Key Insights

• Understand whether PTEN pathway changes are present in your endometrial tissue—an early, common signal of cancer-related cellular activity.
• Identify tumor-specific genetic alterations that can help explain abnormal uterine bleeding, atypical hyperplasia, or biopsy findings that suggest endometrial cancer risk.
• Learn how factors like tumor biology, prior hormones, and inherited variants may shape your PTEN result and overall molecular profile.
• Use insights to guide discussions with your clinician about prognosis, surgical planning, fertility-sparing options when appropriate, and eligibility for clinical trials targeting the PI3K–AKT–mTOR pathway.
• Track molecular patterns over time when new samples are obtained, helping monitor persistence, recurrence, or response to an intervention.
• When appropriate, integrate PTEN results with related panels (e.g., MMR/MSI, POLE, p53, PIK3CA/AKT1) for a more complete view of your tumor’s behavior and risk.

What Is a PTEN Mutation Test?

A PTEN mutation test looks for changes in the PTEN gene within cells from the lining of the uterus. PTEN is a tumor suppressor—think “cellular brake”—that helps keep growth signals in check. When PTEN is inactivated by mutation or deletion, growth pathways can switch on, which is a hallmark of many endometrioid endometrial cancers. The test is performed on endometrial tissue obtained during a biopsy or dilation and curettage (D&C). Most laboratories use targeted next-generation sequencing (NGS) to identify pathogenic variants and may also assess copy number loss; some centers add immunohistochemistry (IHC) to show loss of PTEN protein. Results are reported as specific variants with a variant allele fraction (the percentage of DNA molecules carrying the change) and a clinical classification (pathogenic, likely pathogenic, etc.).

Why it matters: PTEN status reflects core cancer biology—particularly activation of the PI3K–AKT–mTOR growth pathway. Because PTEN loss is a frequent and often early event in endometrioid endometrial carcinogenesis, testing can uncover hidden risk in atypical hyperplasia, clarify borderline biopsy results, and help refine prognosis. Objective genomic data complements histology to reveal how the tumor is growing, how aggressive it may be, and which pathways might be targetable in clinical trials. In short, it moves the conversation from “what does it look like?” to “what is it doing?”

Why Is It Important to Test Your PTEN Mutation Status?

PTEN helps regulate cell division and survival by keeping pro-growth signals in balance. When PTEN function is lost, downstream pathways can run hot, driving cellular proliferation, genomic instability, and—over time—malignant transformation in the endometrium. Testing PTEN in tissue from an endometrial biopsy connects directly to what’s happening in your uterus right now. It can help explain persistent abnormal bleeding, identify molecular changes in atypical endometrial hyperplasia, and support the diagnosis and risk stratification of confirmed endometrial cancer. Large genomic studies consistently show PTEN among the most frequently altered genes in endometrioid endometrial tumors, which is why it features prominently in modern molecular workups.

Zooming out, PTEN is part of a bigger picture. Molecular profiling that includes PTEN—alongside MMR/MSI status, POLE mutation testing, p53, and PI3K pathway genes—supports more precise prognostic groups and can influence decisions about the intensity of surgery, radiation, and systemic therapy. As care progresses, additional samples obtained for clinical reasons can be re-profiled to monitor stability or evolution of the tumor’s molecular fingerprint. The goal isn’t to “pass” a test, but to understand your tumor’s wiring so you and your care team can make informed, forward-looking choices.

What Insights Will I Get From a PTEN Mutation Test?

Your report focuses on the presence or absence of PTEN alterations in the sampled tissue. Instead of a “level,” results list specific variants (for example, truncating or frameshift mutations) with a variant allele fraction. Some reports include copy number loss and IHC results for PTEN protein. In this context, “normal” means no pathogenic PTEN variant or protein loss detected in the analyzed tissue. “Optimal” is less about a number and more about a low-risk molecular profile overall—defined by your care team using established classifications that integrate multiple markers. Context is crucial: the same PTEN result can carry different weight depending on your histology, grade, stage, MMR/MSI status, and POLE or p53 findings.

When PTEN is intact, it suggests the tumor may be relying on other pathways and can support certain lower-risk molecular groupings when paired with favorable markers. Variation is expected: tumor cell percentage, prior hormonal therapy, and sampling site all influence what’s detected.

When PTEN is mutated or lost, it indicates disruption of a key growth-control brake and points toward activation of the PI3K–AKT–mTOR pathway. Higher variant allele fractions can suggest clonal dominance, while combined evidence of a truncating mutation plus copy number loss or protein absence supports biallelic inactivation—a stronger signal of pathway activation. Abnormal results do not by themselves define aggressiveness or treatment, but they prompt attention to related markers, may refine prognosis, and can open discussions about trial options that target this biology.

The real power comes from pattern recognition. Interpreted alongside histology and co-markers such as MMR/MSI, POLE, p53, PIK3CA, and AKT1, PTEN helps place your tumor into molecular categories used by many oncology teams to guide risk estimates and therapeutic strategy. Keep in mind limitations: results reflect only the sampled tissue, low tumor content can mask variants, fixation quality affects IHC, and the assay may not distinguish somatic from inherited changes without matched normal testing. If features suggest a hereditary syndrome, genetic counseling is recommended—though PTEN tumor results alone are not a diagnosis of inherited risk. As always, results must be interpreted clinically to support preventive care, timely treatment choices, and long-term follow up.