Scheurlen W, Sörensen N, Roggendorf W, Kühl J
Department of Paediatrics, University of Würzburg, Germany.
Eur J Pediatr. 1996 Oct;155(10):880-4. doi: 10.1007/BF02282838.
We report male monocygotic twins with concordant desmoplastic medulloblastoma diagnosed at the age of 20 months. Both tumours were completely removed. As chromosomal loci 17p13 and 9q31 are frequently altered in medulloblastoma these regions were analysed in both tumours in detail using restriction fragment length polymorphism and microsatellite analysis. No common aberration was found. The c-myc gene on chromosome 8q21 was not amplified.
Although a common genetic defect has not been found in our patients' tumours the clinical presentation supports the assumption of an inherited genetic predisposition to develop medulloblastoma in at least some cases.
我们报告了一对20个月大时被诊断为一致性促纤维增生性髓母细胞瘤的男性单卵双胞胎。两个肿瘤均被完全切除。由于染色体位点17p13和9q31在髓母细胞瘤中经常发生改变，因此使用限制性片段长度多态性和微卫星分析对这两个肿瘤中的这些区域进行了详细分析。未发现共同的畸变。8号染色体q21上的c-myc基因未扩增。
尽管在我们患者的肿瘤中未发现共同的遗传缺陷，但临床表现支持至少在某些情况下存在遗传性遗传易感性导致髓母细胞瘤发生的假设。
