Mistaken identity: A Case for Karyotype Analysis Work-up of Soft Tissue Tumors.

Abstract

Objectives: Soft tissue pathology encompasses a diverse range of benign and malignant soft tissue tumors. Definitive diagnosis is challenging due to the vast number of histologic subtypes (>100) and the potential for overlapping clinical, radiographic, histologic, and/or immunohistochemical features. Many institutions have moved away from cytogenetic analysis in the workup of soft tissue tumors; however, specific non-random cytogenetic abnormalities are characteristic of various tumor types and can reveal or confirm the diagnosis in challenging cases. We present a diagnostically challenging case of myxoid liposarcoma initially considered to be reactive in nature and only correctly diagnosed when karyotype analysis revealed the characteristic t(12;16)(q13;p11.2), thus altering patient care and management.