Challenges in the management of a patient with Cowden syndrome: case report and literature review

Melbarde-Gorkusa, Inga; Irmejs, Arvids; Berzina, Dace; Štrumfa, Ilze; Āboliņš, Arnis; Gardovskis, Andris; Subatniece, Signe; Trofimovics, Genadijs; Gardovskis, Jānis; Miklaševičs, Edvīns

doi:10.1186/1897-4287-10-5

Cited by 13 publications

(14 citation statements)

References 18 publications

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“…2 Due to the rarity of this disease, literature recommendation as to its proper treatments is still lacking. 1 Our patient had several manifestations of DC. As with this woman, that search medical attention because of the skin alterations, dermatologic findings are very important as a clue to DC, a disease that may potentially reveal internal malignancies.…”

Section: Discussionmentioning

confidence: 69%

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Meotti¹,

Pulga²,

Fernandes³

et al. 2013

An. Bras. Dermatol.

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Cowden's disease or multiple hamartoma syndrome is an autosomal dominant inherited disease and the main dermatological features are facial trichilemmomas (hamartomas of the follicular infundibula), oral fibroma and benign acral keratoses. The importance of this disease lays in the increased susceptibility to malignization of some lesions, especially breast, thyroid and genitourinary tract. Despite its varied phenotypic expression, this disease is generally unknown. Consequently, many cases are undiagnosed or diagnosis comes at a late stage, which reinforces the importance of an early investigation of the disease so the patient may have periodic check-ups to discover and treat malignancies.

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Section: Discussionmentioning

confidence: 69%

“…1,2 It is characterized by the presence of hamartomas in several tissues, some congenital abnormalities, besides carrying an increased risk for malignancies. 1 About 80% of the cases present with germline mutations, causing the inactivation of pathways regulated by suppressor gene PTEN , also present in other similar syndromes. 3 …”

Section: Discussionmentioning

confidence: 99%

Do you know this syndrome?

Meotti¹,

Pulga²,

Fernandes³

et al. 2013

An. Bras. Dermatol.

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“…With an incidence of 1:200,000, CS is an autosomal dominant disorder denoted by germline mutations in PTEN, a tumor suppressor gene [15,16]. Early diagnosis of CS is essential due to a lifetime risk of breast, thyroid, and endometrial cancer as high as 85%, 35%, and 28%, respectively [16]. The National Comprehensive Cancer Network has established guidelines regarding the management of Cowden Syndrome [17].…”

Section: Discussionmentioning

confidence: 99%

Diffuse intestinal ganglioneuromatosis in a child

Matthews

Adler

Arnold

et al. 2013

Journal of Pediatric Surgery

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A 7 year old male with a history of congenital neutropenia and growth hormone deficiency presented with abdominal pain, fevers, and diarrhea. Imaging and endoscopy revealed significant inflammation of the ascending colon with stenosis at the level of the hepatic flexure. A right hemicolectomy was performed, and pathologic findings were consistent with diffuse intestinal ganglioneuromatosis. Due to recurrent mass effect at the intestinal anastomotic site detected radiologically, a second intestinal resection was performed 7 months later. Genetic testing was negative for mutations in the RET protooncogene, NF1 and PTEN tumor suppressor genes. We report a case of diffuse intestinal ganglioneuromatosis in a child with congenital neutropenia.

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“…Of the remaining nine variants, four were possibly low abundance and three were active site variants (H93R, G129E, and R130L) known to be inactive without loss of abundance. The remaining two variants (D24G and R234Q) were distal to the active site and likely alter PTEN function by an unknown mechanism 37,38 . Thus, VAMP-seq-derived abundance scores, combined with structural knowledge of the PTEN active-site, reveal >90% of known PTEN pathogenic variants.…”

Section: New Potentially Pathogenic Variants In Pten Revealed By Abunmentioning

confidence: 99%

Multiplex Assessment of Protein Variant Abundance by Massively Parallel Sequencing

Matreyek

Stephany

Martin

et al. 2018

Preprint

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Determining the pathogenicity of human genetic variants is a critical challenge, and functional assessment is often the only option. Experimentally characterizing millions of possible missense variants in thousands of clinically important genes will likely require generalizable, scalable assays. Here we describe Variant Abundance by Massively Parallel Sequencing (VAMP-seq), which measures the effects of thousands of missense variants of a protein on intracellular abundance in a single experiment. We apply VAMP-seq to quantify the abundance of 7,595 single amino acid variants of two proteins, PTEN and TPMT, in which functional variants are clinically actionable. We identify 1,079 PTEN and 805 TPMT single amino acid variants that result in low protein abundance, and may be pathogenic or alter drug metabolism, respectively. We observe selection for low-abundance PTEN variants in cancer, and our abundance data suggest that a PTEN variant accounting for ~10% of PTEN missense variants in melanomas functions via a dominant negative mechanism. Finally, we demonstrate that VAMP-seq can be applied to other genes, highlighting its potential as a generalizable assay for characterizing missense variants.

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Challenges in the management of a patient with Cowden syndrome: case report and literature review

Cited by 13 publications

References 18 publications

Do you know this syndrome?

Do you know this syndrome?

Diffuse intestinal ganglioneuromatosis in a child

Multiplex Assessment of Protein Variant Abundance by Massively Parallel Sequencing

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