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
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
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
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.
- Brugieres L. J Clin Oncol.