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PTEN hamartoma tumor syndrome(PHTS)

MedGen UID:
368366
Concept ID:
C1959582
Disease or Syndrome
Synonyms: PHTS; PTEN Hamartomatous Tumour Syndrome; PTEN-related disorders
SNOMED CT: PTEN hamartoma tumor syndrome (722859001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): PTEN (10q23.31)
Related gene: AKT1
 
Monarch Initiative: MONDO:0017623
OMIM®: 158350
Orphanet: ORPHA306498

Disease characteristics

Excerpted from the GeneReview: PTEN Hamartoma Tumor Syndrome
The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and PTEN-related Proteus-like syndrome. CS is a multiple hamartoma syndrome with a high risk for benign and malignant tumors of the thyroid, breast, kidney, 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 lifetime risk for renal cell cancer (predominantly of papillary histology) is 34%. The risk for endometrial cancer 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]
Authors:
Lamis Yehia  |  Charis Eng   view full author information

Professional guidelines

PubMed

Hendricks LAJ, Hoogerbrugge N, Venselaar H, Aretz S, Spier I, Legius E, Brems H, de Putter R, Claes KBM, Evans DG, Woodward ER, Genuardi M, Brugnoletti F, van Ierland Y, Dijke K, Tham E, Tesi B, Schuurs-Hoeijmakers JHM, Branchaud M, Salvador H, Jahn A, Schnaiter S, Anastasiadou VC, Brunet J, Oliveira C, Roht L, Blatnik A, Irmejs A; PTEN Study Group, Mensenkamp AR, Vos JR
Eur J Med Genet 2022 Dec;65(12):104632. Epub 2022 Oct 18 doi: 10.1016/j.ejmg.2022.104632. PMID: 36270489
Mighell TL, Evans-Dutson S, O'Roak BJ
Am J Hum Genet 2018 May 3;102(5):943-955. Epub 2018 Apr 26 doi: 10.1016/j.ajhg.2018.03.018. PMID: 29706350Free 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. PMID: 24136893

Suggested Reading

Recent clinical studies

Etiology

D'Ermo G, Genuardi M
Best Pract Res Clin Gastroenterol 2022 Jun-Aug;58-59:101792. Epub 2022 Mar 17 doi: 10.1016/j.bpg.2022.101792. PMID: 35988965
Lee YR, Yehia L, Kishikawa T, Ni Y, Leach B, Zhang J, Panch N, Liu J, Wei W, Eng C, Pandolfi PP
N Engl J Med 2020 May 28;382(22):2103-2116. doi: 10.1056/NEJMoa1914919. PMID: 32459922Free PMC Article
Yehia L, Keel E, Eng C
Annu Rev Med 2020 Jan 27;71:103-116. Epub 2019 Aug 21 doi: 10.1146/annurev-med-052218-125823. PMID: 31433956
Yehia L, Ni Y, Sesock K, Niazi F, Fletcher B, Chen HJL, LaFramboise T, Eng C
PLoS Genet 2018 Apr;14(4):e1007352. Epub 2018 Apr 23 doi: 10.1371/journal.pgen.1007352. PMID: 29684080Free PMC Article
Mester J, Charis E
Handb Clin Neurol 2015;132:129-37. doi: 10.1016/B978-0-444-62702-5.00009-3. PMID: 26564076

Diagnosis

D'Ermo G, Genuardi M
Best Pract Res Clin Gastroenterol 2022 Jun-Aug;58-59:101792. Epub 2022 Mar 17 doi: 10.1016/j.bpg.2022.101792. PMID: 35988965
Lee YR, Yehia L, Kishikawa T, Ni Y, Leach B, Zhang J, Panch N, Liu J, Wei W, Eng C, Pandolfi PP
N Engl J Med 2020 May 28;382(22):2103-2116. doi: 10.1056/NEJMoa1914919. PMID: 32459922Free PMC Article
Yehia L, Keel E, Eng C
Annu Rev Med 2020 Jan 27;71:103-116. Epub 2019 Aug 21 doi: 10.1146/annurev-med-052218-125823. PMID: 31433956
Mester J, Charis E
Handb Clin Neurol 2015;132:129-37. doi: 10.1016/B978-0-444-62702-5.00009-3. PMID: 26564076
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. PMID: 24136893

