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| Gene | PTEN |
| Variant | mutant |
| Impact List | unknown |
| Protein Effect | unknown |
| Gene Variant Descriptions | PTEN mutant indicates an unspecified mutation in the PTEN gene. |
| Associated Drug Resistance | |
| Category Variants Paths |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| PTEN mutant | endometrial cancer | resistant | A66 | Preclinical | Actionable | In a preclinical study, endometrioid endometrial cancer cell lines harboring PTEN mutations demonstrated resistance to A66 induced growth inhibition in culture (PMID: 23674493). | 23674493 |
| PTEN mutant | lung adenocarcinoma | no benefit | Capivasertib | Case Reports/Case Series | Actionable | In a Phase II trial (NLMT), Truqap (capivasertib) treatment did not result in a confirmed response (0/8) or durable clinical benefit (0/8) in patients with lung adenocarcinoma harboring mutations in PIK3CA, PTEN, or AKT, thus the cohort was closed due to futility (PMID: 32669708, NCT02664935). | 32669708 |
| PTEN mutant | endometrial cancer | resistant | AZD6482 | Preclinical | Actionable | In a preclinical study, endometrioid endometrial cancer cell lines harboring PTEN mutations demonstrated resistance to AZD6482 induced growth inhibition in culture (PMID: 23674493). | 23674493 |
| PTEN mutant | endometrial cancer | sensitive | Dactolisib | Preclinical | Actionable | In a preclinical study, BEZ235 decreased growth of endometrial cancer cells harboring a PTEN nonsense mutation in culture and in xenograft models (PMID: 22662154). | 22662154 |
| PTEN mutant | breast cancer | sensitive | CUDC-907 | Preclinical - Cell culture | Actionable | In a preclinical study, CUDC-907 inhibited growth of breast cancer cells lines harboring Pten mutations and/or deletions (PMID: 22693356). | 22693356 |
| PTEN mutant | endometrial cancer | sensitive | Everolimus | Preclinical - Cell line xenograft | Actionable | In a preclinical study, Afinitor (everolimus) inhibited growth of endometrial cancer cells harboring a PTEN nonsense mutation in culture and in xenograft models (PMID: 22662154). | 22662154 |
| PTEN mutant | endometrial cancer | sensitive | Apitolisib | Phase II | Actionable | In a Phase II trial, Apitolisib (GDC-0980) was poorly tolerated, but demonstrated efficacy in endometrial cancer patients harboring mutations in PIK3CA, PTEN, or AKT1 (J Clin Oncol 32:5s, 2014 (suppl; abstr 5513)). | detail... |
| PTEN mutant | endometrial cancer | resistant | GSK2636771 | Preclinical | Actionable | In a preclinical study, endometrioid endometrial cancer cell lines harboring PTEN mutations demonstrated resistance to GSK2636771 induced growth inhibition in culture (PMID: 23674493). | 23674493 |
| PTEN mutant | hepatocellular carcinoma | decreased response | Sorafenib | Clinical Study - Cohort | Actionable | In a clinical case study, Nexavar (sorafenib) treatment of patients with hepatocellular carcinoma harboring Mtor pathway mutations in PIK3CA, PTEN, TSC2, or TSC1 (n=12), resulted in a lower disease control rate (8.3% vs. 40.2%), shorter progression-free survival (1.9 months vs. 5.3 months) and shorter overall survival (10.4 months vs. 17.9 months) compared to patients without mutations in this pathway (n=67) (PMID: 30373752; NCT01775072). | 30373752 |
| PTEN mutant | endometrial cancer | no benefit | Temsirolimus | Phase II | Actionable | In a retrospective study of a Phase II trial, mutation status of PTEN was not associated with progression-free survival or response rate in advanced endometrial cancer patients treated with Torisel (temsirolimus) (PMID: 27016228). | 27016228 |
| PTEN mutant | head and neck squamous cell carcinoma | resistant | Taselisib | Preclinical - Cell line xenograft | Actionable | In a preclinical study, head and neck squamous cell carcinoma cell lines and cell line xenograft models with PTEN alterations were resistant to the apoptotic effects of Taselisib (GDC-0032) (PMID: 26589432). | 26589432 |
| PTEN mutant | breast cancer | sensitive | Sapanisertib | Preclinical | Actionable | In a preclinical study, Sapanisertib (MLN0128) induced apoptosis and inhibited MTORC1 signaling in breast cancer cells harboring a PTEN mutation (PMID: 25261369). | 25261369 |
| PTEN mutant | gastrointestinal system cancer | decreased response | Nivolumab | Clinical Study - Cohort | Actionable | In a retrospective analysis, patients with MSI high, dMMR gastrointestinal tumors including gastric (n=18), colorectal (n=17), cholangiocarcinoma (n=5), small intestine (n=2), pancreatic (n=2), and duodenal cancer (n=1) harboring PTEN mutations demonstrated a decreased objective response rate (21.4 vs 54.8%), overall survival (15.2 vs 25.7 mo), and progression-free survival (4.3 vs 15.6 mo) compared to PTEN-wild-type patients when treated with Keytruda (pembrolizumab) or Opdivo (nivolumab) (PMID: 33926917). | 33926917 |
