Miller R W, Rubinstein J H
Clinical Epidemiology Branch, National Cancer Institute, Bethesda, Maryland 20892-7360, USA.
Am J Med Genet. 1995 Mar 13;56(1):112-5. doi: 10.1002/ajmg.1320560125.
The 14 tumors reported in Rubinstein-Taybi syndrome since 1989, when added to the 22 previously reported, are beginning to show a pattern of neural and developmental tumors, especially of the head, which is malformed in the syndrome. Among the neoplasms were 12 of the nervous system: 2 each of oligodendroglioma, medulloblastoma, neuroblastoma, and benign meningioma, a pheochromocytoma, and 3 other benign tumors; 2 of nasopharyngeal rhabdomyosarcoma; and 1 each of leiomyosarcoma, seminoma, and embryonal carcinoma. Among the other benign tumors were an odontoma, a choristoma, a dermoid cyst, and 2 pilomatrixomas.
自1989年以来,鲁宾斯坦-泰比综合征报告了14例肿瘤,加上之前报告的22例,开始呈现出神经和发育性肿瘤的模式,尤其是头部肿瘤,该综合征患者的头部存在畸形。这些肿瘤包括12例神经系统肿瘤:少突胶质细胞瘤、髓母细胞瘤、神经母细胞瘤和良性脑膜瘤各2例,1例嗜铬细胞瘤,以及3例其他良性肿瘤;2例鼻咽横纹肌肉瘤;平滑肌肉瘤、精原细胞瘤和胚胎性癌各1例。其他良性肿瘤包括1例牙瘤、1例迷芽瘤、1例皮样囊肿和2例毛母质瘤。