两例患有SUFU基因变异型戈林-戈尔茨综合征的兄弟的先天性髓母细胞瘤：病例报告及文献综述
Congenital medulloblastoma in two brothers with SUFU-mutated Gorlin-Goltz syndrome: Case reports and literature review.
作者信息
Chen Yufan, Zhang Haibo, Zhao Yang, Ma Jie
机构信息
Department of Pediatric Neurosurgery, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
出版信息
Front Oncol. 2022 Oct 12;12:988798. doi: 10.3389/fonc.2022.988798. eCollection 2022.
BACKGROUND
Congenital medulloblastoma is very rare, and many cases involve germline mutations that can lead to inherited syndromes. Here, we first report two brothers with congenital medulloblastoma who were diagnosed with Gorlin-Goltz syndrome caused by SUFU mutation.
CLINICAL PRESENTATION
Medulloblastoma was detected in two brothers at 2 and 3 months of age, with very similar imaging features. Genetic testing revealed that both children and their mother carried SUFU gene germline mutations, and both brothers were diagnosed with Gorlin-Goltz syndrome.
CONCLUSION
Gorlin-Goltz syndrome-associated congenital medulloblastoma with SUFU germline mutation is very rare. Pathological types mostly involve desmoplastic/nodular or extensive nodularity; chemotherapy is the main treatment, and studies revealing prognostic data are scarce.
背景
先天性髓母细胞瘤非常罕见，许多病例涉及可导致遗传性综合征的种系突变。在此，我们首次报告两例患有先天性髓母细胞瘤的兄弟，他们被诊断为由SUFU突变引起的戈林-戈尔茨综合征。
临床表现
两兄弟分别在2个月和3个月大时被检测出患有髓母细胞瘤，影像学特征非常相似。基因检测显示，两个孩子及其母亲都携带SUFU基因种系突变，两兄弟均被诊断为戈林-戈尔茨综合征。
结论
伴有SUFU种系突变的戈林-戈尔茨综合征相关先天性髓母细胞瘤非常罕见。病理类型大多涉及促结缔组织增生性/结节型或广泛结节型；化疗是主要治疗方法，且揭示预后数据的研究较少。
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