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PTEN hamartoma tumor syndrome(PHTS)

MedGen UID:
368366
Concept ID:
C1959582
Neoplastic Process
Synonyms: PHTS; PTEN Hamartoma Tumor Syndrome (PHTS); PTEN Hamartomatous Tumour Syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene: PTEN
Cytogenetic location: 10q23.31
Orphanet: ORPHA306498

Disease characteristics

Excerpted from the GeneReview: PTEN Hamartoma Tumor Syndrome (PHTS)
The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and Proteus-like syndrome. CS is a multiple hamartoma syndrome with a high risk for benign and malignant tumors of the thyroid, breast, and endometrium. Affected individuals usually have macrocephaly, trichilemmomas, and papillomatous papules, and present by the late 20s. The lifetime risk of developing breast cancer is 85%, with an average age of diagnosis between 38 and 46 years. The lifetime risk for thyroid cancer (usually follicular, rarely papillary, but never medullary thyroid cancer) is approximately 35%. The risk for endometrial cancer, although not well defined, may approach 28%. BRRS is a congenital disorder characterized by macrocephaly, intestinal hamartomatous polyposis, lipomas, and pigmented macules of the glans penis. PS is a complex, highly variable disorder involving congenital malformations and hamartomatous overgrowth of multiple tissues, as well as connective tissue nevi, epidermal nevi, and hyperostoses. Proteus-like syndrome is undefined but refers to individuals with significant clinical features of PS who do not meet the diagnostic criteria for PS. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Charis Eng   view full author information

Professional guidelines

PubMed

Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. [Epub ahead of print] PMID: 23788249Free PMC Article
Saslow D, Boetes C, Burke W, Harms S, Leach MO, Lehman CD, Morris E, Pisano E, Schnall M, Sener S, Smith RA, Warner E, Yaffe M, Andrews KS, Russell CA; American Cancer Society Breast Cancer Advisory Group
CA Cancer J Clin 2007 Mar-Apr;57(2):75-89. PMID: 17392385

Recent clinical studies

Etiology

Stanich PP, Pilarski R, Rock J, Frankel WL, El-Dika S, Meyer MM
World J Gastroenterol 2014 Feb 21;20(7):1833-8. doi: 10.3748/wjg.v20.i7.1833. PMID: 24587660Free PMC Article
Hopman SM, Van Rijn RR, Eng C, Bras J, Alders M, van der Horst CM, Hennekam RC, Merks JH
Am J Med Genet A 2012 Jul;158A(7):1719-23. Epub 2012 May 24 doi: 10.1002/ajmg.a.35406. [Epub ahead of print] PMID: 22628360
Mester J, Eng C
Genet Med 2012 Sep;14(9):819-22. Epub 2012 May 17 doi: 10.1038/gim.2012.51. [Epub ahead of print] PMID: 22595938Free PMC Article
Galatola M, Paparo L, Duraturo F, Turano M, Rossi GB, Izzo P, De Rosa M
BMC Med Genet 2012 Apr 20;13:28. doi: 10.1186/1471-2350-13-28. [Epub ahead of print] PMID: 22520842Free PMC Article
Mester JL, Zhou M, Prescott N, Eng C
Urology 2012 May;79(5):1187.e1-7. Epub 2012 Mar 3 doi: 10.1016/j.urology.2011.12.025. [Epub ahead of print] PMID: 22381246Free PMC Article

Diagnosis

Stanich PP, Pilarski R, Rock J, Frankel WL, El-Dika S, Meyer MM
World J Gastroenterol 2014 Feb 21;20(7):1833-8. doi: 10.3748/wjg.v20.i7.1833. PMID: 24587660Free PMC Article
Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E
J Natl Cancer Inst 2013 Nov 6;105(21):1607-16. Epub 2013 Oct 17 doi: 10.1093/jnci/djt277. [Epub ahead of print] PMID: 24136893
Hopman SM, Van Rijn RR, Eng C, Bras J, Alders M, van der Horst CM, Hennekam RC, Merks JH
Am J Med Genet A 2012 Jul;158A(7):1719-23. Epub 2012 May 24 doi: 10.1002/ajmg.a.35406. [Epub ahead of print] PMID: 22628360
Mester J, Eng C
Genet Med 2012 Sep;14(9):819-22. Epub 2012 May 17 doi: 10.1038/gim.2012.51. [Epub ahead of print] PMID: 22595938Free PMC Article
Mester JL, Zhou M, Prescott N, Eng C
Urology 2012 May;79(5):1187.e1-7. Epub 2012 Mar 3 doi: 10.1016/j.urology.2011.12.025. [Epub ahead of print] PMID: 22381246Free PMC Article

