How to recognize Cowden syndrome: A novel PTEN mutation description

2017 ◽  
Vol 78 (3) ◽  
pp. 188-190 ◽  
Author(s):  
Pauline Delannoy ◽  
François Guillaume Debray ◽  
Alain Verloes ◽  
Albert Beckers ◽  
Hernan Valdes-Socin
Keyword(s):  
Cowden Syndrome ◽  
Pten Mutation

Bariatric Surgery for Cowden Syndrome with PTEN Mutation: a Case Report

2021 ◽  
Author(s):  
Han Na Jang ◽  
Sa Hong Kim ◽  
Young Min Cho ◽  
Do Joong Park
Keyword(s):  
Bariatric Surgery ◽  
Case Report ◽  
Cowden Syndrome ◽  
Pten Mutation

PTEN mutation in a family with Cowden syndrome and autism

2001 ◽  
Vol 105 (6) ◽  
pp. 521-524 ◽  
Author(s):  
Aleide Goffin ◽  
Lies H. Hoefsloot ◽  
Ermanno Bosgoed ◽  
Ann Swillen ◽  
Jean-Pierre Fryns
Keyword(s):  
Cowden Syndrome ◽  
Pten Mutation

First Report of Ovarian Dysgerminoma in Cowden Syndrome with Germline PTEN Mutation and PTEN-related 10q Loss of Tumor Heterozygosity

2008 ◽  
Vol 32 (8) ◽  
pp. 1258-1264 ◽  
Author(s):  
Mee-Yon Cho ◽  
Hyun Soo Kim ◽  
Charis Eng ◽  
Dae Sung Kim ◽  
Seong Joon Kang ◽  
...  
Keyword(s):  
Cowden Syndrome ◽  
First Report ◽  
Pten Mutation ◽  
Ovarian Dysgerminoma

scholarly journals Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency

Oncoscience ◽  
2016 ◽  
Vol 3 (5-6) ◽  
pp. 149-155 ◽  
Author(s):  
Eduard Yakubov ◽  
Ali Ghoochani ◽  
Rolf Buslei ◽  
Michael Buchfelder ◽  
Ilker Y. Eyüpoglu ◽  
...  
Keyword(s):  
Cowden Syndrome ◽  
Pten Mutation

scholarly journals Novel PTEN Mutation in a Patient with Cowden Syndrome and Osteosarcoma

2016 ◽  
Vol 146 (suppl_1) ◽  
Author(s):  
Christian Lopez ◽  
Domenico Coppola ◽  
Luis Pena
Keyword(s):  
Cowden Syndrome ◽  
Pten Mutation

Use of PTEN protein dosage to predict for underlying germ-line PTEN mutations among patients presenting with thyroid cancer and Cowden-like phenotypes.

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. 1508-1508
Author(s):  
Joanne Y. Y. Ngeow ◽  
Xin He ◽  
Jessica Mester ◽  
Deepa Radhakrishnan ◽  
Junying Lei ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Germ Line ◽  
Cowden Syndrome ◽  
Pten Protein ◽  
Protein Levels ◽  
Variants Of Unknown Significance ◽  
Pten Mutation ◽  
Increased Risk ◽  
Unknown Significance ◽  
Cost Efficient

1508 Background: Thyroid cancer is a major component of Cowden Syndrome (CS), a heritable syndrome characterized also by breast, uterine and kidney cancers. CS patients with an underlying germline PTEN mutation have a 70-fold increased risk of developing epithelial thyroid cancer. In contrast, <1% of sporadic epithelial thyroid cancer harbor a germline PTEN mutation. Thus, cost-efficient markers capable of shortlisting thyroid cancers for CS genetic testing would be clinically useful. Here, we analyzed the relationship of patient PTEN protein levels in predicting the presence of germline PTEN mutations. Methods: We conducted a 5-year, multi-center prospective study of 2792 CS and CS-like patients, all of whom had comprehensive PTEN analysis done. Analysis of PTEN and downstream proteins by immunoblotting was performed on total protein lysates from patient-derived lymphoblast lines. We compared PTEN protein expression levels between patients with pathogenic PTEN mutations (PTENmut+), and those with variants of unknown significance (VUS) or wildtype PTEN. PTEN immunohistochemistry (IHC) was performed on available thyroid samples. Results: Of 2792 CS/CS-like patients, 722 had thyroid cancer. PTEN germline pathogenic mutations were present in 36/722 (5%) patients. PTENmut+ cases presented at an earlier age (35 vs 42 years; p=0.02). PTEN frameshift and truncation mutations accounted for 55% of mutations. 95% (19/20) of PTENmut+ patients had blood-PTEN protein levels in the lowest quartile as compared to 27% (90/330) of PTEN wildtype/PTEN VUS patients (p<0.001). Low blood-PTEN levels predicted for PTENmut+ cases with a 99.6 % NPV (95%CI 97.7- 99.9) and a positive test likelihood ratio of 3.5 (95%CI 2.8-4.3). Affected thyroid tissues (n=22) from PTENmut+ cases showed loss of PTEN protein by IHC, correlating with patient blood PTEN levels (r2=0.30, p=0.016). Conclusions: Our study shows that PTEN protein dosage could serve as a molecular correlate predicting for germline PTEN mutation in CS and CS-like presentations of thyroid cancer. The clinical utility of PTEN IHC in identifying thyroid cancer patients for germline PTEN testing should be further explored.

GI polyposis and glycogenic acanthosis of the esophagus associated with PTEN mutation positive Cowden syndrome in the absence of cutaneous manifestations

2003 ◽  
Vol 98 (6) ◽  
pp. 1429-1434 ◽  
Author(s):  
Thomas J. McGarrity ◽  
Maria J. Wagner Baker ◽  
Francesca M. Ruggiero ◽  
Diane M. Thiboutot ◽  
Heather Hampel ◽  
...  
Keyword(s):  
Cowden Syndrome ◽  
Cutaneous Manifestations ◽  
Pten Mutation

scholarly journals A Novel PTEN Mutation in a Korean Patient with Cowden Syndrome and Vascular Anomalies

2011 ◽  
Vol 91 (1) ◽  
pp. 88-90 ◽  
Author(s):  
B Bae ◽  
H Kim ◽  
S Lee ◽  
J Choi ◽  
C Hwang ◽  
...  
Keyword(s):  
Cowden Syndrome ◽  
Vascular Anomalies ◽  
Korean Patient ◽  
Pten Mutation

A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing

2013 ◽  
Vol 15 (12) ◽  
pp. 1004-1007 ◽  
Author(s):  
Colin C. Pritchard ◽  
Christina Smith ◽  
Tatyana Marushchak ◽  
Karen Koehler ◽  
Heidi Holmes ◽  
...  
Keyword(s):  
Deep Sequencing ◽  
Cowden Syndrome ◽  
Pten Mutation
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