| PTEN mutant | gastrointestinal system cancer | decreased response | Pembrolizumab | Clinical Study - Cohort | Actionable | In a retrospective analysis, patients with MSI high, dMMR gastrointestinal tumors including gastric (n=18), colorectal (n=17), cholangiocarcinoma (n=5), small intestine (n=2), pancreatic (n=2), and duodenal cancer (n=1) harboring PTEN mutations demonstrated a decreased objective response rate (21.4 vs 54.8%), overall survival (15.2 vs 25.7 mo), and progression-free survival (4.3 vs 15.6 mo) compared to PTEN-wild-type patients when treated with Keytruda (pembrolizumab) or Opdivo (nivolumab) (PMID: 33926917). | 33926917 |
| PTEN mutant | breast cancer | not applicable | N/A | Guideline | Risk Factor | Germline PTEN mutations result in Cowden syndrome, which is associated with increased risk of developing breast cancer (NCCN.org). | detail... |
| PTEN mutant | skin melanoma | not applicable | N/A | Guideline | Risk Factor | Germline PTEN mutations or polymorphisms are associated with increased risk of developing single or multiple primary cutaneous melanomas (NCCN.org). | detail... |
| PTEN mutant | glioblastoma | no benefit | Buparlisib + Capmatinib | Phase Ib/II | Actionable | In a Phase Ib/II trial, combination of Buparlisib (BKM120) and Tabrecta (capmatinib) did not reach target exposure due to potential drug-drug interaction, and demonstrated minimal activity in patients with glioblastoma harboring PTEN alterations including deletion, mutation, or negative protein expression, therefore, Phase II of the trial was not initiated (PMID: 31776899; NCT01870726). | 31776899 |
| PTEN mutant | endometrial cancer | resistant | TGX-221 | Preclinical | Actionable | In a preclinical study, endometrioid endometrial cancer cell lines harboring PTEN mutations demonstrated resistance to TGX-221 induced growth inhibition in culture (PMID: 23674493). | 23674493 |
| PTEN mutant | uterine cancer | sensitive | GSK2256098 | Preclinical | Actionable | In a preclinical study, uterine cancer cells harboring a PTEN mutation demonstrated sensitivity to GSK2256098, resulting in inhibition of Ptk2 (Fak) phosphorylation, decreased tumor growth, and apoptosis both in culture and in mouse models (PMID: 25833835). | 25833835 |
| PTEN mutant | melanoma | sensitive | BI-69A11 | Preclinical - Cell line xenograft | Actionable | In a preclinical study, BI-69A11 resulted in antitumor activity in a melanoma cell line harboring a PTEN mutation, including induction of cell death in culture, and in xenograft models, tumor growth inhibition and tumor regression (PMID: 19175524). | 19175524 |
| PTEN mutant | endometrial cancer | sensitive | A66 + AZD6482 | Preclinical | Actionable | In a preclinical study, A66 and AZD6482 combination treatment inhibited viability of endometrioid endometrial cancer cell lines harboring PTEN mutations in culture (PMID: 23674493). | 23674493 |
| PTEN mutant | endometrial cancer | sensitive | A66 + GSK2636771 | Preclinical | Actionable | In a preclinical study, A66 and GSK2636771 combination treatment inhibited viability of endometrioid endometrial cancer cell lines harboring PTEN mutations in culture (PMID: 23674493). | 23674493 |
| PTEN mutant | uterine cancer | sensitive | GSK2256098 + Paclitaxel | Preclinical | Actionable | In a preclinical study, uterine cancer cells harboring a PTEN mutation were more sensitive to the combination of GSK2256098 and Taxol (paclitaxel) than uterine cancer cells wild-type for PTEN, resulting in decreased tumor growth in culture and in mouse models (PMID: 25833835). | 25833835 |
| PTEN mutant | uterine cancer | sensitive | GSK2256098 + Topotecan | Preclinical | Actionable | In a preclinical study, uterine cancer cells harboring a PTEN mutation were more sensitive to the combination of GSK2256098 and Hycamtin (topotecan) than uterine cancer cells wild-type for PTEN, resulting in decreased tumor growth in culture and in mouse models (PMID: 25833835). | 25833835 |
| PTEN mutant | breast cancer | predicted - sensitive | MS417 + Pictilisib | Preclinical - Cell culture | Actionable | In a preclinical study, Pictilisib (GDC-0941) and MS417 in combination resulted in improved growth inhibition and increased cell death compared to either agent alone in a PTEN-mutant breast cancer cell line in culture (PMID: 26058079). | 26058079 |