Detection of SYT-SSX mutant transcripts in formalin-fixed paraffin-embedded sarcoma tissues using one-step reverse transcriptase real-time PCR

Background: Synovial sarcoma (SS) is a rare cancer and accounts for 5-10% of adult soft tissue sarcomas. Making an accurate diagnosis is difficult due to the overlapping histological features of SS with other types of sarcomas and the non-specific immunohistochemistry profile findings. Molecular...

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Main Authors: A.Talib, Norlelawati, Goon, Mohd Danial, Harun, Nora, Othman, Nadia, Kamaruzaman, Zatur Rawihah, Abdullah, Nor Zamzila, Muhammad, Siti Aesah @ Naznin
Format: Article
Language:English
English
Published: College of Pathologists, Academy of Medicine Malaysia 2016
Subjects:
Online Access:http://irep.iium.edu.my/50533/
http://irep.iium.edu.my/50533/
http://irep.iium.edu.my/50533/1/detection-of-SYT-SSX.pdf
http://irep.iium.edu.my/50533/4/50533_Detection_of_SYT-SSX_mutant_transcripts_in_formalin-fixed_SCOPUS.pdf
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spelling iium-505332018-02-25T09:20:02Z http://irep.iium.edu.my/50533/ Detection of SYT-SSX mutant transcripts in formalin-fixed paraffin-embedded sarcoma tissues using one-step reverse transcriptase real-time PCR A.Talib, Norlelawati Goon, Mohd Danial Harun, Nora Othman, Nadia Kamaruzaman, Zatur Rawihah Abdullah, Nor Zamzila Muhammad, Siti Aesah @ Naznin RB Pathology Background: Synovial sarcoma (SS) is a rare cancer and accounts for 5-10% of adult soft tissue sarcomas. Making an accurate diagnosis is difficult due to the overlapping histological features of SS with other types of sarcomas and the non-specific immunohistochemistry profile findings. Molecular testing is thus considered necessary to confirm the diagnosis since more than 90% of SS cases carry the transcript of t(X;18)(p11.2;q11.2). The purpose of this study is to diagnose SS at molecular level by testing for t(X;18) fusion-transcript expression through One-step reverse transcriptase real-time Polymerase Chain Reaction (PCR). Method: Formalin-fixed paraffin-embedded tissue blocks of 23 cases of soft tissue sarcomas, which included 5 and 8 cases reported as SS as the primary diagnosis and differential diagnosis respectively, were retrieved from the Department of Pathology, Tengku Ampuan Afzan Hospital, Kuantan, Pahang. RNA was purified from the tissue block sections and then subjected to One-step reverse transcriptase real-time PCR using sequence specific hydrolysis probes for simultaneous detection of either SYT-SSX1 or SYT-SSX2 fusion transcript. Results: Of the 23 cases, 4 cases were found to be positive for SYT-SSX fusion transcript in which 2 were diagnosed as SS whereas in the 2 other cases, SS was the differential diagnosis. Three cases were excluded due to failure of both amplification assays SYT-SSX and control β-2-microglobulin. The remaining 16 cases were negative for the fusion transcript. Conclusion: This study has shown that the application of One-Step reverse transcriptase real time PCR for the detection SYT-SSX transcript is feasible as an aid in confirming the diagnosis of synovial sarcoma. College of Pathologists, Academy of Medicine Malaysia 2016-04 Article PeerReviewed application/pdf en http://irep.iium.edu.my/50533/1/detection-of-SYT-SSX.pdf application/pdf en http://irep.iium.edu.my/50533/4/50533_Detection_of_SYT-SSX_mutant_transcripts_in_formalin-fixed_SCOPUS.pdf A.Talib, Norlelawati and Goon, Mohd Danial and Harun, Nora and Othman, Nadia and Kamaruzaman, Zatur Rawihah and Abdullah, Nor Zamzila and Muhammad, Siti Aesah @ Naznin (2016) Detection of SYT-SSX mutant transcripts in formalin-fixed paraffin-embedded sarcoma tissues using one-step reverse transcriptase real-time PCR. The Malaysian Journal of Pathology, 38 (1). pp. 11-18. ISSN 0126-8635 http://www.mjpath.org.my/2016/v38n1/detection-of-SYT-SSX.pdf
repository_type Digital Repository