Therapy

Schmid GL, Kässner F, Uhlig HH, Körner A, Kratzsch J, Händel N, Zepp FP, Kowalzik F, Laner A, Starke S, Wilhelm FK, Schuster S, Viehweger A, Hirsch W, Kiess W, Garten A
Pediatr Res 2014 Apr;75(4):527-34. Epub 2013 Dec 23 doi: 10.1038/pr.2013.246. [Epub ahead of print] PMID: 24366516
Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA, Milas K, Pederson H, Remzi B, Orloff MS, Eng C
Am J Hum Genet 2011 Jan 7;88(1):42-56. Epub 2010 Dec 30 doi: 10.1016/j.ajhg.2010.11.013. [Epub ahead of print] PMID: 21194675Free PMC Article
Marsh DJ, Trahair TN, Martin JL, Chee WY, Walker J, Kirk EP, Baxter RC, Marshall GM
Nat Clin Pract Oncol 2008 Jun;5(6):357-61. Epub 2008 Apr 22 doi: 10.1038/ncponc1112. [Epub ahead of print] PMID: 18431376

Prognosis

Stanich PP, Pilarski R, Rock J, Frankel WL, El-Dika S, Meyer MM
World J Gastroenterol 2014 Feb 21;20(7):1833-8. doi: 10.3748/wjg.v20.i7.1833. PMID: 24587660Free PMC Article
Hopman SM, Van Rijn RR, Eng C, Bras J, Alders M, van der Horst CM, Hennekam RC, Merks JH
Am J Med Genet A 2012 Jul;158A(7):1719-23. Epub 2012 May 24 doi: 10.1002/ajmg.a.35406. [Epub ahead of print] PMID: 22628360
Shiovitz S, Everett J, Huang SC, Orloff MS, Eng C, Gruber SB
Breast Cancer Res Treat 2010 Nov;124(2):459-65. Epub 2010 Mar 27 doi: 10.1007/s10549-010-0839-6. [Epub ahead of print] PMID: 20349131
Jenny B, Radovanovic I, Haenggeli CA, Delavelle J, Rüfenacht D, Kaelin A, Blouin JL, Bottani A, Rilliet B
J Neurosurg 2007 Oct;107(4 Suppl):307-13. doi: 10.3171/PED-07/10/307. PMID: 17941496
Schaffer JV, Kamino H, Witkiewicz A, McNiff JM, Orlow SJ
Arch Dermatol 2006 May;142(5):625-32. doi: 10.1001/archderm.142.5.625. PMID: 16702501

Clinical prediction guides

Galatola M, Miele E, Strisciuglio C, Paparo L, Rega D, Delrio P, Duraturo F, Martinelli M, Rossi GB, Staiano A, Izzo P, De Rosa M
World J Gastroenterol 2013 Dec 14;19(46):8659-70. doi: 10.3748/wjg.v19.i46.8659. PMID: 24379584Free PMC Article
He X, Arrotta N, Radhakrishnan D, Wang Y, Romigh T, Eng C
Cancer Res 2013 May 15;73(10):3029-40. Epub 2013 Mar 8 doi: 10.1158/0008-5472.CAN-12-3811. [Epub ahead of print] PMID: 23475934Free PMC Article
Venturini G, Moulin AP, Deprez M, Uffer S, Bottani A, Zografos L, Rivolta C
Ophthalmology 2012 Apr;119(4):857-64. Epub 2012 Jan 26 doi: 10.1016/j.ophtha.2011.09.057. [Epub ahead of print] PMID: 22281088
Shiovitz S, Everett J, Huang SC, Orloff MS, Eng C, Gruber SB
Breast Cancer Res Treat 2010 Nov;124(2):459-65. Epub 2010 Mar 27 doi: 10.1007/s10549-010-0839-6. [Epub ahead of print] PMID: 20349131
Schaffer JV, Kamino H, Witkiewicz A, McNiff JM, Orlow SJ
Arch Dermatol 2006 May;142(5):625-32. doi: 10.1001/archderm.142.5.625. PMID: 16702501

Recent systematic reviews

Stanich PP, Pilarski R, Rock J, Frankel WL, El-Dika S, Meyer MM
World J Gastroenterol 2014 Feb 21;20(7):1833-8. doi: 10.3748/wjg.v20.i7.1833. PMID: 24587660Free PMC Article
Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E
J Natl Cancer Inst 2013 Nov 6;105(21):1607-16. Epub 2013 Oct 17 doi: 10.1093/jnci/djt277. [Epub ahead of print] PMID: 24136893

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