Advances in the Molecular Analysis of Soft Tissue Tumors and Clinical Implications

Abstract

SYNOPSIS The emergence of high-throughput molecular technologies has accelerated the discovery of novel diagnostic, prognostic and predictive molecular markers. Clinical implementation of these technologies is expected to transform the practice of surgical pathology. In soft tissue tumor pathology, accurate interpretation of comprehensive genomic data provides useful diagnostic and prognostic information, and informs therapeutic decisions. Most clinical molecular data will be likely generated by high-throughput genomic technologies, and reporting clinically actionable somatic mutations will be part of the routine pathology workflow, informing patient management and treatment. The purpose of this review is to introduce recently developed molecular technologies and to briefly discuss their potential for clinical implementation, focusing on various applications to the evaluation of soft tissue tumors. A special emphasis is made on practical diagnostic uses relevant to the surgical pathologist, with illustrative examples of how these technologies have helped characterize and diagnose soft tissue lesions. The concept of genomically-informed therapies will be mentioned, as an essential motivation to implement molecular tests to identify targetable molecular alterations in sarcoma.

FISH analysis of selected soft tissue tumors: Diagnostic experience in a tertiary center

“…With the increasing understanding of complex translocations (e.g. cryptic translocations or small inversions), it is becoming evident that FISH alone is not sufficient for the diagnosis of all translocation‐associated sarcomas and additional molecular tools such as RT‐PCR, spectral karyotyping and massive parallel/next‐generation sequencing may assist in characterizing the underlying changes in challenging cases …”

The evolving role of precision medicine in the management of advanced sarcomas – A mini review

“…NGS sequencing includes the following approaches. [9] Whole genome sequencing (WGS) Most comprehensive sequencing technique, but is clinically not practical as it is cumbersome to perform and analyze the large amount of data created, not cost effective, the functional significance of most of the variants detected by WGS is not known; hence, it is still considered as experimental.…”