Brain Tumors Research Today is a free monthly online journal that collates and summarizes the latest research about Brain Tumors, including details on symptoms, benign and malignant tumors, gliomas, screening, treatment.

A novel splice mutation in the TP53 gene associated with Leydig cell tumor and primitive neuroectodermal tumor.

Stecher CW, Grønbaek K, Hasle H

Department of Pediatrics, Skejby Hospital, Aarhus University, Aarhus, Denmark.

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.

Published 15 January 2008 in Pediatr Blood Cancer, 50(3): 701-3.
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