Ying Wang1, Jingchuan Wu2, Wei Li3, Jiankang Li4, Raynald Liu5,6, Bao Yang5,6, Chunde Li7,8,9, Tao Jiang10,11,12. 1. Beijing Chao-Yang Hospital, Capital Medical University, Beijing, 100020, People's Republic of China. littletony2004@163.com. 2. Department of Neurosurgery, General Hospital of The YangTze River Shipping, Wuhan Brain Hospital, Wuhan, 430014, Hubei, China. 435205012@qq.com. 3. University of Chinese Academy of Sciences, Shenzhen, 518083, China. 4. Department of Computer Science, City University of Hong Kong, 83 Tat Chee Ave, Kowloon, Hong Kong. 5. Department of neurosurgery, Beijing TianTan Hospital, Capital Medical University, Beijing, 100050, People's Republic of China. 6. Beijing Neurosurgical Institute, Capital Medical University, Beijing, 100050, People's Republic of China. 7. Department of neurosurgery, Beijing TianTan Hospital, Capital Medical University, Beijing, 100050, People's Republic of China. lichundelicd@163.com. 8. Beijing Neurosurgical Institute, Capital Medical University, Beijing, 100050, People's Republic of China. lichundelicd@163.com. 9. , Beijing, China. lichundelicd@163.com. 10. Department of neurosurgery, Beijing TianTan Hospital, Capital Medical University, Beijing, 100050, People's Republic of China. zacharytaojiang@163.com. 11. Beijing Neurosurgical Institute, Capital Medical University, Beijing, 100050, People's Republic of China. zacharytaojiang@163.com. 12. , Beijing, China. zacharytaojiang@163.com.
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.
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 patientsdied. 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.
Authors: L Guerrini-Rousseau; M J Smith; C P Kratz; B Doergeloh; S Hirsch; S M J Hopman; M Jorgensen; M Kuhlen; O Michaeli; T Milde; V Ridola; A Russo; H Salvador; N Waespe; B Claret; L Brugieres; D G Evans Journal: Fam Cancer Date: 2021-04-16 Impact factor: 2.375