TY - JOUR
T1 - Endometrial stromal sarcoma with a sole t(X;17) chromosome change: report of a case and review of the literature
AU - Amant, Frédéric
AU - Moerman, Philippe
AU - Cadron, Isabelle
AU - Hagemeijer, Anne
AU - Vergote, Ignace
AU - Debiec-Rychter, Maria
PY - 2003
Y1 - 2003
N2 - 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. 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. 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
AB - 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. 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. 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
U2 - https://doi.org/10.1016/S0090-8258(02)00096-3
DO - https://doi.org/10.1016/S0090-8258(02)00096-3
M3 - Article
C2 - 12648605
SN - 0090-8258
VL - 88
SP - 459
EP - 462
JO - Gynecologic Oncology
JF - Gynecologic Oncology
IS - 3
ER -