Comparison between Fluorescence in-situ Hybridization (FISH), Reverse Transcriptase PCR (RT-PCR) and fragment analysis, for detection of t (X; 18) (p11; q11) translocation in synovial sarcomas
Autor: | Omshree Shetty, Trupti Pai, Mamta Gurav, Bharat Rekhi |
---|---|
Rok vydání: | 2020 |
Předmět: |
0301 basic medicine
Microbiology (medical) Chromosomal translocation 030105 genetics & heredity Sensitivity and Specificity Translocation Genetic Pathology and Forensic Medicine Sarcoma Synovial 03 medical and health sciences 0302 clinical medicine Biomarkers Tumor medicine Electronic Health Records Humans In Situ Hybridization Fluorescence Paraffin Embedding medicine.diagnostic_test Reverse Transcriptase Polymerase Chain Reaction Chemistry Soft tissue sarcoma General Medicine Gene rearrangement medicine.disease Immunohistochemistry Molecular biology Synovial sarcoma Reverse transcription polymerase chain reaction Real-time polymerase chain reaction 030217 neurology & neurosurgery Immunostaining Fluorescence in situ hybridization |
Zdroj: | Indian Journal of Pathology and Microbiology. 63:64 |
ISSN: | 0377-4929 |
Popis: | Background: Synovial sarcoma (SS) is an aggressive, but a relatively chemosensitive soft tissue sarcoma, characterized by a specific, t (X;18)(p11;q11) translocation, leading to formation of SS18–SSX chimeric transcript. This translocation can be detected by various techniques, such as fluorescence in-situ hybridization (FISH), reverse transcriptase PCR (RT-PCR) and fragment analysis. Objectives: To compare the results of detection of t (X;18)(p11;q11) translocation, across three different platforms, in order to determine the most optimal and sensitive technique. Methods: Formalin-fixed paraffin embedded (FFPE) tissue sections of 45 soft tissue sarcomas were analyzed, including 16 cases of SS confirmed by histopathology, immunohistochemistry and molecular technique (s)(Group 1); 13 cases, wherein SS was one of the differential diagnosis, preceding molecular testing (Group 2) and 16 cases of various other sarcomas (Group 3). Various immunohistochemical (IHC) markers studied, including INI1/SMARCB1. All cases were tested for t (X;18) translocation, by fragment Analysis, FISH and RT-PCR. Results: There were 23 cases of SS, including 16 of group 1 and 7 of group 2. By fragment analysis, t (X;18)(p11;q11) translocation was detected in 22/23 cases (95.6%). By FISH, SS18 gene rearrangement was detected in 18/22 cases (78.2%), whereas by RT-PCR, SS18-SSX transcripts were detected in 15/23 cases (65.2%). Immunohistochemically, a unique “weak to absent”/reduced INI1 immunostaining pattern was exclusively observed in 12/13 cases of SS (92.3%). Fragment analysis and FISH were relatively more sensitive techniques. Unique “weak to absent”INI1 immunoexpression significantly correlated with positive t (X;18) translocation results (P = 0.0001). Conclusion: The present study constitutes first such study from our subcontinent. Fragment analysis is a promising technique for detection of t (X;18)(p11;q11) translocation. FISH and INI1 immunostaining pattern were also relatively more sensitive, over RT-PCR. |
Databáze: | OpenAIRE |
Externí odkaz: |