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Proteus-like syndrome

MedGen UID:
356222
•Concept ID:
C1866398
•
Disease or Syndrome
Synonyms: Proteus Like Syndrome; Proteus-Like Syndrome; Syndrome, Proteus-Like
SNOMED CT: Proteus like syndrome (716862002); Cohen-Hayden syndrome (716862002)
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.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017571
OMIM®: 158350; 601728
Orphanet: ORPHA2969

Definition

Proteus like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease. The prevalence is unknown. The main clinical features include skeletal overgrowth, hamartomatous overgrowth of multiple tissues, cerebriform connective tissue nevi, vascular malformations and linear epidermal nevi. Mutations in the PTEN gene are found in 50% of Proteus-like syndrome cases, making them a part of the PTEN hamartoma syndrome group. [from SNOMEDCT_US]

Professional guidelines

PubMed

Novel PTEN germline mutation in a family with mild phenotype: difficulties in genetic counseling.
Busa T, Chabrol B, Perret O, Longy M, Philip N
Gene 2013 Jan 10;512(2):194-7. Epub 2012 Nov 2 doi: 10.1016/j.gene.2012.09.134. PMID: 23124040

Recent clinical studies

Etiology

Breast cancer risk and clinical implications for germline PTEN mutation carriers.
Ngeow J, Sesock K, Eng C
Breast Cancer Res Treat 2017 Aug;165(1):1-8. Epub 2015 Dec 23 doi: 10.1007/s10549-015-3665-z. PMID: 26700035
Cowden syndrome: what oncology nurses need to know about increased risk of developing certain cancers.
Beamer LC
Oncol Nurs Forum 2014 Sep;41(5):555-7. doi: 10.1188/14.ONF.555-557. PMID: 25158662
PTEN hamartoma tumor syndrome: an overview.
Hobert JA, Eng C
Genet Med 2009 Oct;11(10):687-94. doi: 10.1097/GIM.0b013e3181ac9aea. PMID: 19668082
Cowden syndrome.
Gustafson S, Zbuk KM, Scacheri C, Eng C
Semin Oncol 2007 Oct;34(5):428-34. doi: 10.1053/j.seminoncol.2007.07.009. PMID: 17920899
PTEN: one gene, many syndromes.
Eng C
Hum Mutat 2003 Sep;22(3):183-98. doi: 10.1002/humu.10257. PMID: 12938083

Diagnosis

Breast cancer risk and clinical implications for germline PTEN mutation carriers.
Ngeow J, Sesock K, Eng C
Breast Cancer Res Treat 2017 Aug;165(1):1-8. Epub 2015 Dec 23 doi: 10.1007/s10549-015-3665-z. PMID: 26700035
Cowden syndrome: what oncology nurses need to know about increased risk of developing certain cancers.
Beamer LC
Oncol Nurs Forum 2014 Sep;41(5):555-7. doi: 10.1188/14.ONF.555-557. PMID: 25158662
PTEN hamartoma tumor syndrome: an overview.
Hobert JA, Eng C
Genet Med 2009 Oct;11(10):687-94. doi: 10.1097/GIM.0b013e3181ac9aea. PMID: 19668082
Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome.
Orloff MS, Eng C
Oncogene 2008 Sep 18;27(41):5387-97. doi: 10.1038/onc.2008.237. PMID: 18794875
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.
Zhou XP, Marsh DJ, Hampel H, Mulliken JB, Gimm O, Eng C
Hum Mol Genet 2000 Mar 22;9(5):765-8. doi: 10.1093/hmg/9.5.765. PMID: 10749983

Therapy

Sirolimus treatment of a PTEN hamartoma tumor syndrome presenting with melena.
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

Prognosis

Breast cancer risk and clinical implications for germline PTEN mutation carriers.
Ngeow J, Sesock K, Eng C
Breast Cancer Res Treat 2017 Aug;165(1):1-8. Epub 2015 Dec 23 doi: 10.1007/s10549-015-3665-z. PMID: 26700035

Clinical prediction guides

Breast cancer risk and clinical implications for germline PTEN mutation carriers.
Ngeow J, Sesock K, Eng C
Breast Cancer Res Treat 2017 Aug;165(1):1-8. Epub 2015 Dec 23 doi: 10.1007/s10549-015-3665-z. PMID: 26700035

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