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Bannayan-Riley-Ruvalcaba Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

In 1960, Riley and Smith described a mother and her four children with macrocephaly and pseudopapilledema due to a mutation in a single autosomal gene (Riley and Smith 1960). In 1971, Bannayan described a 3-year-old girl with macrocephaly and numerous subcutaneous lesions ranging from lipolymphangio-hemangiomas to vascular hamartomas (Bannayan 1971). This syndrome was felt to be related to the one reported earlier by Riley and Smith since both lipomatosis and hemangiomatosis are hamartomatous malformations. In 1980, Ruvalcaba, Myhre, and Smith described two patients with macrocephaly, mental retardation, pigmented spotting of the glans penis and shaft, and multiple polyps of the gastrointestinal tract (Ruvalcaba et al. 1980). The cases described by Bannayan, Riley, Ruvalcaba, Myhre, and Smith were later known as the Bannayan-Riley-Ruvalcaba syndrome (BRRS) when Gorlin and colleagues in 1992 coined the term based on evidence of overlap of these syndromes and later would be linked to mutations in the PTEN gene, which also causes Cowden syndrome (CS) (Gorlin et al. 1992).

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References

  • Arch, E. M., Goodman, B. K., Van Wesep, R. A., et al. (1997). Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. American Journal of Medical Genetics, 71, 489–493.

    Article  CAS  PubMed  Google Scholar 

  • Bannayan, G. A. (1971). Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome. Archives of Pathology, 92, 1–5.

    CAS  PubMed  Google Scholar 

  • Biesecker, L. G., Happle, R., Mulliken, J. B., et al. (1999). Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation. American Journal of Medical Genetics, 84, 389–395.

    Article  CAS  PubMed  Google Scholar 

  • Boccone, L., Dessi, V., Serra, G., et al. (2008). Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation. American Journal of Medical Genetics, 146A, 257–260.

    Article  CAS  PubMed  Google Scholar 

  • Calva, D., & Howe, J. R. (2008). Hamartomatous polyposis syndromes. Surgical Clinics of North America, 88, 779–817.

    Article  PubMed Central  PubMed  Google Scholar 

  • Celebi, J. T., Tsou, H. C., Chen, F. F., et al. (1999). Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN. Journal of Medical Genetics, 36, 360–364.

    PubMed Central  CAS  PubMed  Google Scholar 

  • Eng, C. (2000). Will the real Cowden syndrome please stand up: Revised diagnostic criteria. Journal of Medical Genetics, 37, 828–830.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Eng, C. (2014). PTEN hamartoma tumor syndrome. GeneReviews. Updated 23 Jan 2014. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1488/

  • Gorlin, R. J., Cohen, M. M., Condon, L. M., et al. (1992). Bannayan-Riley-Ruvalcaba syndrome. American Journal of Medical Genetics, 44, 307–314.

    Article  CAS  PubMed  Google Scholar 

  • Hendriks, Y. M., Verhallen, J. T., van der Smagt, J. J., et al. (2003). Bannayan-Riley-Ruvalcaba syndrome: Further delineation of the phenotype and management of PTEN mutation-positive cases. Familial Cancer, 2, 79–85.

    Article  CAS  PubMed  Google Scholar 

  • Howe, J. R., Roth, S., Ringold, J. C., et al. (1998). Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science, 280, 1086–1088.

    Article  CAS  PubMed  Google Scholar 

  • Howe, J. R., Bair, J. L., Sayed, M. G., et al. (2001). Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nature Genetics, 28, 184–187.

    Article  CAS  PubMed  Google Scholar 

  • Lachlan, K. L., Lucassen, A. M., Bunyan, D., et al. (2007). Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: Results of a clinical study of PTEN mutation carriers. Journal of Medical Genetics, 44, 579–585.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Liaw, D., Marsh, D. J., Li, J., et al. (1997). Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nature Genetics, 16, 64–67.

    Article  CAS  PubMed  Google Scholar 

  • Lloyd, K. M., II, & Dennis, M. (1963). Cowden’s disease. A possible new symptom complex with multiple system involvement. Annals of Internal Medicine, 58, 136–142.

