Purpose

To investigate the incidence rate of hereditary disease in patients with medulloblastoma.

Methods

The genetic reports of 129 patients with medulloblastoma from January 2016 to December 2019 were retrospectively analyzed. A panel sequence of 39 genes (Genetron Health) were used for all patients to evaluate the tumor subgroup. Four genes (TP53, APC, PTCH1, SUFU) were screened to routinely rule out germline mutation.

Results

Five patients (3.9%) were found with hereditary disease, and all belonged to the sonic hedgehog (SHH) subgroup. Two patients were retrospectively diagnosed with Gorlin–Goltz disease with germline PTCH1 and SUFU mutations. One patient (PTCH1 mutation) accepted whole craniospinal irradiation and had scalp nevoid basal cell carcinoma 5 years later. The other patient (SUFU mutation) accepted chemotherapy and had local tumor relapse 1 year later. Three patients were diagnosed with Li–Fraumeni syndrome and carried the TP53 mutation; all three patients died. One of the patients had bone osteosarcoma, while all three had early tumor relapse.

Conclusion

Patients with SHH medulloblastoma should routinely undergo genetic testing. We propose that whole genome, whole exome sequence, or custom-designed panel-targeted exome sequencing should be performed.

中文翻译：

---

在单个机构中对髓母细胞瘤患者的遗传综合征进行回顾性调查。

目的

调查髓母细​​胞瘤患者遗传性疾病的发生率。

方法

回顾性分析了2016年1月至2019年12月129例髓母细胞瘤患者的遗传报告。所有患者均使用39个基因的组序列（Genetron Health）来评估肿瘤亚组。筛选四个基因（TP53，APC，PTCH1，SUFU）以常规排除种系突变。

结果

发现有五名患者（3.9％）患有遗传性疾病，均属于声波刺猬（SHH）亚组。回顾性诊断出两名患者患有生殖道PTCH1和SUFU突变的Gorlin–Goltz病。一名患者（PTCH1突变）接受了整个颅骨脊髓照射，并于5年后患了头皮癌而无基底细胞癌。另一名患者（SUFU突变）接受了化疗，一年后局部肿瘤复发。3例被诊断患有Li-Fraumeni综合征并带有TP53突变。三名患者全部死亡。其中一名患者患有骨肉瘤，而三名患者均具有早期肿瘤复发的特点。

结论

SHH髓母细胞瘤患者应常规接受基因检测。我们建议应执行整个基因组，整个外显子组序列或定制设计的针对面板的外显子组测序。