Colonic ganglioneuromatous polyposis and metastatic adenocarcinoma in the setting of Cowden syndrome: a case report and literature review

Trufant, Joshua; Greene, Laura; Cook, Deborah; McKinnon, Wendy; Greenblatt, Marc S.; Bosenberg, Marcus W.

doi:10.1016/j.humpath.2011.06.022

Cited by 37 publications

(35 citation statements)

References 15 publications

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“…There are varied gastrointestinal manifestations of PHTS as detailed in Table 1 [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17], of which upper and lower gastrointestinal tract (GIT) polyposis is most common. PHTS patients are reported to have a wide spectrum of polyp histologies throughout their upper and lower GIT [3,4], with many having more than a single histology [5].…”

Section: Discussionmentioning

confidence: 99%

“…Intestinal ganglioneuromatosis [11,12,[15][16][17] total risk score of 52 and estimated probability of greater than 99%. Despite meeting the diagnostic criteria, demonstrating gastrointestinal polyp histologies similar to PHTS and in retrospect, having extremely high probabilities of PTEN mutations, there was delayed diagnosis of PHTS for both patients, especially for the female patient.…”

Section: Gastrointestinal Feature Referencesmentioning

confidence: 99%

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PTEN Hamartoma Tumour Syndrome:Gastrointestinal Manifestations ofTwo Cases Diagnosed in Singapore

Cs¹,

Ctt²,

Pk³

et al. 2015

Hereditary Genet

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PTEN hamartoma tumour syndrome is associated with germline mutations in the tumour suppressor gene, PTEN (phosphatase and tensin homolog gene), leading to formation of hamartomas due to unregulated cellular proliferation. Two patients presented with complications of hamartomas, which subsequently revealed multiple polyposis of mixed histologies throughout their gastrointestinal tracts. There was no family history for PTEN hamartoma tumour syndrome and both were eventually detected to have de novo PTEN mutations. Despite fulfilling diagnostic criteria and having high probabilities of a PTEN mutation (computed using PTEN Cleveland Clinic score), there was delayed diagnosis of PTEN hamartoma tumour syndrome due to limited awareness amongst treating clinicians. Thus PTEN hamartoma tumour syndrome should still be considered as a differential in patients with similar gastrointestinal manifestations for early diagnosis and intervention.

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Section: Discussionmentioning

confidence: 99%

Section: Gastrointestinal Feature Referencesmentioning

confidence: 99%

PTEN Hamartoma Tumour Syndrome:Gastrointestinal Manifestations ofTwo Cases Diagnosed in Singapore

Cs¹,

Ctt²,

Pk³

et al. 2015

Hereditary Genet

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“…*Gastrointestinal involvement is predominantly in the form of hamartomatous colorectal polyps*. Other polyps such as lipomatous, fibromatous, hyperplastic inflammatory and adenomatous lesions have also been described [31]. Esophageal glycogenic acanthosis is present in 40% to 60% of patients with CS andshould be pathognomonic [31].…”

Section: Discussion and Literature Reviewmentioning

confidence: 99%

“…Other polyps such as lipomatous, fibromatous, hyperplastic inflammatory and adenomatous lesions have also been described [31]. Esophageal glycogenic acanthosis is present in 40% to 60% of patients with CS andshould be pathognomonic [31]. Until recently, it was reported that gastrointestinal involvement was not neoplastic.…”

Section: Discussion and Literature Reviewmentioning

confidence: 99%

Well differentiated thyroid tumor of unknown malignant potential (WDT UMP) associated with COWDEN syndrome

Junainah¹,

AlShanbari²,

Gandoura³

et al. 2014

J Histol Histopathol

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Cowden syndrome is a rare cancer predisposition syndrome inherited in an autosomal-dominant fashion. The syndrome is characterized by hamartomatous polyps that affect multiple organs: skin, mucous membranes, thyroid, breast, gastrointestinal tract, endometrium and brain. It is also associated with an increased risk of developing malignancy in many tissues but especially breast, thyroid and endometrium. Thyroid tumor is ranging from benign nodule to frank malignancy. We report a case of WDT UMP in 66 years old lady who has CS.

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“…Histologically, there may be confusion with juvenile polyps [Jass, 2008]. Stromal ganglion cells are seen frequently [Jass, 2008], and may be so abundant that the appearance is that of ganglioneuromas [Trufant et al, 2012;Ngeow et al, 2013;Ponz de Leon et al, 2013], but lesions in which autonomic nerves are predominant, giving a ganglioneuroma-like appearance seem to be exceptional . Instead, true intestinal ganglioneuromas are found in neurofibromatosis type 1 and multiple endocrine neoplasia type 1 [Ledwidge et al, 2007].…”

Section: Pten Hamartoma Tumor Syndrome(s) (Phts)mentioning

confidence: 99%

The growing complexity of the intestinal polyposis syndromes

Cordisco

Risio

Venesio

et al. 2013

American J of Med Genetics Pt A

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Familial adenomatous polyposis has been the first form of inherited intestinal polyposis to be recognized. For a long time it has been considered the main polyposis syndrome, associated with an easily recognizable phenotype, with a marginal role attributed to a few very rare hamartomatous conditions. More recently, it has been gradually demonstrated that the intestinal polyposes encompass a range of conditions within a wide spectrum of disease severity, polyp histology, and extraintestinal manifestations. A growing number of genes and phenotypes has been identified, and heterogeneity of somatic molecular pathways underlying epithelial transformation in different syndromes and associated tumors has been documented. Increasing knowledge on the molecular bases and more widespread use of genetic tests has shown phenotypic overlaps between conditions that were previously considered distinct, highlighting diagnostic difficulties. With the advent of next generation sequencing, the diagnosis and the classification of these syndromes will be progressively based more on genetic testing results. However, the phenotypic variability documented among patients with mutations in the same genes cannot be fully explained by different expressivity, indicating a role for as yet unknown modifying factors. Until the latter will be identified, the management of patients with polyposis syndromes should be guided by both clinical and genetic findings. © 2013 Wiley Periodicals, Inc.

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Colonic ganglioneuromatous polyposis and metastatic adenocarcinoma in the setting of Cowden syndrome: a case report and literature review

Cited by 37 publications

References 15 publications

PTEN Hamartoma Tumour Syndrome:Gastrointestinal Manifestations ofTwo Cases Diagnosed in Singapore

PTEN Hamartoma Tumour Syndrome:Gastrointestinal Manifestations ofTwo Cases Diagnosed in Singapore

Well differentiated thyroid tumor of unknown malignant potential (WDT UMP) associated with COWDEN syndrome

The growing complexity of the intestinal polyposis syndromes

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