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000140749 037__ $$aDZNE-2020-07071
000140749 041__ $$aEnglish
000140749 082__ $$a610
000140749 1001_ $$aChiu, Celine$$b0
000140749 245__ $$aMutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots.
000140749 260__ $$aDordrecht [u.a.]$$bSpringer Science + Business Media B.V$$c2019
000140749 264_1 $$2Crossref$$3online$$bSpringer Science and Business Media LLC$$c2019-01-24
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000140749 520__ $$aMedulloblastoma 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.
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000140749 650_7 $$2NLM Chemicals$$aDNA-Binding Proteins
000140749 650_7 $$2NLM Chemicals$$aMinor Histocompatibility Antigens
000140749 650_7 $$2NLM Chemicals$$aSON protein, human
000140749 650_2 $$2MeSH$$aCafe-au-Lait Spots: genetics
000140749 650_2 $$2MeSH$$aCerebellar Neoplasms: genetics
000140749 650_2 $$2MeSH$$aChild, Preschool
000140749 650_2 $$2MeSH$$aConsanguinity
000140749 650_2 $$2MeSH$$aDNA-Binding Proteins: genetics
000140749 650_2 $$2MeSH$$aFatal Outcome
000140749 650_2 $$2MeSH$$aHumans
000140749 650_2 $$2MeSH$$aMale
000140749 650_2 $$2MeSH$$aMedulloblastoma: genetics
000140749 650_2 $$2MeSH$$aMinor Histocompatibility Antigens: genetics
000140749 650_2 $$2MeSH$$aPedigree
000140749 650_2 $$2MeSH$$aPoint Mutation
000140749 650_2 $$2MeSH$$aSyndrome
000140749 7001_ $$aLoth, Stefanie$$b1
000140749 7001_ $$aKuhlen, Michaela$$b2
000140749 7001_ $$aGinzel, Sebastian$$b3
000140749 7001_ $$aSchaper, Jörg$$b4
000140749 7001_ $$aRosenbaum, Thorsten$$b5
000140749 7001_ $$0P:(DE-2719)2812617$$aPietsch, Torsten$$b6$$udzne
000140749 7001_ $$aBorkhardt, Arndt$$b7
000140749 7001_ $$0P:(DE-HGF)0$$aHoell, Jessica I$$b8$$eCorresponding author
000140749 77318 $$2Crossref$$3journal-article$$a10.1007/s10689-019-00121-z$$b : Springer Science and Business Media LLC, 2019-01-24$$n3$$p353-358$$tFamilial Cancer$$v18$$x1389-9600$$y2019
000140749 773__ $$0PERI:(DE-600)2015448-3$$a10.1007/s10689-019-00121-z$$gVol. 18, no. 3, p. 353 - 358$$n3$$p353-358$$q18:3<353 - 358$$tFamilial cancer$$v18$$x1389-9600$$y2019
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