Mark H F, Afify A, Taylor W, Santoro K, Lathrop J C
Laboratory of Cytogenetics, FISH and Genotoxicology, Rhode Island Hospital, Providence 02903, USA.
Cancer Genet Cytogenet. 1997 Nov;99(1):24-9. doi: 10.1016/s0165-4608(96)00439-6.
The present paper describes the results of research conducted to ascertain whether the report by Mark et al. [1], describing the concurrence of congenital trisomy 8 mosaicism and gestational trophoblastic disease (GTD) in a 42 year-old Gravida IV, Para IV patient was an isolated event. In contrast to other cases described in the literature, the patient described in Mark et al. [1] had no additional confounding chromosomal abnormalities other than trisomy 8. To the best of our knowledge, ours was the only reported case of constitutional trisomy 8 mosaicism associated with gestational trophoblastic disease, a rare gynecological disease entity. The question arises whether there exists a subset of patients with GTD characterized by an abnormal chromosome 8 copy number. The implicit hypothesis is that an abnormal number of chromosome 8 somehow predisposes to cancer. A pilot study of 10 cases of GTD was conducted using fluorescence in situ hybridization (FISH) and a commercial chromosome 8-specific alpha-satellite probe on formalin-fixed, paraffin-embedded patient tissues. Among eight informative cases successfully completed, two cases (25%) were found to be trisomic, when a cut-off point of 10% trisomic cells is adopted. Another two cases (25%) were found to be triploid. The results of our FISH study indicated that an abnormal chromosome 8 copy number found in Mark et al. [1] is unlikely to be an isolated event. Our data are consistent with the hypothesis that a subset of GTD indeed may exist which is characterized by more than two copies of chromosome 8. The present findings corroborate those recently found in breast, prostate, and other cancers.
本文描述了为确定Mark等人[1]报告的一名42岁、孕4产4患者先天性8号染色体三体镶嵌现象与妊娠滋养细胞疾病（GTD）并存是否为孤立事件而开展的研究结果。与文献中描述的其他病例不同，Mark等人[1]所描述的患者除8号染色体三体外没有其他混杂的染色体异常。据我们所知，我们的病例是唯一报告的与妊娠滋养细胞疾病相关的体质性8号染色体三体镶嵌病例，妊娠滋养细胞疾病是一种罕见的妇科疾病实体。问题在于是否存在以8号染色体拷贝数异常为特征的GTD患者亚群。隐含的假设是8号染色体数量异常以某种方式易患癌症。使用荧光原位杂交（FISH）和一种商业化的8号染色体特异性α卫星探针，对10例GTD患者福尔马林固定、石蜡包埋的组织进行了一项初步研究。在成功完成的8例信息明确的病例中，当采用10%三体细胞的临界值时，发现2例（25%）为三体。另外2例（25%）为三倍体。我们的FISH研究结果表明，Mark等人[1]中发现的8号染色体拷贝数异常不太可能是孤立事件。我们的数据与这样一种假设一致，即确实可能存在一个以8号染色体多于两个拷贝为特征的GTD亚群。目前的研究结果证实了最近在乳腺癌、前列腺癌和其他癌症中发现的情况。
