Whole exome sequencing of type II enteropathy-associated T-cell lymphoma

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Whole exome sequencing of type II enteropathy-associated T-cell lymphoma

 

Author: Tsang, Hin Fung
Title: Whole exome sequencing of type II enteropathy-associated T-cell lymphoma
Degree: M.Sc.
Year: 2016
Subject: Lymphomas.
Intestines -- Diseases.
Cancer -- Genetic aspects.
Hong Kong Polytechnic University -- Dissertations
Department: Dept. of Health Technology and Informatics
Pages: 67 pages : color illustrations
Language: English
InnoPac Record: http://library.polyu.edu.hk/record=b2925466
URI: http://theses.lib.polyu.edu.hk/handle/200/8718
Abstract: Enteropathy-associated T-cell Lymphoma (EATL) is a rare intestinal tumour of intra-epithelial T lymphocytes. If left untreated, it can cause death due to tumour progression combined with complications such as malnutrition, infections, uncontrolled gastrointestinal haemorrhage, peritonitis or thrombosis. Nowadays, there are no reliable prognostic factors and validated treatment for EATL due to its extreme rarity and difficulties in early diagnosis. Two subtypes of EATL are recognized currently, namely type I (classical) and type II. Classical type of EATL is strongly associated with celiac disease. It occurs with a high frequency in northern Europe. In Hong Kong, cases occurring in the Chinese population are mostly type II EATL. Type II EATL is a rare case of EATL. Different from type I (classical type) EATL, type II EATL shows no inflammatory background and necrosis. There is no association with celiac disease EBV infections. Lymphoma cells found in the tumour are mostly monomorphic small-sized or medium-sized. In terms of immunophenotype, tumour cells in type II EATL are CD3⁺, CD4⁺, CD5⁻, CD8⁺ and CD56⁺. Some diseases such as intestinal NK-like cytotoxic T-cell lymphomas show similar clinical, histologic and immunophenotypic features as type II EATL. Therefore, it is likely that some of the cases were misidentified due to inadequate sampling and failure in recognizing distinctive features.Through this study, we aim at identifying novel causal genetic variants of type II Enteropathy-associated T-cell lymphoma (EATL) and potential markers for genetic diagnosis of type II EATL using whole exome sequencing.

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