scholarly journals Overlapping Phenotypic Features of PTEN Hamartoma Tumor Syndrome and Birt-Hogg-Dubé Syndrome

2021 ◽  
Vol 108 (3) ◽  
Author(s):  
Divya Angra
Keyword(s):  
Pten Hamartoma Tumor Syndrome ◽  
Phenotypic Features

scholarly journals Considerations on Diagnosis and Surveillance Measures of PTEN Hamartoma Tumor Syndrome: Clinical and Genetic Study in a Series of Spanish Patients.

2021 ◽  
Author(s):  
Laura Pena-Couso ◽  
María Ercibengoa ◽  
Fátima Mercadillo ◽  
David Gómez-Sánchez ◽  
Lucía Inglada-Pérez ◽  
...  
Keyword(s):  
Genetic Characteristics ◽  
Gastrointestinal Polyposis ◽  
Pten Hamartoma Tumor Syndrome ◽  
New Genes ◽  
Whole Exome ◽  
Exon 1 ◽  
Phenotypic Features ◽  
Molecular Aspects ◽  
New Research ◽  
Generation Sequencing

Abstract Background: The limited knowledge about the PTEN hamartoma tumor syndrome (PHTS) makes its diagnosis a challenging task. We aimed to define the clinical and genetic characteristics of this syndrome in the Spanish population and to identify new genes potentially associated with the disease.Results: We reviewed the clinical data collected through a specific questionnaire in a series of 145 Spanish patients with a phenotypic features compatible with PHTS and performed molecular characterization through several approaches including next generation sequencing and whole exome sequencing (WES).Macrocephaly, mucocutaneous lesions, gastrointestinal polyposis and obesity are prevalent phenotypic features in PHTS and help predict the presence of a PTEN germline variant in our population. We also find that PHTS patients are at risk to develop cancer in childhood or adolescence. Furthermore, we observe a high frequency of variants in exon 1 of PTEN, which are associated with renal cancer and overexpression of KLLN and PTEN. Moreover, WES revealed variants in genes like NEDD4 that merit further research.Conclusions: This study expands previously reported findings in other PHTS population studies and makes new contributions regarding clinical and molecular aspects of PHTS, which are useful for translation to the clinic and for new research lines.

Prenatal diagnosis of rare form chromosomal pathology: double aneuploidy

2019 ◽  
Author(s):  
L.A. Khlevnaya, S.A. Malova, L.I. Mitusova
Keyword(s):  
Prenatal Diagnosis ◽  
Clinical Manifestation ◽  
Rare Form ◽  
Chromosomal Disease ◽  
Phenotypic Features ◽  
Double Aneuploidy

The article represents the double aneuploidy, a rare form of chromosome pathology. 6 cases of double aneuploidy were diagnosed prenatally and 1 case was diagnosed postnatal. A variety of ultrasound signs is shown in this chromosomal pathology. The prevalence of phenotypic features of the chromosomal disease, which has the greatest clinical manifestation, was noted.

A Case of Mosaicism with Fragile-X and XXY Components

1987 ◽  
Vol 150 (5) ◽  
pp. 700-702 ◽  
Author(s):  
Saumitra Deb ◽  
Valerie A. Cowie ◽  
Carol Timberlake
Keyword(s):  
Cell Lines ◽  
Fragile Site ◽  
Fragile X ◽  
Chromosomal Mosaicism ◽  
Mentally Handicapped ◽  
Phenotypic Features

The case of a 63-year-old severely mentally handicapped man is reported with chromosomal mosaicism. His karyotype was established as mosaic 46XY/47XXY with the fragile site present in a proportion of cells of both cell-lines. He showed phenotypic features which could be related both to the fragile-X and Klinefelter's syndromes.

scholarly journals Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations

Ophthalmology ◽  
2019 ◽  
Vol 126 (11) ◽  
pp. 1557-1566 ◽  
Author(s):  
Koji M. Nishiguchi ◽  
Yasuhiro Ikeda ◽  
Kosuke Fujita ◽  
Hiroshi Kunikata ◽  
Makoto Akiho ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Oguchi Disease ◽  
Phenotypic Features

scholarly journals Quantitative disease risk scores from EHR with applications to clinical risk stratification and genetic studies

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Danqing Xu ◽  
Chen Wang ◽  
Atlas Khan ◽  
Ning Shang ◽  
Zihuai He ◽  
...  
Keyword(s):  
Risk Stratification ◽  
Disease Risk ◽  
Association Studies ◽  
Large Datasets ◽  
Risk Scores ◽  
Sequencing Data ◽  
Case Definitions ◽  
Phenotypic Data ◽  
Clinical Risk ◽  
Phenotypic Features

AbstractLabeling clinical data from electronic health records (EHR) in health systems requires extensive knowledge of human expert, and painstaking review by clinicians. Furthermore, existing phenotyping algorithms are not uniformly applied across large datasets and can suffer from inconsistencies in case definitions across different algorithms. We describe here quantitative disease risk scores based on almost unsupervised methods that require minimal input from clinicians, can be applied to large datasets, and alleviate some of the main weaknesses of existing phenotyping algorithms. We show applications to phenotypic data on approximately 100,000 individuals in eMERGE, and focus on several complex diseases, including Chronic Kidney Disease, Coronary Artery Disease, Type 2 Diabetes, Heart Failure, and a few others. We demonstrate that relative to existing approaches, the proposed methods have higher prediction accuracy, can better identify phenotypic features relevant to the disease under consideration, can perform better at clinical risk stratification, and can identify undiagnosed cases based on phenotypic features available in the EHR. Using genetic data from the eMERGE-seq panel that includes sequencing data for 109 genes on 21,363 individuals from multiple ethnicities, we also show how the new quantitative disease risk scores help improve the power of genetic association studies relative to the standard use of disease phenotypes. The results demonstrate the effectiveness of quantitative disease risk scores derived from rich phenotypic EHR databases to provide a more meaningful characterization of clinical risk for diseases of interest beyond the prevalent binary (case-control) classification.

scholarly journals PTEN Hamartoma Tumor Syndrome/Cowden Syndrome: Genomics, Oncogenesis, and Imaging Review for Associated Lesions and Malignancy

Cancers ◽  
2021 ◽  
Vol 13 (13) ◽  
pp. 3120
Author(s):  
David D. Dragoo ◽  
Ahmed Taher ◽  
Vincenzo K. Wong ◽  
Ahmed Elsaiey ◽  
Nikita Consul ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Malignant Tumors ◽  
Cowden Syndrome ◽  
Benign Tumors ◽  
Imaging Findings ◽  
Pten Hamartoma Tumor Syndrome ◽  
Associated Lesions ◽  
Tumor Recognition ◽  
Integral Role ◽  
Early Tumor

PTEN hamartoma tumor syndrome/Cowden syndrome (CS) is a rare autosomal dominant syndrome containing a germline PTEN mutation that leads to the development of multisystem hamartomas and oncogenesis. Benign tumors such as Lhermitte–Duclos disease and malignant tumors involving the breast, thyroid, kidneys, and uterus are seen in CS. Radiologists have an integral role in the comanagement of CS patients. We present the associated imaging findings and imaging screening recommendations. Knowledge of the types of cancers commonly seen in CS and their imaging findings can aid in early tumor recognition during cancer screening to help ensure near-normal life spans in CS patients.

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