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.

• Authors: Frédéric Amant, Philippe Moerman, Isabelle Cadron, Anne Hagemeijer, Ignace Vergote, Maria Debiec-Rychter
• Journal: Gynecologic oncology (Gynecol Oncol) Vol. 88 Issue 3 Pg. 459-62 (Mar 2003) ISSN: 0090-8258 [Print] United States
• PMID: 12648605 (Publication Type: Case Reports, Journal Article, Review)

Topics

• Adult
• Chromosomes, Human, Pair 17 (genetics)
• Chromosomes, Human, X (genetics)
• Endometrial Neoplasms (genetics)
• Female
• Humans
• Karyotyping
• Sarcoma, Endometrial Stromal (genetics)
• Translocation, Genetic