TFE3, a novel diagnostic marker for solid pseudopapillary tumor of pancreas

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TFE3, a novel diagnostic marker for solid pseudopapillary tumor of pancreas


Author: Chan, San Sheung
Title: TFE3, a novel diagnostic marker for solid pseudopapillary tumor of pancreas
Degree: M.Sc.
Year: 2014
Subject: Pancreas -- Tumors -- Diagnosis.
Genetic markers
Hong Kong Polytechnic University -- Dissertations
Department: Dept. of Health Technology and Informatics
Pages: xii, 71 leaves : color illustrations ; 30 cm
InnoPac Record:
Abstract: Solid pseudopapillary tumor of pancreas (SPN) is an uncommon low grade malignant neoplasm mainly affecting young female patients. Its etiology and pathogenesis are still not fully known. The morphology of SPN is similar to some other pancreatic neoplasms such some pancreatic ductal adenocarcinoma (PDAC) and islet cell tumor (ICT). This causes difficulty in their differential diagnosis. Transcription factor for immunoglobulin heavy chain enhancer 3 (TFE3) is a transcription factor belonging to the helix-loop-helix family. Its gene is located on the short arm of chromosome X with the notation of Xp11.2. Its function is diverse including activation of glycogen and protein synthesis, cell growth, cell differentiation and T-cell-dependent antibody responses. Clinically, TFE3 translocation is found in certain types of neoplasm. They are Renal Xp11 translocation carcinoma (Xp11RCC), alveolar soft part sarcoma, perivascular epithelioid cell tumor (PEComa), and epithelioid hemangioendothelioma. The involved fusion partner genes include PRCC gene, CLTC gene, PSF gene, ASPSCR1 gene, NONO gene and YAP1 gene. We noticed that there is some morphology resemblance of SPN to TFE3 associated renal cell carcinoma. We then performed a retrospective study on 19 archived FFPE samples of SPN (n=9), ICT (n=5) and PDAC (n=5). In this study, immunohistochemistry (IHC) and RT-PCR were used to detect the expression of TFE3 and compared the results with the clinicopathological features. The fluorescence in situ hybridization (FISH) with dual colour break apart probe was used to detect translocation. From the results, the morphology features in Xp11RCC, namely rosette structure with hyalinized stromal core were identified in the H&E of the SPN cases. In IHC part, most SPN cases (~78%) scored positive (nuclear staining), whereas all ICT and PDAC cases scored negative. But, there were no break apart signal in FISH was detected for those SPN cases. For RT-PCR, we compared TFE3 mRNA expression in SPN and their respective normal pancreatic tissue. Only five cases were successful while others did not give any result due to not enough tissue samples. Although 4 cases showed slightly increase, the number of case were too small for any statistical analysis. In conclude, this study demonstrated the overexpression of TFE3 in SPN by IHC. There was no correlation between this with the clinicopathological features. Also, no translocation was detected for that overexpression. This suggested other mutation or mechanism is involved. On the other hand, ICT and PDAC showed negative in TFE3 IHC. This can aid the differential diagnosis between them with SPN. Moreover, the overexpression of TFE3 indicated that it is an important factor in the pathogenesis of SPN, and, it may be a potential therapeutic target.

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