Gonadoblastoma in Turner syndrome patients with nonmosaic 45,X karyotype and Y chromosome sequences

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• 作者：Canto ; Patricia ; Kofman-Alfaro ; Susana ; Jimé ; nez ; Ana Luisa ; Sö ; derlund ; Daniela ; et. al.
• 刊名：Cancer Genetics and Cytogenetics
• 出版年：2004
• 出版时间：April 1, 2004
• 年：2004
• 卷：150
• 期：1
• 页码：70-72
• 全文大小：149 K

文摘

Turner syndrome (TS) is a disorder caused by partial or complete X-chromosome monosomy. Studies in TS patients with different karyotypes have demonstrated the presence of Y-chromosome–derived sequences (4–61 % ). Early detection of Y-chromosome sequences in TS is of great importance because of the high risk of gonadal tumor development. We investigated the presence of Y-chromosome sequences in TS patients with a 45,X karyotype. One hundred seven unrelated 45,X Mexican TS patients recruited between 1992 and 2003 were included. Y-chromosome–derived sequences were found by polymerase chain reaction in 10 (9.3 % ) patients. Six subjects underwent gonadectomy and in one of them a gonadoblastoma was found; another developed a gonadoblastoma with dysgerminoma. Because of the high proportion (33 % ) of gonadal tumors in patients with Y-chromosome sequences found among our patients of mestizo origin, adequate counseling regarding a gonadectomy should be given.