Limited biopsies of soft tissue tumors: the contemporary role of immunohistochemistry and molecular diagnostics

Abstract

Diagnosing soft tissue tumors is challenging, even on ample incisional biopsies or resection specimens. There are more than 100 distinct types of soft tissue neoplasms, including more than 80 benign and intermediate mesenchymal tumors and around 40 soft tissue sarcomas. Accurate diagnosis relies first upon recognition of characteristic histologic and cytologic features, including architecture, stromal characteristics, vascular patterns, and dominant cytology; these features may not be represented or apparent in limited core needle biopsy or fine needle aspiration specimens. Once a differential diagnosis is established, application of immunohistochemistry and cytogenetic or molecular diagnostic assays (especially fluorescence in situ hybridization) is used in an attempt to reach a specific diagnosis. In recent years, the diagnostic armamentarium for soft tissue tumors has expanded dramatically, following the discovery of molecular alterations that underlie the pathogenesis of soft tissue tumors. These include new diagnostic immunohistochemical markers that serve as useful surrogates for molecular genetic alterations. Availability of such markers has improved our ability to render accurate and specific diagnoses based on limited biopsy samples. In this review, examples of recently developed markers for the diagnosis of selected soft tissue tumor types will be discussed, including solitary fibrous tumor (STAT6), malignant peripheral nerve sheath tumor (H3K27me3), epithelioid hemangioendothelioma (CAMTA1), dedifferentiated liposarcoma (MDM2), and CIC-DUX4 sarcoma (WT1 and ETV4).