Walter A W, Pivnick E K, Bale A E, Kun L E
Department of Hematology-Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
J Pediatr Hematol Oncol. 1997 May-Jun;19(3):258-62. doi: 10.1097/00043426-199705000-00016.
We report that patients with nevoid basal cell carcinoma syndrome (Gorlin syndrome) are at risk for developing neoplasms, especially basal cell carcinomas and rarely medulloblastoma.
A case report is presented of a 5-year-old child with medulloblastoma and multiple basal cell carcinomas who was diagnosed with nevoid basal cell carcinoma syndrome. Genetic analyses were performed on tumor DNA from the patient's medulloblastoma and basal cell carcinoma as well as germline DNA from the patient and unaffected family members.
After radiation therapy for medulloblastoma, the patient developed thousands of additional basal cell carcinomas. Analysis of tumor DNA revealed the characteristic defect of nevoid basal cell carcinoma syndrome, loss of heterozygosity at 9q22. Photodynamic therapy was successfully used to control the majority of her cutaneous tumors.
DNA analysis confirmed the presence of the distinctive genetic lesion of nevoid basal cell carcinoma syndrome in both medulloblastoma and basal cell carcinoma. Omitting or limiting radiation therapy for children with nevoid basal cell carcinoma syndrome and medulloblastoma should be considered.
我们报告痣样基底细胞癌综合征（戈林综合征）患者有发生肿瘤的风险，尤其是基底细胞癌，而髓母细胞瘤则较为罕见。
报告一例5岁患有髓母细胞瘤和多发基底细胞癌的儿童，该患儿被诊断为痣样基底细胞癌综合征。对患者髓母细胞瘤和基底细胞癌的肿瘤DNA以及患者及其未患病家庭成员的生殖系DNA进行了基因分析。
髓母细胞瘤放疗后，患者又出现了数千个基底细胞癌。肿瘤DNA分析显示痣样基底细胞癌综合征的特征性缺陷，即9q22杂合性缺失。光动力疗法成功地用于控制她的大多数皮肤肿瘤。
DNA分析证实髓母细胞瘤和基底细胞癌中均存在痣样基底细胞癌综合征独特的基因病变。对于患有痣样基底细胞癌综合征和髓母细胞瘤的儿童，应考虑省略或限制放疗。
