The prevalence of PLAG1 translocation, PLAG1 protein expression and clinical outcomes in pleomorphic adenoma of salivary gland and lacrimal gland in Hong Kong

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The prevalence of PLAG1 translocation, PLAG1 protein expression and clinical outcomes in pleomorphic adenoma of salivary gland and lacrimal gland in Hong Kong

 

Author: Wu, Chi Chung
Title: The prevalence of PLAG1 translocation, PLAG1 protein expression and clinical outcomes in pleomorphic adenoma of salivary gland and lacrimal gland in Hong Kong
Degree: M.Sc.
Year: 2014
Subject: Salivary glands -- Tumors -- Diagnosis.
Hong Kong Polytechnic University -- Dissertations
Department: Dept. of Health Technology and Informatics
Pages: ix, 87 leaves : color illustrations ; 30 cm
InnoPac Record: http://library.polyu.edu.hk/record=b2759016
URI: http://theses.lib.polyu.edu.hk/handle/200/7596
Abstract: Background. Pleomorphic adenoma (PA) is a benign tumor that commonly found in salivary gland. The diagnosis of PA maybe difficult due to the overlapping histological patterns of PA with other tumors. Specific genetic aberrations in PLAG1 and HMGA2 have been found in salivary gland PA. PLAG1 protein is usually overexpressed due to the fusion of those genes. The use of reverse transcription polymerase chain reaction (RT-PCR) and immunohistochemical staining (IHC) in formalin-fixed paraffin-embedded (FFPE) samples may be useful in the clinical diagnosis of PA. From the histological point of view, lacrimal gland can be considered as a modified minor salivary gland. Therefore, lacrimal gland and salivary gland PA may share the same genetic aberrations. In addition, the genetic aberrations may relate to the clinical outcomes. Methods. In this study, 43 salivary gland PA, 5 lacrimal gland PA and total of 20 other tumors and normal salivary gland tissues were analyzed. RT-PCR targeted on the gene translocation of CTNNB1-PLAG1, LIFR-PLAG1, CHCHD7-PLAG1 and TCEA1-PLAG1 were performed. The PLAG1 protein expression was detected using IHC staining. The clinical outcomes were related to the genetic aberrations, tumor size and resection margin. Results. 12 out of 43 cases of the salivary gland PA were identified with genetic aberrations which include 8 cases of CTNNB1-PLAG1 (18.6%), 3 cases of LIFR-PLAG1 (7%) and a case of CHCHD7-PLAG1 (2%). The frequency obtained was similar to the previous founding. No genetic aberration was found in the lacrimal gland PA. For IHC results, most of the PA in both glands showed positive staining with PLAG1 marker (95.8%). Apart from myoepithelioma all other tumors and normal tissues were negative. The clinical outcomes were unrelated with the genetic aberration, tumor size and the positive surgical margins. Conclusion. In the present study, 12 cases of salivary gland PA were identified with genetic aberrations. Lack of genetic aberration in lacrimal gland PA may indicate that it may have a different pathogenesis mechanism. The IHC results suggested that PLAG1 is a specific and sensitive marker for PA.

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