institution_category Local University
institution International Islamic University Malaysia
building IIUM Repository
collection Online Access
language English
English
topic RB Pathology
spellingShingle RB Pathology
A.Talib, Norlelawati
Goon, Mohd Danial
Harun, Nora
Othman, Nadia
Kamaruzaman, Zatur Rawihah
Abdullah, Nor Zamzila
Muhammad, Siti Aesah @ Naznin
Detection of SYT-SSX mutant transcripts in formalin-fixed paraffin-embedded sarcoma tissues using one-step reverse transcriptase real-time PCR
description Background: Synovial sarcoma (SS) is a rare cancer and accounts for 5-10% of adult soft tissue sarcomas. Making an accurate diagnosis is difficult due to the overlapping histological features of SS with other types of sarcomas and the non-specific immunohistochemistry profile findings. Molecular testing is thus considered necessary to confirm the diagnosis since more than 90% of SS cases carry the transcript of t(X;18)(p11.2;q11.2). The purpose of this study is to diagnose SS at molecular level by testing for t(X;18) fusion-transcript expression through One-step reverse transcriptase real-time Polymerase Chain Reaction (PCR). Method: Formalin-fixed paraffin-embedded tissue blocks of 23 cases of soft tissue sarcomas, which included 5 and 8 cases reported as SS as the primary diagnosis and differential diagnosis respectively, were retrieved from the Department of Pathology, Tengku Ampuan Afzan Hospital, Kuantan, Pahang. RNA was purified from the tissue block sections and then subjected to One-step reverse transcriptase real-time PCR using sequence specific hydrolysis probes for simultaneous detection of either SYT-SSX1 or SYT-SSX2 fusion transcript. Results: Of the 23 cases, 4 cases were found to be positive for SYT-SSX fusion transcript in which 2 were diagnosed as SS whereas in the 2 other cases, SS was the differential diagnosis. Three cases were excluded due to failure of both amplification assays SYT-SSX and control β-2-microglobulin. The remaining 16 cases were negative for the fusion transcript. Conclusion: This study has shown that the application of One-Step reverse transcriptase real time PCR for the detection SYT-SSX transcript is feasible as an aid in confirming the diagnosis of synovial sarcoma.
format Article
author A.Talib, Norlelawati
Goon, Mohd Danial
Harun, Nora
Othman, Nadia
Kamaruzaman, Zatur Rawihah
Abdullah, Nor Zamzila
Muhammad, Siti Aesah @ Naznin
author_facet A.Talib, Norlelawati
Goon, Mohd Danial
Harun, Nora
Othman, Nadia
Kamaruzaman, Zatur Rawihah
Abdullah, Nor Zamzila
Muhammad, Siti Aesah @ Naznin
author_sort A.Talib, Norlelawati
title Detection of SYT-SSX mutant transcripts in formalin-fixed paraffin-embedded sarcoma tissues using one-step reverse transcriptase real-time PCR
title_short Detection of SYT-SSX mutant transcripts in formalin-fixed paraffin-embedded sarcoma tissues using one-step reverse transcriptase real-time PCR
title_full Detection of SYT-SSX mutant transcripts in formalin-fixed paraffin-embedded sarcoma tissues using one-step reverse transcriptase real-time PCR
title_fullStr Detection of SYT-SSX mutant transcripts in formalin-fixed paraffin-embedded sarcoma tissues using one-step reverse transcriptase real-time PCR
title_full_unstemmed Detection of SYT-SSX mutant transcripts in formalin-fixed paraffin-embedded sarcoma tissues using one-step reverse transcriptase real-time PCR
title_sort detection of syt-ssx mutant transcripts in formalin-fixed paraffin-embedded sarcoma tissues using one-step reverse transcriptase real-time pcr
publisher College of Pathologists, Academy of Medicine Malaysia
publishDate 2016
url http://irep.iium.edu.my/50533/
http://irep.iium.edu.my/50533/
http://irep.iium.edu.my/50533/1/detection-of-SYT-SSX.pdf
http://irep.iium.edu.my/50533/4/50533_Detection_of_SYT-SSX_mutant_transcripts_in_formalin-fixed_SCOPUS.pdf
first_indexed 2023-09-18T21:11:25Z
last_indexed 2023-09-18T21:11:25Z
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