A novel splice mutation in the TP53 gene associated with Leydig cell tumor and primitive neuroectodermal tumor
| Autor: | Kirsten Grønbæk, Chalotte Willemann Stecher, Henrik Hasle |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2008 |
| Předmět: |
Adult
Male Proband medicine.medical_specialty Biology Radiosurgery medicine.disease_cause Malignancy Neoplasms Multiple Primary Fatal Outcome Testicular Neoplasms Internal medicine Antineoplastic Combined Chemotherapy Protocols medicine Humans Neuroectodermal Tumors Primitive Precocious puberty splice Child Mutation Splice site mutation Infant Newborn Supratentorial Neoplasms Exons Hematology Genes p53 medicine.disease Combined Modality Therapy Pedigree Endocrinology Oncology Leydig Cell Tumor Primitive neuroectodermal tumor Pediatrics Perinatology and Child Health Cancer research Female RNA Splice Sites Cranial Irradiation Orchiectomy |
| Zdroj: | Stecher, C W, Grønbaek, K & Hasle, H 2008, ' A novel splice mutation in the TP53 gene associated with Leydig cell tumor and primitive neuroectodermal tumor. ', Pediatric Blood & Cancer, vol. 50, no. 3, pp. 701-3 . https://doi.org/10.1002/pbc.21074 |
| Popis: | A 20-month-old boy presented with precocious puberty due to a Leydig cell tumor, and at the age of 6 years with a primitive neuroectodermal brain-tumor (PNET). A novel splice site mutation of the TP53-gene, likely to be associated with a nonfunctional protein, was found in the proband, his father and younger sister, but only the proband has so far developed malignancy. The clinical phenotype in the boy is suggestive of Li–Fraumeni syndrome, but the family does not strictly conform to the canonical definition. Pediatr Blood Cancer 2008;50:701–703. © 2006 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|