Stejskalová Eva, Malis Josef, Snajdauf Jirí, Pýcha Karel, Urbánková Helena, Bajciová Viera, Starý Jan, Kodet Roman, Jarosová Marie
Department of Pediatric Hematology and Oncology, Oncocytogenetics, University Hospital-Motol, V Uvalu 84, 15006 Prague 5, Czech Republic.
Cancer Genet Cytogenet. 2009 Oct 15;194(2):82-7. doi: 10.1016/j.cancergencyto.2009.06.001.
Hepatoblastoma is the most common primary hepatic tumor in children, and only a limited number of detailed karyotypic analyses have been reported to date. In the present study, cytogenetic abnormalities were identified in nine cases of hepatoblastoma from a single institution. Among characteristic chromosomal changes detected were simple numerical aberrations, structural alterations of chromosomes 1, 2, and 8, and the recurrent unbalanced rearrangements der(4)t(1;4)(q25.2;q35.1) and der(6)t(1;6)(q21;q26). Array comparative genomic hybridization was applied in four of the cases. The combined cytogenetic, molecular cytogenetic, and histopathologic analyses are presented here, together with clinical data. The results substantially confirm previous findings of aberrations involving chromosomal loci on 1q, 2 or 2q, 4q, 6q, 8 or 8q, and 20 as significant in the development and clinical course of this disease.
肝母细胞瘤是儿童最常见的原发性肝脏肿瘤，迄今为止仅有有限数量的详细核型分析报告。在本研究中，从单一机构的9例肝母细胞瘤病例中鉴定出细胞遗传学异常。检测到的特征性染色体变化包括简单的数目畸变、1号、2号和8号染色体的结构改变，以及反复出现的不平衡重排der(4)t(1;4)(q25.2;q35.1)和der(6)t(1;6)(q21;q26)。对其中4例病例应用了阵列比较基因组杂交技术。本文呈现了细胞遗传学、分子细胞遗传学和组织病理学的联合分析结果以及临床数据。这些结果充分证实了先前关于1q、2或2q、4q、6q、8或8q以及20号染色体位点畸变在该疾病发生发展和临床进程中具有重要意义的发现。
