Abstract:
:Medulloblastoma tumours may arise sporadically or as part of an inherited syndrome. A subset of children with medulloblastoma carry germline and somatic mutations in the SUFU tumour suppressor gene located at 10q24. We report a 55 year old woman referred for investigation on the basis of skin lesions and a family history of two children from different unions with medulloblastoma. Examination of our patient revealed facial papules (classified as benign folliculosebaceous hamartomatous lesions) and dysmorphology (macrocephaly, hypertelorism and prognathism). She reported her father and her son share the same dermatological features; photographs of the son display hypertelorism. Sequencing in our patient revealed a splice-site mutation in intron 6 of SUFU (c. 756+1G>A), predicted to lead to skipping of exon 6. We suggest that the emerging phenotype in SUFU associated with familial medulloblastoma may include hamartomatous skin lesions. Consideration of these features, along with macrocephaly will alert clinicians to the likely genetic basis of the syndrome, affording the opportunity for genetic counselling, prenatal or pre-implantation genetic diagnosis in at-risk families.
journal_name
Fam Cancerjournal_title
Familial cancerauthors
Mann K,Magee J,Guillaud-Bataille M,Blondel C,Bressac-de Paillerets B,Yeatman J,Winship Idoi
10.1007/s10689-014-9752-1subject
Has Abstractpub_date
2015-03-01 00:00:00pages
151-5issue
1eissn
1389-9600issn
1573-7292journal_volume
14pub_type
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