Amant Frédéric, Moerman Philippe, Cadron Isabelle, Hagemeijer Anne, Vergote Ignace, Debiec-Rychter Maria
Division of Gynecological Oncology, Department of Obstetrics & Gynecology, University Hospitals Leuven, 3000, Leuven, Belgium.
Gynecol Oncol. 2003 Mar;88(3):459-62. doi: 10.1016/s0090-8258(02)00096-3.
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.
子宫内膜间质肉瘤（ESSs）在核型水平上表现出不同程度的恶性和异质性。导致ESS肿瘤发生的生物学机制在很大程度上仍不清楚。
一名患有ESS的33岁女性接受了主要的手术治疗。对原发性子宫结节和转移性肿瘤的细胞遗传学评估显示，在所有分析的中期相中，核型均为46,XX,t(X;17)(p11:q23)。正常子宫内膜细胞表现为46,XX核型。荧光原位杂交分析证实了相互的t(X;17)易位的存在，并确定了X染色体断点位于SSX1基因座远端。
我们报道了一例先前未描述的处于ESS晚期的单一细胞遗传学易位，这可能识别出一个细胞遗传学上不同的ESS亚组，并有助于揭示参与ESS肿瘤发生的基因。
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