Key result
Molecular analysis was useful in 4% to 31% and necessary in <1% to 12% of suspected sarcomas depending on the genetic lesion, demonstrating its significant impact on final diagnosis.
Why the study?
Does molecular analysis improve the diagnostic certainty of soft tissue and visceral sarcomas compared to premolecular diagnosis?
Observational (n=1,484)
Yes
Does molecular analysis improve the diagnostic certainty of soft tissue and visceral sarcomas compared to premolecular diagnosis?
Molecular analysis significantly impacts the final diagnosis of sarcomas, particularly for tumors with suspected translocations or ALT/WDLPS-DDLPS, supporting its use when diagnosis is uncertain.
Supports selective molecular testing in uncertain sarcomas; extends Level 3 pathology data but leaves open prospective validation.
Sarcomas are rare, heterogenous, and often difficult to classify. A large proportion of sarcomas are associated with specific molecular genetic lesions such as translocations, mutations, and amplifications, which are helpful in the diagnosis of individual cases. However, the exact impact of molecular genetics on the final diagnosis of sarcomas is unknown. In this study, all soft tissue and visceral sarcomas arising in patients living in 3 European regions in 2 countries (representing 13 million inhabitants) were collected and reviewed during 2 consecutive years. A molecular analysis was performed for all suspicions of sarcomas with specific genetic lesions [mutations of KIT/PDGFRA in gastrointestinal stromal tumors (GISTs), reciprocal translocation, or amplification of MDM2 in atypical lipomatous tumors, well-differentiated liposarcoma-dedifferentiated liposarcoma (ALT/WDLPS-DDLPS)]. To evaluate the impact of molecular tests, a premolecular analysis diagnosis was proposed with 3 categories of certainty: certain, probable, or possible. A molecular analysis was performed in 763/1484 tumors corresponding to 295 cases in which GIST was suspected, 248 sarcomas with a suspicion of translocation, and 220 cases in which ALT/WDLPS-DDLPS was suspected. Molecular analysis was found to be useful (confirms a probable diagnosis) in 11 (4%) GISTs, 62 (26%) suspicions of translocation, and 66 (31%) suspicions of ALT/WDLPS-DDLPS; and necessary (allows a possible diagnosis) in 2 (<1%) GISTs, 31 (12%) suspicions of translocation, and 19 (9%) suspicions of ALT/WDLPS-DDLPS. This study performed in an epidemiological setting demonstrates the significant impact of molecular analysis on the final sarcoma diagnosis and favors such an analysis on any tumor with a suspicion of a specific genomic abnormality and for which the diagnosis is uncertain.
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Neuville et al. (2013) conducted an observational in Soft tissue and visceral sarcomas (n=1,484). Molecular analysis vs. Premolecular analysis diagnosis was evaluated on Impact of molecular analysis on final diagnosis (classified as useful or necessary). Molecular analysis was useful in 4% to 31% and necessary in <1% to 12% of suspected sarcomas depending on the genetic lesion, demonstrating its significant impact on final diagnosis.
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