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The Efficacy of Molecular Analysis in the Diagnosis of Bone and Soft Tissue Sarcoma: A 15-Year Mono-Institutional Study.
- Source :
- International Journal of Molecular Sciences; Jan2023, Vol. 24 Issue 1, p632, 14p
- Publication Year :
- 2023
-
Abstract
- The histological diagnosis of sarcoma can be difficult as it sometimes requires the combination of morphological and immunophenotypic analyses with molecular tests. A total of 2705 tissue samples of sarcoma consecutively collected from 2006 until 2020 that had undergone molecular analysis were assessed to evaluate their diagnostic utility compared with histological assessments. A total of 3051 molecular analyses were performed, including 1484 gene fusions tested by c/qRT–PCR, 992 gene rearrangements analysed by FISH, 433 analyses of the gene status of MDM2, 126 mutational analyses and 16 NGS analysis. Of the samples analysed, 68% were from formalin-fixed, paraffin-embedded tissue and 32% were from frozen tissue. C/qRT–PCR and FISH analyses were conclusive on formalin-fixed, paraffin-embedded tissue in 74% and 76% of samples, respectively, but the combination of the two methods gave us conclusive results in 96% and 89% of frozen and formalin-fixed, paraffin-embedded tissues, respectively. We demonstrate the utility of c/qRT–PCR and FISH for sarcoma diagnosis and that each has advantages in specific contexts. We conclude that it is possible to accurately predict the sarcoma subtype using a panel of different subtype-specific FISH probes and c/qRT–PCR assays, thereby greatly facilitating the differential diagnosis of these tumours. [ABSTRACT FROM AUTHOR]
- Subjects :
- SARCOMA
MOLECULAR diagnosis
CANCER diagnosis
GENE rearrangement
GENE fusion
Subjects
Details
- Language :
- English
- ISSN :
- 16616596
- Volume :
- 24
- Issue :
- 1
- Database :
- Complementary Index
- Journal :
- International Journal of Molecular Sciences
- Publication Type :
- Academic Journal
- Accession number :
- 161185448
- Full Text :
- https://doi.org/10.3390/ijms24010632