SUFU mutation prevalent in children with medulloblastoma

Issue: June 10, 2012

The presence of a mutation to the SUFU gene may be responsible for the occurrence of medulloblastoma in children who are aged younger than 3 years at diagnosis, according to the results of a recently published study.

Prior research has identified the SUFU mutation in several patients with the nodular/desmoplastic or extensive nodularity subtypes of medulloblastoma, including several patients with medulloblastoma from the same family.

In this study, the researchers sought to examine the prevalence of the SUFU mutation in a series of unselected patients. They conducted a complete mutational analysis of 131 patients treated for medulloblastoma between 1972 and 2009 at the Institut Gustave Roussy.

SUFU mutations were found in eight of the patients. Of those with the mutation, three had medulloblastoma with extensive nodularity, four had desmoplastic/nodular medulloblastomas and one had another subtype of the disease.

All eight of the mutations were identified in children aged younger than 3 years at diagnosis.

The researchers were able to analyze relatives of six of the patients for a deleterious mutation. In four of six cases, the mutation was inherited from the healthy father. In the remaining two cases, de novo mutations occurred.

These results have prompted the researchers “to recommend genetic testing for all children affected by sonic hedgehog-driven medulloblastoma before this age of onset,” the researchers wrote.

References:

Brugieres L. J Clin Oncol. 2012;doi:10.1200/JCO.2011.38.7258.