Proteus syndrome review: molecular, clinical, and pathologic features

@article{Cohen2014ProteusSR,
  title={Proteus syndrome review: molecular, clinical, and pathologic features},
  author={M. Michael Cohen},
  journal={Clinical Genetics},
  year={2014},
  volume={85}
}
  • M. Cohen
  • Published 1 February 2014
  • Medicine
  • Clinical Genetics
Proteus syndrome is caused by an activating AKT1 mutation (c.49G>A, p.Glu17Lys). Many variable features are possible in this mosaic disorder, including: (i) disproportionate, asymmetric, and distorting overgrowth; (ii) bone abnormalities different from those observed in other disorders; (iii) a characteristic cerebriform connective tissue nevus made up of highly collagenized connective tissue; (iv) epidermal nevi in early life, consisting of acanthosis and hyperkeratosis; (v) vascular… 
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A new entity comprising different syndromes with phenotypic mutations in PIK3CA has been proposed, designated Pik3CA‐related overgrowth spectrum (PROS), with the aim of facilitating clinical management and establishing appropriate genetic study criteria.
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TLDR
Clinicians should maintain a high index of suspicion when examining patients with Proteus syndrome, because the presence of BRAF and KRASmutations suggests borderline tumors,10 but BRAFmutations were absent in the authors' patient.
Overgrowth syndromes with vascular anomalies.
  • F. Blei
  • Medicine
    Current problems in pediatric and adolescent health care
  • 2015
TLDR
These syndromes phenotypically are classified, including updated clinical criteria, radiologic features, evaluation, management issues, pathophysiology, and genetic information, including putative affected signaling pathway.
Neurological manifestations of Proteus syndrome – review of the literature.
TLDR
The neurological manifestations of Proteus syndrome are frequent and important hallmark of the disease, and the awareness of them among neurologists may increase efficacy of the syndrome management.
The Forgotten Phacomatoses: A Neuroimaging Review of Rare Neurocutaneous Disorders.
Phakomatoses, or neurocutaneous syndromes, are a heterogeneous group of rare genetic disorders that predominantly affect structures arising from the embryonic ectoderm, namely the skin, eye globe,
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma
TLDR
This is the first report showing the therapeutic effects of an AKT inhibitor on both benign and malignant tissues that harbor the same pathogenic AKT1 mutation, and showed that personalized medicine is feasible in ultra‐rare diseases.
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References

SHOWING 1-10 OF 46 REFERENCES
Proteus syndrome: Misdiagnosis with PTEN mutations
TLDR
The high frequency of misdiagnosis of Proteus syndrome by clinicians less familiar with the disorder is demonstrated and reported PTEN mutations, using the unhelpful and confounding clinical term ‘‘Proteuslike syndrome’’ are analyzed.
Radiologic manifestations of Proteus syndrome.
TLDR
Although the manifestations of Proteus syndrome are highly variable, accurate diagnosis is possible if standard diagnostic criteria are followed and if disease features are assessed in comparison with those found in similar syndromes.
Cutaneous manifestations of proteus syndrome: correlations with general clinical severity.
TLDR
Patients with Proteus syndrome exhibit a variable but defined assortment of cutaneous findings, consistent with the postulated mosaic basis for this syndrome.
The challenges of Proteus syndrome: diagnosis and management
TLDR
Effective management of Proteus syndrome requires knowledge of the wide array of manifestations and complications of the disorder and a team approach that includes the geneticist, surgeons, and other specialists.
Proteus syndrome: clinical evidence for somatic mosaicism and selective review.
  • M. Cohen
  • Medicine
    American journal of medical genetics
  • 1993
TLDR
Selective aspects of Proteus syndrome not previously reviewed are presented including: uncommon neoplasms; pulmonary and renal abnormalities; brain malformations; facial phenotype associated with seizures and severe mental deficiency; and types of abnormal growth in the craniofacial skeleton.
Proteus syndrome: An update
  • M. Cohen
  • Medicine, Biology
    American journal of medical genetics. Part C, Seminars in medical genetics
  • 2005
TLDR
Diagnostic criteria are emphasized because misdiagnosis of Proteus syndrome is common, and Somatic mosaicism, lethal in the nonmosaic state, is the best working hypothesis.
The multifaceted challenges of Proteus syndrome.
TLDR
The case of a 5-year-old patient who manifested a number of complications of Proteus syndrome, a rare and sporadic disorder that causes postnatal overgrowth of multiple tissues in a mosaic pattern, is presented.
A mosaic activating mutation in AKT1 associated with the Proteus syndrome.
TLDR
The Proteus syndrome is caused by a somatic activating mutation in AKT1, proving the hypothesis of somatic mosaicism and implicating activation of the PI3K-AKT pathway in the characteristic clinical findings of overgrowth and tumor susceptibility in this disorder.
Clinical differentiation between Proteus syndrome and hemihyperplasia: description of a distinct form of hemihyperplasia.
TLDR
It was found that imaging studies are very useful for the characterization of the syndrome and one finding was that splenic hyperplasia can be a manifestation of Proteus syndrome.
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.
TLDR
It is concluded that CLOVES is caused by postzygotic activating mutations in PIK3CA, which have been identified in cancer cells, in which they increase phosphoinositide-3-kinase activity.
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