Identifikace rodiny s nosičstvím germinální delece genu SUFU na podkladě diagnózy desmoplastického meduloblastomu u batolete

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Title in English Identification of a Family with SUFU Germline Deletion Based on a Case of Desmoplastic Medulloblastoma in an Infant
Authors

ŠOUKALOVÁ J. VEJMĚLKOVÁ Klára CERMANOVÁ Tereza KAŠÍKOVÁ K. MIKULÁŠOVÁ Aneta JANYŠKOVÁ H. MELICHÁRKOVÁ Kristýna PAVELKA Z. JEŽOVÁ M. POSPÍŠILOVÁ Š. KUGLÍK P. VALÁŠKOVÁ I. GAILLYOVÁ R. ŠTĚRBA Jaroslav ZITTERBART Karel

Year of publication 2016
Type Article in Periodical
Magazine / Source Klinická onkologie
MU Faculty or unit

Faculty of Medicine

Citation
Doi http://dx.doi.org/10.14735/amko2016S83
Field Oncology and hematology
Keywords medulloblastoma; hereditary cancer syndromes; genetic testing; gene deletion; SUFU gene
Description Germline mutations in SUFU gene are believed to predispose to infant des moplastic/ nodular medulloblastomas, basal cell carcinomas and meningiomas. The susceptibility gene shows autosomal dominant inheritance with an incomplete penetrance. There is no evidence-based surveillance strategy suggested for the carriers of germline SUFU mutations/ deletions so far. Our recommendation is based both on a family history of our patient and similar cases described in the literature. Since the germinal mutations in SUFU are responsible for up to 50% of all desmoplastic medulloblastomas in children under three years of age, genetic testing of SUFU should be encouraged in this population of patients.
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