The Impact of Expert Pathology Review and Molecular Diagnostics on the Management of Sarcoma Patients: A Prospective Study of the Hellenic Group of Sarcomas and Rare Cancers.

Simple Summary: Sarcomas represent a group of rare tumors consisting of more than 100 different entities. A precise diagnosis is crucial to optimal treatment. In addition, a significant proportion of sarcomas are characterized by a specific genetic abnormality. This study was designed by the Hellenic Group of Sarcoma and Rare Cancers to assess the effect of expert pathology review, coupled with the application of molecular methods to detect genetic abnormalities, on the diagnosis and management of sarcoma patients in Greece. We found that histological diagnosis review by a sarcoma pathologist led to modifications in diagnosis in almost one-third of patients, resulting in modifications in management in 14% of patients. The use of molecular tests led to modifications in diagnosis in 26% of patients, resulting in modifications in management in almost 11% of patients. Our study highlights the importance of expert pathologists, assisted in some cases by molecular methods, in sarcoma diagnosis and treatment. Precise classification of sarcomas is crucial to optimal clinical management. In this prospective, multicenter, observational study within the Hellenic Group of Sarcoma and Rare Cancers (HGSRC), we assessed the effect of expert pathology review, coupled with the application of molecular diagnostics, on the diagnosis and management of sarcoma patients. Newly diagnosed sarcoma patients were addressed by their physicians to one of the two sarcoma pathologists of HGSRC for histopathological diagnostic assessment. RNA next-generation sequencing was performed on all samples using a platform targeting 86 sarcoma gene fusions. Additional molecular methods were performed in the opinion of the expert pathologist. Therefore, the expert pathologist provided a final diagnosis based on the histopathological findings and, when necessary, molecular tests. In total, 128 specimens from 122 patients were assessed. Among the 119 cases in which there was a preliminary diagnosis by a non-sarcoma pathologist, there were 37 modifications in diagnosis (31.1%) by the sarcoma pathologist, resulting in 17 (14.2%) modifications in management. Among the 110 cases in which molecular tests were performed, there were 29 modifications in diagnosis (26.4%) through the genomic results, resulting in 12 (10.9%) modifications in management. Our study confirms that expert pathology review is of utmost importance for optimal sarcoma diagnosis and management and should be assisted by molecular methods in selected cases. [ABSTRACT FROM AUTHOR]