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Multiple skin hamartomata: a possible novel clinical presentation of SUFU neoplasia syndrome

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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.

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Acknowledgments

The authors would like to thank Angela Magira, Blake Storey and Iain Gordon for assistance with manuscript preparation and illustrations.

Conflict of interest

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Genetic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Grattan Street, Parkville, VIC, 3050, Australia

    Kirsty Mann & Ingrid Winship

  2. Dorevitch Pathology, Heidelberg, VIC, 3084, Australia

    Jill Magee

  3. Service de Génétique, Département de Biopathology, Gustave Roussy, 94805, Villejuif, France

    Marine Guillaud-Bataille, Christophe Blondel & Brigitte Bressac-de Paillerets

  4. Department of Dermatology, Austin Hospital, Heidelberg, VIC, 3084, Australia

    Josie Yeatman

  5. Department of Medicine, University of Melbourne, Parkville, VIC, 3052, Australia

    Ingrid Winship

Authors
  1. Kirsty Mann
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  2. Jill Magee
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  3. Marine Guillaud-Bataille
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  4. Christophe Blondel
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  5. Brigitte Bressac-de Paillerets
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  6. Josie Yeatman
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  7. Ingrid Winship
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Correspondence to Kirsty Mann.

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Mann, K., Magee, J., Guillaud-Bataille, M. et al. Multiple skin hamartomata: a possible novel clinical presentation of SUFU neoplasia syndrome. Familial Cancer 14, 151–155 (2015). https://doi.org/10.1007/s10689-014-9752-1

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  • DOI: https://doi.org/10.1007/s10689-014-9752-1

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