PTEN Mutation

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Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Burkitt Lymphoma1
PTEN Mutation	(oncogenic)	Oncogenic	E	Supports Oncogenicity	3	submitted	EID11832 Described in multiple studies of BL PMID 30617194 · Grande et al., 2019 · Open in CIViC	civic
Endometrial Carcinoma1
PTEN Mutation	Everolimus	Predictive	B	Does Not Support Sensitivity Response	3	accepted	EID1232 Tumors from 35 patients (12 with partial response or stable disease) with advanced endometrial carcinoma were assessed for PTEN mutational status, revealing 12 tumors with non-identical PTEN gene muta… (full text at CIViC) PMID 23238879 · Trédan et al., 2013 · Open in CIViC	civic

Molecular profile

Therapy

Type

Level

Direction · significance

Rating (1–5)

Status

Evidence

Source

Burkitt Lymphoma1

PTEN Mutation

(oncogenic)

Oncogenic

Supports Oncogenicity

submitted

EID11832

Described in multiple studies of BL

PMID 30617194 · Grande et al., 2019 · Open in CIViC

civic

Endometrial Carcinoma1

PTEN Mutation

Everolimus

Predictive

Does Not Support Sensitivity Response

accepted

EID1232

Tumors from 35 patients (12 with partial response or stable disease) with advanced endometrial carcinoma were assessed for PTEN mutational status, revealing 12 tumors with non-identical PTEN gene muta… (full text at CIViC)

PMID 23238879 · Trédan et al., 2013 · Open in CIViC

civic

Glioblastoma3
PTEN Mutation	(diagnostic)	Diagnostic	C	Supports Positive	2	accepted	EID1931 Rasheed et al. identified that PTEN mutations occur with significantly greater frequency in adults with high-grade gliomas (42 adult glioblastoma multiforme and 13 adult anaplastic astrocytoma) compar… (full text at CIViC) PMID 9331072 · Rasheed et al., 1997 · Open in CIViC	civic
PTEN Mutation	Buparlisib	Predictive	B	Does Not Support Sensitivity Response	3	submitted	EID7074 In this multicenter, open-label, multi-arm, phase 2 trial, 65 patients with PI3K pathway aberrations (defined by PTEN and pAKT IHC-Status in 95%, genomic testing in 5%) were treated with the PI3K inhi… (full text at CIViC) PMID 30715997 · Wen et al., 2019 · Open in CIViC	civic
PTEN Mutation	Nivolumab + PembrolizumabSubstitutes	Predictive	B	Supports Resistance	4	submitted	EID8176 In this retrospective study of 66 GBM patients treated with PD-1 inhibitors (nivolumab or pembrolizumab) at recurrence, mutations in PTEN were frequently found among non-responders. Of 45 IDH1 wild-ty… (full text at CIViC) PMID 30742119 · Zhao et al., 2019 · Open in CIViC	civic

Glioblastoma3

PTEN Mutation

(diagnostic)

Diagnostic

Supports Positive

accepted

EID1931

Rasheed et al. identified that PTEN mutations occur with significantly greater frequency in adults with high-grade gliomas (42 adult glioblastoma multiforme and 13 adult anaplastic astrocytoma) compar… (full text at CIViC)

PMID 9331072 · Rasheed et al., 1997 · Open in CIViC

civic

PTEN Mutation

Buparlisib

Predictive

Does Not Support Sensitivity Response

submitted

EID7074

In this multicenter, open-label, multi-arm, phase 2 trial, 65 patients with PI3K pathway aberrations (defined by PTEN and pAKT IHC-Status in 95%, genomic testing in 5%) were treated with the PI3K inhi… (full text at CIViC)

PMID 30715997 · Wen et al., 2019 · Open in CIViC

civic

PTEN Mutation

Nivolumab + PembrolizumabSubstitutes

Predictive

Supports Resistance

submitted

EID8176

In this retrospective study of 66 GBM patients treated with PD-1 inhibitors (nivolumab or pembrolizumab) at recurrence, mutations in PTEN were frequently found among non-responders. Of 45 IDH1 wild-ty… (full text at CIViC)

