University of Oulu

Tolonen, J‐P, Hekkala, A, Kuismin, O, et al. Medulloblastoma, macrocephaly, and a pathogenic germline PTEN variant: Cause or coincidence?. Mol Genet Genomic Med. 2020; 8:e1302. https://doi.org/10.1002/mgg3.1302

Medulloblastoma, macrocephaly, and a pathogenic germline PTEN variant : cause or coincidence?

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Author: Tolonen, Jussi-Pekka1; Hekkala, Anne1; Kuismin, Outi2;
Organizations: 1Department of Pediatrics, MRC Oulu, PEDEGO Research Unit, University of Oulu and Oulu University Hospital, Oulu, Finland
2Department of Clinical Genetics, MRC Oulu, PEDEGO Research Unit, University of Oulu and Oulu University Hospital, Oulu, Finland
3Department of Pathology, Cancer and Translational Medicine Research Unit, University of Oulu and Oulu University Hospital, Oulu, Finland
4Department of Diagnostic Radiology, Oulu University Hospital and University of Oulu, Oulu, Finland
5Research Unit of Medical Imaging, Physics and Technology, Faculty of Medicine, University of Oulu, Oulu, Finland
6Medical Research Center, University of Oulu, Oulu, Finland
7Department of Pathology, HUSLAB, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 0.5 MB)
Persistent link: http://urn.fi/urn:nbn:fi-fe2020102988764
Language: English
Published: John Wiley & Sons, 2020
Publish Date: 2020-10-29
Description:

Abstract

Background: Medulloblastomas (MBs) are a heterogeneous group of childhood brain tumors with four consensus subgroups, namely MBSHH, MBWNT, MBGroup 3, and MBGroup 4, representing the second most common type of pediatric brain cancer after high‐grade gliomas. They suffer from a high prevalence of genetic predisposition with up to 20% of MBSHH caused by germline mutations in only six genes. However, the spectrum of germline mutations in MBSHH remains incomplete.

Methods: Comprehensive Next‐Generation Sequencing panels of both tumor and patient blood samples were performed as molecular genetic characterization. The panels cover genes that are known to predispose to cancer.

Results: Here, we report on a patient with a pathogenic germline PTEN variant resulting in an early stop codon p.(Glu7Argfs*4) (ClinVar ID: 480383). The patient developed macrocephaly and MBSHH, but reached remission with current treatment protocols.

Conclusions: We propose that pathogenic PTEN variants may predispose to medulloblastoma, and show that remission was reached with current treatment protocols. The PTEN gene should be included in the genetic testing provided to patients who develop medulloblastoma at an early age. We recommend brain magnetic resonance imaging upon an unexpected acceleration of growth of head circumference for pediatric patients harboring pathogenic germline PTEN variants.

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Series: Molecular genetics & genomic medicine
ISSN: 2324-9269
ISSN-E: 2324-9269
ISSN-L: 2324-9269
Volume: 8
Issue: 9
Article number: e1302
DOI: 10.1002/mgg3.1302
OADOI: https://oadoi.org/10.1002/mgg3.1302
Type of Publication: A1 Journal article – refereed
Field of Science: 3122 Cancers
3126 Surgery, anesthesiology, intensive care, radiology
Subjects:
Funding: Oulu University Hospital Research Fund.
Copyright information: © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
  https://creativecommons.org/licenses/by/4.0/