Identifikace rodiny s nosičstvím germinální delece genu SUFU na podkladě diagnózy desmoplastického meduloblastomu u batolete
| Title in English | Identification of a Family with SUFU Germline Deletion Based on a Case of Desmoplastic Medulloblastoma in an Infant |
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| Authors | |
| Year of publication | 2016 |
| Type | Article in Periodical |
| Magazine / Source | Klinická onkologie |
| MU Faculty or unit | |
| 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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