Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with caf é-au-lait spots

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 ofSON, an essential protein in cell cycle regulation and cell proliferation, as the most likely genetic cause.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research