Perilongo G, Felix C A, Meadows A T, Nowell P, Biegel J, Lange B J
Department of Pediatrics, Children's Hospital of Philadelphia, PA 19104.
Leukemia. 1993 Jun;7(6):912-5.
In her 8 1/2 years of life, a girl with neurofibromatosis type 1 (NF1) developed four sequential primary malignant neoplasms: Wilms tumor, T-cell acute lymphoblastic leukemia, medulloblastoma and acute myeloid leukemia. The last three tumors were characterized by chromosomal abnormalities non-randomly associated with that particular disease. There was no evidence of germline p53 mutation or of mutation of p53 in the last two tumors. We hypothesize that an unusual mutation of the NF1 gene in this child promoted growth in tissues where the normal or mutated NF-1 gene product is usually silent or growth inhibitory.
在一名患有1型神经纤维瘤病(NF1)的女孩8年半的生命中,她先后患上了四种原发性恶性肿瘤:肾母细胞瘤、T细胞急性淋巴细胞白血病、髓母细胞瘤和急性髓系白血病。后三种肿瘤的特征是存在与特定疾病非随机相关的染色体异常。在最后两种肿瘤中,没有胚系p53突变或p53突变的证据。我们推测,这个孩子NF1基因的异常突变促进了正常或突变的NF-1基因产物通常沉默或具有生长抑制作用的组织中的生长。