The Recent Advances in Molecular Diagnosis of Soft Tissue Tumors

Abstract

Soft tissue tumors are rare mesenchymal tumors with divergent differentiation. The diagnosis of soft tissue tumors is challenging for pathologists owing to the diversity of tumor types and histological overlap among the tumor entities. Present-day understanding of the molecular pathogenesis of soft tissue tumors has rapidly increased with the development of molecular genetic techniques (e.g., next-generation sequencing). Additionally, immunohistochemical markers that serve as surrogate markers for recurrent translocations in soft tissue tumors have been developed. This review aims to provide an update on recently described molecular findings and relevant novel immunohistochemical markers in selected soft tissue tumors.

Genomic profiling in GIST: Implications in clinical outcome and future challenges

“…For an appropriated clinical management of GISTs the genomic profiling and molecular classification are fundamental. Approximately 80 % of GISTs harbor activating mutations in KIT gene, [ 14 , 15 ]. KIT encodes the 145 kDa receptor tyrosine kinase c-KIT that is member of the type III tyrosine kinase receptor family [16] .…”

Pleomorphic Adenoma in a Posterior Cervical Soft Tissue Mass: A Diagnostic Conundrum

“…The posterior neck mainly consists of soft tissue and tumors arising from this region involve a wide spectrum of differentiation. The tumors commonly originate from adipose tissue, muscle, and blood vessels but rarely from salivary glands [ 1 , 2 ]. The presence of heterotopic salivary glands in the posterior neck is exceptionally uncommon and tumors originating from this mesenchymal pose a diagnostic dilemma.…”

Pathology, Diagnosis, and Management of Sarcoma

“…Recent development of molecular genetic techniques, including next-generation sequencing, has furthered understanding of the molecular pathogenesis of sarcomas. Choi et al reviewed recent molecular findings and novel immunohistochemical markers in soft tissue tumors [ 1 ]. In their review article, molecular genetic alterations and immunohistochemical markers in various types of soft tissue tumors are summarized.…”