Journal Article

DZNE-2020-07071

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots.

Chiu, C. ; Loth, S. ; Kuhlen, M. ; Ginzel, S. ; Schaper, J. ; Rosenbaum, T. ; Pietsch, T.DZNE* ; Borkhardt, A. ; Hoell, J. I. (Corresponding author)

2019
Springer Science + Business Media B.V Dordrecht [u.a.]

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Please use a persistent id in citations: doi:10.1007/s10689-019-00121-z

Abstract: Medulloblastoma is the most frequent malignant brain tumor in childhood. This highly malignant neoplasm occurs usually before 10 years of age and more frequently in boys. The 5-year event-free survival rate for high-risk medulloblastoma is low at 62% despite a multimodal therapy including surgical resection, radiation therapy and chemotherapy. We report the case of a boy, who was born to consanguineous parents. Prominently, he had multiple café-au-lait spots. At the age of 3 years he was diagnosed with a high-risk metastatic medulloblastoma. The patient died only 11 months after diagnosis of a fulminant relapse presenting as meningeal and spinal dissemination. Whole-exome sequencing of germline DNA was employed to detect the underlying mutation for this putative cancer syndrome presenting with the combination of medulloblastoma and skin alterations. After screening all possible homozygous gene SNVs, we identified a mutation of SON, an essential protein in cell cycle regulation and cell proliferation, as the most likely genetic cause.

Keyword(s): Cafe-au-Lait Spots: genetics (MeSH) ; Cerebellar Neoplasms: genetics (MeSH) ; Child, Preschool (MeSH) ; Consanguinity (MeSH) ; DNA-Binding Proteins: genetics (MeSH) ; Fatal Outcome (MeSH) ; Humans (MeSH) ; Male (MeSH) ; Medulloblastoma: genetics (MeSH) ; Minor Histocompatibility Antigens: genetics (MeSH) ; Pedigree (MeSH) ; Point Mutation (MeSH) ; Syndrome (MeSH) ; DNA-Binding Proteins ; Minor Histocompatibility Antigens ; SON protein, human

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Contributing Institute(s):

1. Brainbank Unit Bonn (Brainbank (Bonn))

Research Program(s):

1. 345 - Population Studies and Genetics (POF3-345) (POF3-345)

Appears in the scientific report 2019

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Database coverage:
; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; IF < 5 ; JCR ; Nationallizenz ; SCOPUS ; Web of Science Core Collection

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