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Retrospective investigation of hereditary syndromes in patients with medulloblastoma in a single institution

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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.

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Abbreviations

SHH:

sonic hedgehog

MB:

medulloblastoma

PFS:

progression-free survival

WGS:

whole genome sequencing

FAP:

familial adenomatous polyposis

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Acknowledgments

Thanks to the Genetron Health (Beijing) Co. Ltd. for providing all diagnosis information.

Funding

This study was funded by the Capital’s Funds for Health Improvement and Research (CFH 2018-2-2042, 2018-2-1073), Health Commission of Wuhan Municipality Scientific Research Funding (WX19Q17), and Health Commission of Hubei Province Scientific Research Project (WJ2019H364).

Author information

Authors and Affiliations

  1. Beijing Chao-Yang Hospital, Capital Medical University, Beijing, 100020, People’s Republic of China

    Ying Wang

  2. Department of Neurosurgery, General Hospital of The YangTze River Shipping, Wuhan Brain Hospital, Wuhan, 430014, Hubei, China

    Jingchuan Wu

  3. University of Chinese Academy of Sciences, Shenzhen, 518083, China

    Wei Li

  4. Department of Computer Science, City University of Hong Kong, 83 Tat Chee Ave, Kowloon, Hong Kong

    Jiankang Li

  5. Department of neurosurgery, Beijing TianTan Hospital, Capital Medical University, Beijing, 100050, People’s Republic of China

    Raynald Liu, Bao Yang, Chunde Li & Tao Jiang

  6. Beijing Neurosurgical Institute, Capital Medical University, Beijing, 100050, People’s Republic of China

    Raynald Liu, Bao Yang, Chunde Li & Tao Jiang

  7. Beijing, China

    Chunde Li & Tao Jiang

Authors
  1. Ying Wang
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  2. Jingchuan Wu
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  3. Wei Li
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  4. Jiankang Li
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  5. Raynald Liu
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  6. Bao Yang
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  7. Chunde Li
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  8. Tao Jiang
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Contributions

All authors contributed to the study conception and design. Material collection, data collection, and analysis were performed by Ying Wang, Jingchuan Wu and Raynald Liu. Wei Li, and Jiankang Li, and Bao Yang helped analyze the data of all patients. All authors reviewed and contributed to the previous versions of the manuscript. All authors read and approved the final manuscript.

Corresponding authors

Correspondence to Ying Wang or Jingchuan Wu.

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The authors declare that they have no conflict of interest.

Ethical approval

This research was approved by the Beijing Tiantan Hospital Health Board Research Committee (KY 2019-098-1).

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Wang, Y., Wu, J., Li, W. et al. Retrospective investigation of hereditary syndromes in patients with medulloblastoma in a single institution. Childs Nerv Syst 37, 411–417 (2021). https://doi.org/10.1007/s00381-020-04885-z

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  • DOI: https://doi.org/10.1007/s00381-020-04885-z

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