PMID 30742119 · Zhao et al., 2019 · Open in CIViC

civic

Head and Neck Squamous Cell Carcinoma1
PTEN Mutation	Taselisib	Predictive	D	Supports Resistance	3	accepted	EID1467 In a panel of 26 HNSCC cell lines tested for sensitivity to taselisib (an alpha, delta and gamma isoform-specific PI3K inhibitor) the UD-SCC-2 cell line with homozygous PTEN deletion had considerably … (full text at CIViC) PMID 26589432 · Zumsteg et al., 2016 · Open in CIViC	civic

Head and Neck Squamous Cell Carcinoma1

PTEN Mutation

Taselisib

Predictive

Supports Resistance

accepted

EID1467

In a panel of 26 HNSCC cell lines tested for sensitivity to taselisib (an alpha, delta and gamma isoform-specific PI3K inhibitor) the UD-SCC-2 cell line with homozygous PTEN deletion had considerably … (full text at CIViC)

PMID 26589432 · Zumsteg et al., 2016 · Open in CIViC

civic

Malignant Breast Neoplasm1
PIK3CA Mutation OR PTEN Mutation OR AKT1 Mutation	Capivasertib + FulvestrantCombination	Predictive	A	Supports Sensitivity Response	3	accepted	EID12020 In a phase 3 trial (NCT04305496) of 708 patients with advanced HR+ HER2- breast cancer, the combination of the AKT inhibitor capivasertib and the estrogen receptor degrader fulvestrant resulted in sig… (full text at CIViC) PMID 37256976 · Turner et al., 2023 · Open in CIViC	civic

Malignant Breast Neoplasm1

PIK3CA Mutation OR PTEN Mutation OR AKT1 Mutation

Capivasertib + FulvestrantCombination

Predictive

Supports Sensitivity Response

accepted

EID12020

In a phase 3 trial (NCT04305496) of 708 patients with advanced HR+ HER2- breast cancer, the combination of the AKT inhibitor capivasertib and the estrogen receptor degrader fulvestrant resulted in sig… (full text at CIViC)

PMID 37256976 · Turner et al., 2023 · Open in CIViC

civic

Malignant Colorectal Neoplasm1
PIK3CA Mutation OR PTEN Mutation OR PIK3R1 Mutation	Aspirin	Predictive	B	Supports Sensitivity Response	4	accepted	EID12602 In a randomized, double blind, placebo controlled adjuvant trial in colorectal carcinoma with PI3K pathway mutations (ALASCCA, NCT02647099; group B n = 312), aspirin 160 mg daily (group B n = 156) for… (full text at CIViC) PMID 40961426 · Martling et al., 2025 · Open in CIViC	civic

Malignant Colorectal Neoplasm1

PIK3CA Mutation OR PTEN Mutation OR PIK3R1 Mutation

Aspirin

Predictive

Supports Sensitivity Response

accepted

EID12602

In a randomized, double blind, placebo controlled adjuvant trial in colorectal carcinoma with PI3K pathway mutations (ALASCCA, NCT02647099; group B n = 312), aspirin 160 mg daily (group B n = 156) for… (full text at CIViC)

PMID 40961426 · Martling et al., 2025 · Open in CIViC

civic

Malignant Head and Neck Neoplasm1
PTEN Mutation	Pictilisib + TanespimycinSubstitutes	Predictive	D	Does Not Support Sensitivity Response	2	accepted	EID1359 Analysis of drug response data from the Sanger center cell line screen. Cell lines with either PI3K and/or PTEN mutations did not show a significant difference in response to the class I PI3K inhibito… (full text at CIViC) PMID 25855885 · Wirtz et al., 2015 · Open in CIViC	civic

Malignant Head and Neck Neoplasm1

PTEN Mutation

Pictilisib + TanespimycinSubstitutes

Predictive

Does Not Support Sensitivity Response

accepted

EID1359

Analysis of drug response data from the Sanger center cell line screen. Cell lines with either PI3K and/or PTEN mutations did not show a significant difference in response to the class I PI3K inhibito… (full text at CIViC)

