Tomlinson F H, Jenkins R B, Scheithauer B W, Keelan P A, Ritland S, Parisi J E, Cunningham J, Olsen K D
Department of Neurologic Surgery, Mayo Clinic Rochester, Minnesota 55905.
Mayo Clin Proc. 1994 Apr;69(4):359-65. doi: 10.1016/s0025-6196(12)62221-6.
A 27-year-old man was treated for an aggressive cerebellar medulloblastoma that, at operation, exhibited dural invasion. Six months after gross total resection and radiation therapy, a "surgical metastasis" developed in the lower portion of the surgical scar. The tumor grew rapidly down into the right side of his neck. Chemotherapy failed, and he subsequently died. Cytogenetic and molecular genetic studies revealed multiple numeric and structural chromosome abnormalities, including an abnormal chromosome 17p arm, more than 100-fold N-myc amplification, a rearranged c-myc gene, and a 16-base pair deletion involving exon 7 of the p53 gene. We postulate that these genetic features may have contributed to the aggressive behavior of the tumor.
一名27岁男性因侵袭性小脑髓母细胞瘤接受治疗，手术时发现肿瘤侵犯硬脑膜。在进行全切除和放射治疗6个月后，手术切口下部出现“手术转移”。肿瘤迅速向下生长至颈部右侧。化疗失败，患者随后死亡。细胞遗传学和分子遗传学研究发现多个染色体数目和结构异常，包括17号染色体短臂异常、N-myc基因扩增超过100倍、c-myc基因重排以及p53基因第7外显子16个碱基对缺失。我们推测这些遗传特征可能导致了肿瘤的侵袭性行为。
