Retrospective investigation of hereditary syndromes in patients with medulloblastoma in a single institution
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ORIGINAL ARTICLE
Retrospective investigation of hereditary syndromes in patients with medulloblastoma in a single institution Ying Wang 1 & Jingchuan Wu 2 & Wei Li 3 & Jiankang Li 4 & Raynald Liu 5,6 & Bao Yang 5,6 & Chunde Li 5,6,7 & Tao Jiang 5,6,7 Received: 2 July 2020 / Accepted: 7 September 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract 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. Keywords Medulloblastoma . Germline mutation . Gorlin–Goltz syndrome . Li–Fraumeni syndrome . Familial adenomatous polyposis
* Ying Wang [email protected]
1
Beijing Chao-Yang Hospital, Capital Medical University, Beijing 100020, People’s Republic of China
2
Department of Neurosurgery, General Hospital of The YangTze River Shipping, Wuhan Brain Hospital, Wuhan 430014, Hubei, China
3
University of Chinese Academy of Sciences, Shenzhen 518083, China
Wei Li [email protected]
4
Department of Computer Science, City University of Hong Kong, 83 Tat Chee Ave, Kowloon, Hong Kong
Jiankang Li [email protected]
5
Department of neurosurgery, Beijing TianTan Hospital, Capital Medical University, Beijing 100050, People’s Republic of China
Raynald Liu [email protected]
6
Beijing Neurosurgical Institute, Capital Medical University, Beijing 100050, People’s Republic of China
Bao Yang [email protected]
7
Beijing, China
* Jingchuan Wu [email protected] * Chunde Li * Tao Jiang
Childs Nerv Syst
Introduction Medulloblastoma (MB) is a malignant intracranial tumor that is typically detected and diagnosed in childhood. Approximately 400 new MB cases are diagnosed in the US annually [1]. The 2016 WHO pathogenic classification includes five histologically distinct subtypes: classic, desmoplastic/nodular, large cell/anaplastic, and MB with extensive nodularity [2]. Moreover, it is
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