A Challenging Diagnosis: PTEN Hamartoma Tumor Syndrome Presenting as Isolated Soft-tissue Vascular Anomalies

Genetic Testing for PTEN Hamartoma Tumor Syndrome

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The microbiome in PTEN hamartoma tumor syndrome

Germline PTEN mutations defining PTEN hamartoma tumor syndrome (PHTS) confer heritable predisposition to breast, endometrial, thyroid and other cancers with known age-related risks, but it remains impossible to predict if any individual will develop cancer. In the general population, gut microbial dysbiosis has been linked to cancer, yet is unclear whether these are associated in PHTS patients....

AKT activation promotes PTEN hamartoma tumor syndrome-associated cataract development.

Mutations in the human phosphatase and tensin homolog (PTEN) gene cause PTEN hamartoma tumor syndrome (PHTS), which includes cataract development among its diverse clinical pathologies. Currently, it is not known whether cataract formation in PHTS patients is secondary to other systemic problems, or the result of the loss of a critical function of PTEN within the lens. We generated a mouse line...

Askin Tumor Presenting as Superior Vena Cava Syndrome

Cowden syndrome and the PTEN hamartoma tumor syndrome: how to define rare genetic syndromes.

Do the results from Paoletti et al. (6) justify PFS as an endpoint for trials of advanced gastric cancer? The authors conclude that the answer is no, but it is not entirely clear how they reached this conclusion. They quote a number of statistics that characterize in various ways the concordance of PFS and OS results, in addition to R 2. However, these measures are all ultimately descriptive an...