Therapy

Şahin GE, Hoşnut FÖ, Yeşil Ş, Lafcı NG, Gül AE, Şahin G
Turk J Pediatr 2022;64(4):766-774. doi: 10.24953/turkjped.2021.5330. PMID: 36082652
Rodón J, Funchain P, Laetsch TW, Arkenau HT, Hervieu A, Singer CF, Murciano-Goroff YR, Chawla SP, Anthony K, Yamamiya I, Liu M, Halim AB, Benhadji KA, Takahashi O, Delaloge S
Future Oncol 2022 Sep;18(30):3377-3387. Epub 2022 Aug 30 doi: 10.2217/fon-2022-0305. PMID: 36039910Free PMC Article
Heald B, Mokhtary S, Nielsen SM, Rojahn S, Yang S, Michalski ST, Esplin ED
Gynecol Oncol 2022 Aug;166(2):344-350. Epub 2022 Jun 9 doi: 10.1016/j.ygyno.2022.05.023. PMID: 35691755
Srivastava S, Jo B, Zhang B, Frazier T, Gallagher AS, Peck F, Levin AR, Mondal S, Li Z, Filip-Dhima R, Geisel G, Dies KA, Diplock A, Eng C, Hanna R, Sahin M, Hardan A; Developmental Synaptopathies Consortium
Hum Mol Genet 2022 Oct 10;31(20):3393-3404. doi: 10.1093/hmg/ddac111. PMID: 35594551Free PMC Article
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. PMID: 24366516

Prognosis

Patil P, Pencheva BB, Patil VM, Fangusaro J
Neurotherapeutics 2022 Oct;19(6):1752-1771. Epub 2022 Sep 2 doi: 10.1007/s13311-022-01277-w. PMID: 36056180Free PMC Article
Yehia L, Keel E, Eng C
Annu Rev Med 2020 Jan 27;71:103-116. Epub 2019 Aug 21 doi: 10.1146/annurev-med-052218-125823. PMID: 31433956
Byrd V, Getz T, Padmanabhan R, Arora H, Eng C
Endocr Relat Cancer 2018 Mar;25(3):233-243. Epub 2017 Dec 12 doi: 10.1530/ERC-17-0442. PMID: 29233840Free PMC Article
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
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. PMID: 21194675Free PMC Article

Clinical prediction guides

Hendricks LAJ, Hoogerbrugge N, Venselaar H, Aretz S, Spier I, Legius E, Brems H, de Putter R, Claes KBM, Evans DG, Woodward ER, Genuardi M, Brugnoletti F, van Ierland Y, Dijke K, Tham E, Tesi B, Schuurs-Hoeijmakers JHM, Branchaud M, Salvador H, Jahn A, Schnaiter S, Anastasiadou VC, Brunet J, Oliveira C, Roht L, Blatnik A, Irmejs A; PTEN Study Group, Mensenkamp AR, Vos JR
Eur J Med Genet 2022 Dec;65(12):104632. Epub 2022 Oct 18 doi: 10.1016/j.ejmg.2022.104632. PMID: 36270489
D'Ermo G, Genuardi M
Best Pract Res Clin Gastroenterol 2022 Jun-Aug;58-59:101792. Epub 2022 Mar 17 doi: 10.1016/j.bpg.2022.101792. PMID: 35988965
Shiohama T, Levman J, Vasung L, Takahashi E
Am J Med Genet A 2020 May;182(5):1117-1129. Epub 2020 Mar 12 doi: 10.1002/ajmg.a.61532. PMID: 32162846Free PMC Article
Mighell TL, Evans-Dutson S, O'Roak BJ
Am J Hum Genet 2018 May 3;102(5):943-955. Epub 2018 Apr 26 doi: 10.1016/j.ajhg.2018.03.018. PMID: 29706350Free PMC Article
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. PMID: 21194675Free PMC Article

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. PMID: 24136893

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