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PTEN Gene Positive Endometrial Adenocarcinoma
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PTEN Gene Positive Endometrial Adenocarcinoma

PTEN gene positive endometrial adenocarcinoma is endometrial cancer that has a genetic mutation in the PTEN gene. PTEN stands for phosphatase and tensin homolog, and it is a gene that encodes the protein phosphatase PTEN, which plays a role in cell growth, proliferation, survival, and genomic integrity maintenance. PTEN’s role in cancer is that it is a tumor suppressor. The protein negatively regulates the signaling pathway between PI3K and AKT.

The PTEN mutation occurs in about 48 percent of endometrial cancer patients and is an inclusion criterion for several clinical trials. Patients who are interested in more targeted treatments for cancer cases with the PTEN mutation should consult their doctor to get testing for the PTEN mutation. The PTEN mutation also occurs in other cancer types, such as prostate, breast, colon, lung, ovarian, and bladder cancer. It is most common in endometrial adenocarcinoma.  

Testing for PTEN Gene Positive Endometrial Adenocarcinoma

Testing for PTEN gene mutations can be requested by a healthcare professional, and it usually is done using a blood test. The PTEN gene mutation can be an inherited mutation, or it can be acquired later in life. Knowing if a PTEN mutation is present will help patients notify family of their potential risks, as well as help them determine the best treatment options, especially if they are interested in clinical trials. A positive PTEN test will also help doctors understand what routine screening they should participate in. For example, they may recommend starting screenings such as a colonoscopy, or mammogram at an earlier age, as well as yearly screening for the uterine, thyroid, kidney.

According to www.clinicaltrials.gov, there are 5 clinical trials active or recruiting for PTEN gene positive endometrial adenocarcinoma. 1 is in early phase 1, 1 is in phase 1, 3 are phase 2. Only 3 of these trials are recruiting.

Sources:

PTEN Genetic Test: MedlinePlus Medical Test

PTEN mutations in endometrial carcinomas: a molecular and clinicopathologic analysis of 38 cases – PubMed (nih.gov)

PTEN – My Cancer GenomeAltered PTEN Expression as a Diagnostic Marker for the Earliest Endometrial Precancers | JNCI: Journal of the National Cancer Institute | Oxford Academic (oup.com)

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