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Series GSE17715 Query DataSets for GSE17715
Status Public on Jun 17, 2010
Title Phenotypic and genomic analysis of an exceptional case of enteropathy associated T cell lymphoma
Organism Homo sapiens
Experiment type Genome variation profiling by array
Summary Approximately 2–5% of adult-onset coeliac disease (CD) patients develops refractory coeliac disease (RCD). In contrast to RCD type I, RCD type II is characterised by the presence of aberrant small intestinal intraepithelial T-lymphocytes (IEL) expressing cytoplasmic CD3 but lacking surface expression of CD3, CD4 and CD8. Development of Enteropathy Associated T-cell Lymphoma (EATL) is directly associated with the presence of >20% aberrant IEL in RCD II patients and has a very poor prognosis. We report on an exceptional case of EATL presenting as leukemic ascites and on the unique opportunity to perform extensive phenotypic and genomic analysis of this malignancy. Flow cytometric immunophenotyping of the ascitic EATL presentation showed CD30 expression typical for EATL and loss of the above mentioned surface markers similar to the aberrant IEL it originated from, as indicated by an identical monoclonal TCR-gamma rearrangement. In addition, expression of a substantial number of markers, including CD2, CD7, CD11a/CD18, CD52, CD103 and granzyme B was lost, which has not been reported sofar. Expression of proliferation markers Ki-67 en PCNA was clearly detected in the majority of EATL cells. Karyotype and comparative genomic hybridisation (CGH) analyses showed many genomic alterations, including chromosomal gains and losses up to 47Mb not previously reported for EATL. In conclusion, the current exceptional EATL presentation displays both immunophenotypic and genomic alterations not described previously and not included in the current WHO classifications of lymphoid malignancies.

Overall design Comparative genomic hybridisation (CGH) analyses of an exceptional case of enteropathy associated T cell lymphoma
Contributor(s) Tack G, Verbeek W, van de Water J, von Blomberg B, Bhola S, Ylstra B, Mulder C, Schreurs M
Citation(s) 20226524
Submission date Aug 19, 2009
Last update date Jan 17, 2013
Contact name Daoud Sie
Phone +31 20 4442428
Organization name Vrije Universiteit Medical Center
Department Pathology
Lab Microarray Core Facility
Street address De Boelelaan 1117
City Amsterdam
ZIP/Postal code 1081 HV
Country Netherlands
Platforms (1)
GPL8687 Agilent SurePrint G3 CGH array (4X180K) CCA_VUMC design AMADID#022522
Samples (1)
GSM442200 enteropathy associated T cell lymphoma
BioProject PRJNA118449

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Supplementary file Size Download File type/resource
GSE17715_RAW.tar 18.7 Mb (http)(custom) TAR (of TXT)
Processed data included within Sample table

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