    Article  PubMed  Google Scholar 

  • Longy, M., Coulon, V., Duboue, B., et al. (1998). Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype. Journal of Medical Genetics, 35, 886–889.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Marsh, D. J., Dahia, P. L., Zheng, Z., et al. (1997). Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nature Genetics, 16, 333–334.

    Article  CAS  PubMed  Google Scholar 

  • Marsh, D. J., Coulon, V., Lunetta, K. L., et al. (1998). Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Human Molecular Genetics, 7, 507–515.

    Article  CAS  PubMed  Google Scholar 

  • Marsh, D. J., Kum, J. B., Lunetta, K. L., et al. (1999). PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Human Molecular Genetics, 8, 1461–1472.

    Article  CAS  PubMed  Google Scholar 

  • Merks, J. H. M., De Vies, L. S., Zhou, X. P., et al. (2003). PTEN hamartoma tumour syndrome: Variability of an entity. Journal of Medical Genetics, 40, E111.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Orloff, M. S., & Eng, C. (2008). Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome. Oncogene, 27, 5387–5397.

    Article  CAS  PubMed  Google Scholar 

  • Parisi, M. A., Dinulos, M. B., Leppig, K. A., et al. (2001). The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. Journal of Medical Genetics, 38, 52–58.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Pilarski, R., Stephens, J. A., Noss, R., et al. (2011). Predicting PTEN mutations: An evaluation of Cowden syndrome and Bannayan-riley-Ruvalcaba syndrome clinical features. Journal of Medical Genetics, 48, 505–512.

    Article  CAS  PubMed  Google Scholar 

  • Riegert-Johnson, D. L., Gleeson, F. C., Roberts, M., et al. (2010). Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. Hereditary Cancer in Clinical Practice, 8, 6–12.

    Article  PubMed Central  PubMed  Google Scholar 

  • Riley, H. D., Jr., & Smith, W. R. (1960). Macrocephaly, pseudopapilloedema and multiple hemangioma: A previously undescribed heredofamilial syndrome. Pediatrics, 26, 293–300.

    Google Scholar 

  • Ruvalcaba, R. H. A., Myhre, S., & Smith, D. W. (1980). Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia. Clinical Genetics, 16, 413–416.

    Google Scholar 

  • Smith, J. M., Kirk, E. P. E., Theodosopoulos, G., et al. (2002). Germline mutation of the tumour suppressor PTEN in Proteus syndrome. Journal of Medical Genetics, 39, 937–940.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Starink, T. M., van der Veen, J. P. W., Arwert, F., et al. (1986). The Cowden syndrome: A clinical and genetic study in 21 patients. Clinical Genetics, 29, 222–233.

    Article  CAS  PubMed  Google Scholar 

  • Zhou, X. P., Hampel, H., Thiele, H., et al. (2001). Association of germline mutation in the PTEN tumour suppressor gene and a subset of Proteus and Proteus-like syndromes. Lancet, 358, 210–211.

    Article  CAS  PubMed  Google Scholar 

  • Zhou, X. P., Waite, K. A., Pilarski, R., et al. (2003a). Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. American Journal of Human Genetics, 73, 404–411.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Zhou, X. P., Marsh, D. J., Morrison, C. D., et al. (2003b). Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults. American Journal of Human Genetics, 73, 1191–1198.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  • Zigman, A. F., Lavine, J. E., Jones, M. C., et al. (1997). Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23. Gastroenterology, 113, 1433–1437.

    Article  CAS  PubMed  Google Scholar 

  • Zonana, J., Rimoin, D. L., & Davis, D. C. (1976). Macrocephaly with multiple lipomas and hemangiomas. Journal of Paediatrics, 89, 600–603.

    Article  CAS  Google Scholar 

  • Zori, R. T., Marsh, D. J., Graham, G. E., et al. (1998). Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. American Journal of Medical Genetics, 80, 399–402.

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Shreveport, LA, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, 71130, Shreveport, LA, USA

    Harold Chen

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  1. Harold Chen
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Correspondence to Harold Chen .

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Chen, H. (2015). Bannayan-Riley-Ruvalcaba Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_21-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_21-2

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  • Online ISBN: 978-1-4614-6430-3

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