Zhang Xinyan,Li Wei,Li Jiankang,et al.8 cases of Gorlin-Goltz syndrome associated with medulloblastoma in children[J].Journal of Clinical Pediatric Surgery,,20():409-414.[doi:10.12260/lcxewkzz.2021.05.003]
8 cases of Gorlin-Goltz syndrome associated with medulloblastoma in children
- Keywords:
- Medulloblastoma/CO; Gorlin-Goltz Syndrome; Genetic Variation; Child
- CLC:
- R739.4;R392.2
- Abstract:
- Objective Aims To introduce diagnosis and treatment of pediatric medulloblastoma related Gorlin-Goltz syndrome.Methods From 2014.01 to 2021.01,8 medulloblastoma patients were diagnosed with Gorlin-Goltz syndrome at clinics of Beijing Tiantan Hospital,Capital Medical University.4 patients were male,4 females.Except one patient aged 9 years old,all seven patients were under three years old (9-36 months old,average 19 months).Tumors all located at fourth ventricle with low to medium signal at T1 weighted MRI with obvious contrast,medium to high signal at T2 weighted MRI.Patients all have obstructive hydrocephalus.Seven tumors were desmoplastic/nodular medulloblastoma,one was medulloblastoma with extensive nodularity.Results At median follow-up time of 38 months (1-78 months),one case died at peri-operational period,other seven cases are all alive now.After tumor removal,two patients accepted craniospinal axis irradiation,four patients accepted chemotherapy,one patient accepted both irradiation and chemotherapy.Two tumors relapsed and are under chemotherapy now.One patient had scalp basal cell carcinoma five years later who also accepted postsurgical irradiation.Six tumors belonged to SHH subtype.Four patients were diagnosed as germline SUFU gene mutation,two patients with PTCH1 mutation,one with PTCH2 mutation.Case No.1-3 belongs to one family with germline SUFU mutation.Cerebral falx calcification at CT scan were found in other family members which could help to make the diagnosis of Gorlin-Goltz syndrome and revealed autosomal dominant inheritance model.Conclusion Most medulloblastoma patients with Gorlin-Goltz syndrome are infants,with desmoplastic/nodular pathological subtype and SHH subtype.Chemotherapy should be first line treatment; irradiation may cause secondary neoplasm such as basal cell carcinoma.
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Memo
收稿日期:2021-01-02。
基金项目:首都卫生发展科研专项课题（编号：CFH2018-2-2042，2018-2-1073）
通讯作者:李春徳,Email:lichundelicd@163.com