Qureshi F, Jacques S M, Johnson M P, Reichler A, Evans M I
Department of Pathology, Hutzel Hospital, Detroit,MI 48201.
Am J Med Genet. 1994 Oct 15;53(1):24-8. doi: 10.1002/ajmg.1320530106.
We report on a fetus with a de novo unbalanced translocation 3;10 and a microscopic neuroblastoma. The fetus had the karyotypic and phenotypic manifestations of partial dup (3q). The finding of a constitutional chromosomal abnormality and a microscopic neuroblastoma, although possibly coincidental, supports Knudson's two hit hypothesis for development of neuroblastomas and other embryonal tumors. In this case the first mutation is represented by the constitutional abnormality, possibly resulting in the microscopic neuroblastoma. A second mutation affecting the abnormal cells, which may be more prone to mutagenesis, may trigger a neuroblastoma.
我们报告了一例患有新发不平衡易位3;10和微小神经母细胞瘤的胎儿。该胎儿具有部分dup(3q)的核型和表型表现。发现一种先天性染色体异常和微小神经母细胞瘤，尽管可能是巧合，但支持了Knudson关于神经母细胞瘤和其他胚胎性肿瘤发生的双击假说。在这种情况下，第一次突变由先天性异常代表，可能导致微小神经母细胞瘤。影响异常细胞的第二次突变，可能更容易发生诱变，可能引发神经母细胞瘤。
