Synonyms
A number of names including Bannayan-Riley-Ruvalcaba syndrome, Bannayan-Ruvalcaba-Riley syndrome, Bannayan-Zonana syndrome, and Myhre-Riley-Smith syndrome
Definition
The PTEN hamartoma tumor syndrome is an inherited autosomal dominant condition characterized by a spectrum of four major disorders, each with germline mutations in the PTEN (phosphatase and tensin homolog) tumor suppressor gene. The spectrum includes Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome. Based on similar clinical and genotypic features, some researchers have proposed that these syndromes including Cowden syndrome represent a spectrum of a single disorder instead of four distinct entities. Since Cowden syndrome has comprehensively been described in a separate chapter, herein we will discuss the non-Cowden syndrome PTEN hamartoma tumor syndromes.
Clinical Features
Bannayan-Riley-Ruvalcaba syndromeis a rare congenital disorder characterized by...
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References and Further Reading
Eng, C. (2001, November 29). PTEN hamartoma tumor syndrome. [Updated 2016 Jun 2]. In: M. P. Adam , H. H. Ardinger, R. A. Pagon, et al., (Eds.). GeneReviews® [Internet]. Seattle: University of Washington, Seattle; 1993–2019. https://www.ncbi.nlm.nih.gov/books/NBK1488/
Hobert, J., & Eng, C. (2009). PTEN hamartoma tumor syndrome: An overview. Genetics in Medicine, 11, 687–694.
Lindhurst, M. J., Sapp, J. C., Teer, J. K., Johnston, J. J., Finn, E. M., Peters, K., et al. (2011). A mosaic activating mutation in AKT1 associated with the Proteus syndrome. The New England Journal of Medicine, 365(7), 611–619.
Marsh, D. J., Coulon, V., Lunetta, K. L., Rocca-Serra, P., Dahia, P. L., Zheng, Z., 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.
Mester, J. L., Tilot, A. K., Rybicki, L. A., Frazier, T. W., 2nd, & Eng, C. (2011). Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in PTEN knock-in murine model. European Journal of Human Genetics: EJHG, 19(7), 763–768.
Ngeow, J., Mester, J., Rybicki, L. A., Ni, Y., Milas, M., & Eng, C. (2011). Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. The Journal of Clinical Endocrinology and Metabolism, 96(12), E2063–E2071.
Ni, Y., Zbuk, K. M., Sadler, T., Patocs, A., Lobo, G., Edelman, E., et al. (2008). Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. American Journal of Human Genetics, 83, 261–268.
Pilarski, R., Burt, R., Kohlman, W., Pho, L., Shannon, K. M., & Swisher, E. (2013). Cowden syndrome and the PTEN hamartoma tumor syndrome: Systematic review and revised diagnostic criteria. Journal of the National Cancer Institute, 105(21), 1607–1616.
Plamper, M., Schreiner, F., Gohlke, B., Kionke, J., Korsch, E., Kirkpatric, K. J., et al. (2018). Thyroid disease in children and adolescents with PTEN hamartoma tumor syndrome (PHTS). European Journal of Pediatrics, 177(3), 429–435.
Smith, J. M., Kirk, E. P., Theodosopoulos, G., Marshall, G. M., Walker, J., Rogers, M., Field, M., Brereton, J. J., & Marsh, D. J. (2002). Germline mutation of the tumour suppressor PTEN in Proteus syndrome. Journal of Medical Genetics, 39(12), 937–940.
Yehia, L., Ni, Y., & Eng, C. (2017). Germline TTN variants are enriched in PTEN-wildtype Bannayan-Riley-Ruvalcaba syndrome. NPJ Genomic Medicine, 2, 37.
Yehia, L., Ni, Y., Sesock, K., Niazi, F., Fletcher, B., Chen, H. J. L., LaFramboise, T., & Eng, C. (2018). Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations. PLoS Genetics, 14(4), e1007352.
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Pakbaz, S., Hodgson, A., Mete, O. (2020). PTEN Hamartoma Tumor Syndrome. In: van Krieken, J. (eds) Encyclopedia of Pathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-28845-1_5227-1
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DOI: https://doi.org/10.1007/978-3-319-28845-1_5227-1
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