Extragonacial germ cell tumors are often associated with Klinefelter syndrome
Extragonacial germ cell tumors are often associated with Klinefelter syndrome
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DOI：
10.1016/j.humpath.2006.01.029
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发表时间：
2006-04-01
期刊：
影响因子：
3.3
通讯作者：
Queipo, G
中科院分区：
文献类型：
--
作者：
Aguirre, D;Nieto, K;Queipo, G
Klinefelter综合征是一种有据可查的性别分化异常，在600名新生男性中的发病率为I。其特征为47，XXY或嵌合核型，临床表现为高促性腺激素性性腺功能减退、小睾丸、不育、体毛减少、男性乳房发育和身材高大。静脉疾病、自身免疫性疾病、轻度神经行为缺陷、糖尿病、性早熟和骨质疏松症等其他疾病也可能影响这些患者。不同的恶性肿瘤，如乳腺癌，睾丸肿瘤，白血病和淋巴瘤发生在1%-2%的情况下。Klinefelter综合征与其他恶性肿瘤如性腺外生殖细胞肿瘤相关;然而，一些作者认为这种相关性是一个不寻常的发现。我们报告了4例年轻男性纵隔生殖细胞肿瘤的分子细胞遗传学研究。荧光原位杂交结果显示，2例为47，XXY核型，另2例为正常XY核型。我们建议，在年轻患者纵隔畸胎瘤，细胞遗传学分析必须始终进行。(c)2006年爱思唯尔公司All rights reserved.
Klinefelter syndrome is a well documented abnormality of sex differentiation, with an incidence of I in 600 newborn males. It is characterized by a 47,XXY or a mosaic karyotype and clinical findings of hypergonadotrophic hypogonadism, small testes, infertility, reduced body hair, gynecomastia, and tall stature. Other conditions like venous disease, autoimmune disorders, mild neurobehavioral deficit, diabetes mellitus, sexual precocity, and osteoporosis may also affect these patients. Different malignancies such as breast cancer, testicular tumors, leukemia, and lymphomas occur in 1%-2% of the cases. Klinefelter syndrome has been associated with other malignancies such as extragonadal germ cell tumors; however, some authors consider this association an unusual finding. We report the molecular cytogenetic studies performed in 4 young males with mediastinal germ cell tumors. In 2 cases, a 47,XXY karyotype was recognized in different tissues by fluorescent in situ hybridization, whereas the other 2 had a normal XY karyotype. We propose that in young patients with mediastinal teratoma, a cytogenetic analysis must always be performed. (c) 2006 Elsevier Inc. All rights reserved.