Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features

Pilarski, Robert; Stephens, Julie; Noss, Ryan; Fisher, James L.; Prior, Thomas W.

doi:10.1136/jmg.2011.088807

Cited by 141 publications

(113 citation statements)

References 34 publications

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“…[24][25][26][27][28] Clinical diagnostic criteria involve combinations of major and minor criteria 29 ( Table 4). We recommend referral for anyone meeting any three criteria from the major or minor diagnostic criteria.…”

Section: Cowden Syndrome Also Known As Pten Hamartoma Tumor Syndromementioning

confidence: 99%

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment

Hampel

Bennett

Buchanan

et al. 2015

Genetics in Medicine

468

326

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Cancer genetic consultation services include the evaluation of patients' personal and family history for concerning features of hereditary cancer predisposition syndromes, development of a differential diagnosis for one or more possible hereditary cancer syndromes, genetic testing if indicated and available, recommendations for management, cancer surveillance and prevention, and information regarding genetic counseling and genetic testing for at-risk relatives. This counseling is informed by the genetic Cancer genetic consultation is an important aspect of the care of individuals at increased risk of a hereditary cancer syndrome. Yet several patient, clinician, and system-level barriers hinder identification of individuals appropriate for cancer genetics referral. Thus, the purpose of this practice guideline is to present a single set of comprehensive personal and family history criteria to facilitate identification and maximize appropriate referral of at-risk individuals for cancer genetic consultation. To develop this guideline, a literature search for hereditary cancer susceptibility syndromes was conducted using PubMed. In addition, GeneReviews and the National Comprehensive Cancer Network guidelines were reviewed when applicable. When conflicting guidelines were identified, the evidence was ranked as follows: position papers from national and professional organizations ranked highest, followed by consortium guidelines, and then peerreviewed publications from single institutions. The criteria for cancer genetic consultation referral are provided in two formats: (i) tables that list the tumor type along with the criteria that, if met, would warrant a referral for a cancer genetic consultation and (ii) an alphabetical list of the syndromes, including a brief summary of each and the rationale for the referral criteria that were selected. Consider referral for a cancer genetic consultation if your patient or any of their firstdegree relatives meet any of these referral criteria.

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Section: Cowden Syndrome Also Known As Pten Hamartoma Tumor Syndromementioning

confidence: 99%

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment

Hampel

Bennett

Buchanan

et al. 2015

Genetics in Medicine

468

326

View full text Add to dashboard Cite

show abstract

“…Patients with Cowden syndrome also have an increased risk of breast, endometrial, thyroid, kidney, and colorectal cancers. [8] In Bannayan-Riley-Ruvalcaba syndrome, in addition to hamartomas, patients exhibit multiple subcutaneous lipomas and macrocephaly. Genitourinary manifestations include penile lentigines (pigmented macules).…”

Section: Discussionmentioning

confidence: 99%

Robotic-assisted laparoscopic partial cystectomy for symptomatic urachal hamartoma

Shepler

Zuckerman

Troyer

et al. 2016

Turkish Journal of Urology

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We report a case of an urachal hamartoma in a 30-year-old African American woman. The urachal lesion was excised with a robotic-assisted laparoscopic partial cystectomy. Pathologic analysis revealed cysts, smooth muscle, and ciliated epithelium consistent with a hamartoma. The patient recovered without complication. This case highlights an unusual pathology that is infrequently reported following urachal remnant excision.

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“…Gastrointestinal polyps, also typically found in CS, are usually asymptomatic and can occur anywhere in the tract, but mostly at the colon (13,14). Cowden syndrome patients are at increased risk of developing breast, thyroid, and endometrium cancer.…”

Section: Discussionmentioning

confidence: 99%

“…PTEN hamar toma tumor syndromes are inherited in an autosomal dominant manner across all subtypes. PTEN is a tumor suppressor gene with dual speci ficity phosphatase activity, and the Nterminal domain contains the phosphatase domain active site, where most PTEN mutations occur (13). PTEN negatively regulates the phosphatidylinositol 3kinaseAKT and mammalian target of rapamycin (mTOR) signalling pathways, which are critical for cell proliferation, cell cycle progression, and apoptosis.…”

Section: Discussionmentioning

confidence: 99%

New mutation in the PTEN gene in a Brazilian patient with Cowden's syndrome

Lima

Soares

Danilovic

et al. 2012

Arq Bras Endocrinol Metab

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SUMMARYCowden syndrome is characterized by hamartomatous polyps, trichilemmomas, increased risk of developing neoplasms, and is associated with germline mutations in the PTEN gene. We searched for germline mutations in PTEN in a 49-year-old female patient who presented trichilemmoma with previous history of breast carcinoma, and thyroidectomy for a thyroid nodule. We also searched for somatic mutations in breast and thyroid tumoral tissues. DNA was extrac ted from peripheral leukocytes, paraffin samples of breast carcinoma, and cytological smears of thyroid nodule fine-needle aspiration biopsy, whose final histopathological diagnosis was adenomatous goiter. PTEN was amplified and sequenced. We identified a novel mutation, due to a T>A inversion at position 159 and A>T inversion at position 160, leading to valine-to-aspartic acid substitution at position 53. The p.Val53Asp was also found in homozygous state in samples obtained from adenocarcinoma breast and thyroid biopsy, denoting loss of heterozygosity. Here, we demonstrated a novel germline mutation in PTEN, as well as somatic loss of the wild-type PTEN allele in breast and thyroid tumors in a patient with Cowden syndrome. Arq Bras Endocrinol Metab. 2012;56(8):592-6 SUMÁRIO A síndrome de Cowden é caracterizada por pólipos de hamartoma, triquelomomas, risco aumentado em desenvolver neoplasias e está associada a mutações germinativas no gene PTEN. Procuramos por mutação germinativa no PTEN de uma paciente de 49 anos que apresentou triquilemomas com história pregressa de carcinoma de mama e realizou tireoidectomia devido a nódulo de tireoide. Investigamos também uma mutação somática em tecidos tumorais de mama e tireoide. O DNA foi extraído de leucócitos periféricos, de amostras de parafina de carcinoma de mama e exame citológico de nódulo de tireoide obtido de biópsia por agulha fina, cujo diagnóstico histopatológico foi de bócio adenomatoso. O PTEN foi amplificado e sequenciado. Identificou-se uma nova mutação em decorrência de uma inversão de T>A na posição 159 e A>T na posição 160, levando à substituição de valina para ácido aspártico na posição 53. A mutação p.Val53Asp também foi encontrada em estado homozigoto em amostras obtidas do adenocarcinoma de mama e da biópsia de nódulo tireoidiano, denotando perda de heterozigosidade. Portanto, demonstramos uma mutação germinativa no PTEN e também a perda somática do alelo selvagem PTEN no tumor de mama e da tireoide de uma paciente com síndrome de Cowden. Arq Bras Endocrinol Metab. 2012;56(8):592-6

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Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features

Cited by 141 publications

References 34 publications

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment

Robotic-assisted laparoscopic partial cystectomy for symptomatic urachal hamartoma

New mutation in the PTEN gene in a Brazilian patient with Cowden's syndrome

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