FaCD Online Syndrome Fact Sheet

Last updated: 21 Nov 2011

Name: Medulloblastoma, associated with Germline SUFU Mutation

Mode of Inheritance: AD

Genes

SUFU, mapped to 10q24-q25

Tumor features

medulloblastoma

Tumor features (possible)

meningioma

Comment

Germline mutations in the SUFU gene, one of the genes of the Sonic Hedghog (SHH) signalling patway, predispose to the development of desmoplastic type (childhood) medulloblastoma.[1,2]. One of the handful of reported patients with these mutations developed a memingioma after irradiation[1]. Symptoms of Gorlin syndrome may be present[1]. Also referred to as nevoid basal cell cancer syndrome, this latter disorder is caused by damage to the SHH pathway as well. Inactivating germline mutations of SUFU appear to cause ~2-3% of sporadic medulloblastomas and >10% of desmoplastic medulloblastomas[3].

References

[1] Taylor MD, Liu L, Raffel C, Hui CC, Mainprize TG, Zhang X, Agatep R, Chiappa S, Gao L, Lowrance A, Hao A, Goldstein AM, Stavrou T, Scherer SW, Dura WT, Wainwright B, Squire JA, Rutka JT, Hogg D. Mutations in SUFU predispose to medulloblastoma. Nature genetics 2002; 31(3):306-10.
[2] Ng D, Stavrou T, Liu L, Taylor MD, Gold B, Dean M, Kelley MJ, Dubovsky EC, Vezina G, Nicholson HS, Byrne J, Rutka JT, Hogg D, Reaman GH, Goldstein AM. Retrospective family study of childhood medulloblastoma. American journal of medical genetics. Part A 2005; 134(4):399-403.
[3] Slade I, et al. Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma. Familial Cancer 2011; 10:337-42.