Department of Medical Genetics, School of Medicine, Ajou University, Suwon, Korea.
J Korean Med Sci. 2010 May;25(5):804-8. doi: 10.3346/jkms.2010.25.5.804. Epub 2010 Apr 16.
Neurofibromatosis type 1 (NF1) is one of the most commonly inherited autosomal dominant disorders. In order to determine whether genomic alterations and/or chromosomal aberrations involved in the malignant progression of NF1 were present in a Korean patient with NF1, molecular and cytogenetic analyses were performed on the pathologically normal, benign, and malignant tissues and primary cells cultured from those tissues of the patient. The comparative genomic hybridization (CGH) array revealed a Y chromosome loss in the malignant peripheral nerve sheet tumor (MPNST) tissue. G-banding analysis of 50 metaphase cells showed normal chromosomal patterns in the histopathologically normal and benign cultured cells, but a mosaic Y chromosome loss in the malignant cells. The final karyotype for the malignant cells from MPNST tissue was 45,X,-Y[28]/46,XY[22]. The data suggest that the somatic Y chromosome loss may be involved in the transformation of benign tumors to MPNSTs.
神经纤维瘤病 1 型（NF1）是最常见的常染色体显性遗传疾病之一。为了确定韩国 NF1 患者是否存在涉及 NF1 恶性进展的基因组改变和/或染色体异常，对患者的病理正常、良性和恶性组织以及从这些组织培养的原代细胞进行了分子和细胞遗传学分析。比较基因组杂交（CGH）阵列显示恶性周围神经鞘瘤（MPNST）组织存在 Y 染色体丢失。50 个中期细胞的 G 带分析显示组织病理学正常和良性培养细胞的染色体模式正常，但恶性细胞存在 Y 染色体镶嵌丢失。来自 MPNST 组织的恶性细胞的最终核型为 45，X，-Y[28]/46，XY[22]。数据表明，体细胞 Y 染色体丢失可能参与良性肿瘤向 MPNST 的转化。
