Endometrial stromal sarcoma with a sole t(X;17) chromosome change: report of a case and review of the literature

Abstract

Background: Endometrial stromal sarcomas (ESSs) exhibit varying degrees of malignancy and heterogeneity at the karyotypic level. The biological mechanisms that contribute to tumorigenesis of ESS are still largely unknown.

Case: A 33-year-old woman suffering from ESS was treated primarily surgically. Cytogenetic evaluation of the primary uterine nodule and metastatic tumor showed 46,XX,t(X;17)(p11:q23) karyotype in all metaphases analyzed. Normal endometrial cells exhibited 46,XX karyotype. Fluorescence in situ hybridization analysis confirmed the presence of the reciprocal t(X;17) translocation and allowed for the positioning of the chromosome X breakpoint distal to SSX1 gene loci.

Conclusions: Our report of a previously undescribed sole cytogenetic translocation in an advanced stage of ESS might identify a cytogenetically distinct subgroup of ESS and help to reveal genes involved in ESS tumorigenesis.