Bigner S H, Mark J, Friedman H S, Biegel J A, Bigner D D
Preuss Laboratory for Brain Tumor Research, Duke University Medical Center, Durham, NC 27710.
Cancer Genet Cytogenet. 1988 Jan;30(1):91-101. doi: 10.1016/0165-4608(88)90096-9.
Seven human medulloblastomas (four primary cerebellar, three recurrent or metastatic) were karyotyped in direct preparation and/or short-term or early culture. One tumor had a 46,XX stem line. Four of the six remaining tumors contained one or more i(17q), and three of these six tumors had deletions of extra copies of chromosome #1, resulting in trisomy of 1p, 1q, or both. Two tumors had near-centromeric breaks of chromosome #3, two tumors contained unbalanced translocations with breakpoints at 20q13, and two tumors contained double minutes. These findings suggest that the primary karyotypic deviations of human medulloblastomas are gains of whole chromosomes, which are then either deleted or involved in unbalanced translocations, resulting in partial trisomies.
对7例人类髓母细胞瘤（4例原发性小脑肿瘤，3例复发性或转移性肿瘤）进行了直接制片和/或短期或早期培养后的核型分析。1例肿瘤有46,XX干细胞系。其余6例肿瘤中有4例含有一条或多条i(17q)，这6例肿瘤中有3例存在1号染色体额外拷贝的缺失，导致1p、1q三体或两者均三体。2例肿瘤有3号染色体近着丝粒断裂，2例肿瘤含有断点位于20q13的不平衡易位，2例肿瘤含有双微体。这些发现表明，人类髓母细胞瘤的主要核型偏差是整条染色体的增加，随后这些染色体要么被删除，要么参与不平衡易位，导致部分三体。