PMID 25855885 · Wirtz et al., 2015 · Open in CIViC

civic

Malignant Neoplasm1
PTEN Mutation	Ipatasertib	Predictive	D	Supports Sensitivity Response	3	accepted	EID1491 IC50 for the pan-Akt inhibitor ipatasertib (GDC-0068) was determined over a panel of 100 cancer cell lines. Loss or mutation of PTEN (e.g. PTEN deletion, T319fsX1/Y155C, etc.) was significantly associ… (full text at CIViC) PMID 23287563 · Lin et al., 2013 · Open in CIViC	civic

Malignant Neoplasm1

PTEN Mutation

Ipatasertib

Predictive

Supports Sensitivity Response

accepted

EID1491

IC50 for the pan-Akt inhibitor ipatasertib (GDC-0068) was determined over a panel of 100 cancer cell lines. Loss or mutation of PTEN (e.g. PTEN deletion, T319fsX1/Y155C, etc.) was significantly associ… (full text at CIViC)

PMID 23287563 · Lin et al., 2013 · Open in CIViC

civic

Prostate Adenocarcinoma1
PTEN Mutation	Alpelisib + Enzalutamide + PI3Kbeta Inhibitor AZD8186Combination	Predictive	D	Supports Sensitivity Response	3	accepted	EID1522 Castrated mice bearing androgen-sensitive human prostate adenocarcinomas (LNCaP tumors) were treated with PI3K inhibitors (AZD8186, BYL719) and an androgen receptor inhibitor (MDV3100). Mice treated … (full text at CIViC) PMID 25544636 · Schwartz et al., 2015 · Open in CIViC	civic

Prostate Adenocarcinoma1

PTEN Mutation

Alpelisib + Enzalutamide + PI3Kbeta Inhibitor AZD8186Combination

Predictive

Supports Sensitivity Response

accepted

EID1522

Castrated mice bearing androgen-sensitive human prostate adenocarcinomas (LNCaP tumors) were treated with PI3K inhibitors (AZD8186, BYL719) and an androgen receptor inhibitor (MDV3100). Mice treated … (full text at CIViC)

PMID 25544636 · Schwartz et al., 2015 · Open in CIViC

civic

Solid Neoplasm1
MTOR Mutation OR PIK3CA Mutation OR PTEN Mutation OR AKT1 Mutation OR AKT2 Mutation	Sapanisertib	Predictive	B	Supports Sensitivity Response	2	accepted	EID12075 In this study, 30 patients with advanced solid malignancies harboring mTOR/AKT/PI3K pathway alterations were treated with Sapanisertib. The tumor types included sarcomas, breast, ovarian, head and nec… (full text at CIViC) PMID 38126764 · Subbiah et al., 2024 · Open in CIViC	civic

Solid Neoplasm1

MTOR Mutation OR PIK3CA Mutation OR PTEN Mutation OR AKT1 Mutation OR AKT2 Mutation

Sapanisertib

Predictive

Supports Sensitivity Response

accepted

EID12075

In this study, 30 patients with advanced solid malignancies harboring mTOR/AKT/PI3K pathway alterations were treated with Sapanisertib. The tumor types included sarcomas, breast, ovarian, head and nec… (full text at CIViC)

PMID 38126764 · Subbiah et al., 2024 · Open in CIViC

civic

Obsolete PTEN Hamartoma Tumor Syndrome1unmapped disease
PTEN Mutation	(predisposing)	Predisposing	B	Supports Predisposition	3	submitted	EID9751 Out of 146 participants with PTEN hamartoma tumour syndrome (PHTS), it was determined that genotype-phenotype correlations are a poor indicator of cancer risks when assessing causative PTEN germline m… (full text at CIViC) PMID 23335809 · Bubien et al., 2013 · Open in CIViC	civic

Obsolete PTEN Hamartoma Tumor Syndrome1unmapped disease

PTEN Mutation

(predisposing)

Predisposing

Supports Predisposition

submitted

EID9751

Out of 146 participants with PTEN hamartoma tumour syndrome (PHTS), it was determined that genotype-phenotype correlations are a poor indicator of cancer risks when assessing causative PTEN germline m… (full text at CIViC)

PMID 23335809 · Bubien et al., 2013 · Open in CIViC

civic

Evidence by cancer (13 items)

Clinical significance (0)