lymphoma, a mature T-cell receptor α-β lymphoma arising in the gut with an ominous outcome. Recently, research focused on a population of intraepithelial intestinal lymphocytes expressing the same lymphoma T-cell receptor variable region (V)γ, as shown by polymerase chain reaction (PCR) analysis and sequencing. Meanwhile, the Biomedicine and Health-2 Concerted Action has made available standardized, highly specific, and sensitive PCR assays not only for Vγ but also for Vβ. GOALS:: We verified whether analyzing both rearrangements in duodenal biopsies from RCD patients increases the diagnostic accuracy of this method. STUDY:: Duodenal biopsies were analyzed from 15 RCD patients, 21 negative controls, and 2 positive controls (enteropathy-type T-cell lymphoma complicating celiac disease). Multiplex clonality analyses were performed according to the Biomedicine and Health-2 protocols. PCR products were cloned and sequenced. RESULTS:: Monoclonal rearrangements were found in 5/15 samples from patients with RCD (both rearrangements in 2 cases, Vβ only in 2, and only 1 solitary Vγ clonality). Monoclonality was found in 4/8 of the RCD patients who subsequently died, whereas only 1/7 of the patients still alive presented a monoclonal rearrangement. Positive controls revealed both monoclonal rearrangements; rearrangements were not detected in 20 of 21 negative controls. Sequencing of the amplified fragments confirmed the results. CONCLUSIONS:: The combined analysis of both rearrangements allowed recognition of monoclonal populations in otherwise negative patients, with detection rates from 20% (Vγ only) to 33% (Vγ and Vβ), thus raising the likelihood of early identification of RCD patients at high risk of death.
Authors:
Vittorio Perfetti; Laura Brunetti; Federico Biagi; Rachele Ciccocioppo; Paola I Bianchi; Gino R Corazza
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-1-30
Journal Detail:
Title:  Journal of clinical gastroenterology     Volume:  -     ISSN:  1539-2031     ISO Abbreviation:  -     Publication Date:  2012 Jan 
Date Detail:
Created Date:  2012-2-2     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7910017     Medline TA:  J Clin Gastroenterol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
*Coeliac Centre/First Department of Internal Medicine †Department of Medical Oncology, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy.
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