Molecular Genetics of Mesenchymal Tumors of the Female Genital Tract

Surgical Pathology Clinics
Cheng-Han LeeC Blake Gilks

Abstract

Mesenchymal tumors of the female genital tract are a heterogeneous group of neoplasms that can be classified based on cellular differentiation into 3 main groups: smooth muscle tumors, endometrial stromal tumors, and other differentiated and undifferentiated tumors. Genomic analysis techniques have revealed important genetic aberrations such as the t(7;17) translocation, resulting in JAZF1-JJAZ1 gene fusion, characteristic of endometrial stromal tumors. These analyses have demonstrated genetic complexity and heterogeneity in many mesenchymal tumor types. This article focuses on current understanding of the molecular genetics of mesenchymal tumors of the female genital tract, with emphasis on diagnostic and prognostic molecular features.

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