News - PIK3CA mutation

New perspectives on endocrine therapy suitability for hormone receptor-positive metastatic breast cancer in clinical practice. (PubMed, Breast)

We consider ET suitability to be the clinical assessment of whether a patient could benefit from ET, where benefit is defined not solely by tumor response but by a clinically relevant constellation of characteristics and markers possibly predicting the durability of disease response and symptom control. Several unresolved questions remain regarding issues such as disease heterogeneity, optimal treatment sequencing, and biomarker precision, but further work and ongoing studies will help to support the evolution of guidelines and provide clarity around the effective application of this quickly developing field to daily clinical practice.

1 day ago

Review • Journal

HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)

HER-2 positive • HR positive • HER-2 negative • PIK3CA mutation • HR positive + HER-2 negative

Integrated Analysis Identifies an Anoikis-Related Gene Signature for Predicting Prognosis in Patients With Triple-Negative Breast Cancer. (PubMed, IET Syst Biol)

Furthermore, STC2 knockdown reduced anoikis-related apoptotic rates in an MDA-MB-231-based anoikis-mimic model in vitro. This study established an anoikis-related gene signature that may improve prognostic stratification and reflect immunotherapy-related features in TNBC.

2 days ago

Journal • Tumor mutational burden • Gene Signature • PD(L)-1 Biomarker • IO biomarker

PD-L1 (Programmed death ligand 1) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • ASS1 (Argininosuccinate synthase 1) • STC2 (Stanniocalcin 2) • TGFBI (Transforming Growth Factor Beta Induced) • ZEB2 (Zinc Finger E-Box Binding Homeobox 2) • S100B (S100 Calcium Binding Protein B)

PIK3CA mutation • PTEN mutation

A Study of Mutant Selective-Inhibitor (CGT6297), in Patients With Advanced Solid Tumors (clinicaltrials.gov)

P1, N=90, Recruiting, Cogent Biosciences, Inc. | Not yet recruiting --> Recruiting | Initiation date: Feb 2026 --> Jun 2026

5 days ago

Enrollment open • Trial initiation date

HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)

HER-2 positive • HR positive • HER-2 negative • PIK3CA mutation • HR positive + HER-2 negative

Expanding the spectrum of H3K27-altered gliomas: Hemispheric cases with midline epigenetic signatures. (PubMed, Ann Diagn Pathol)

Clinically, two patients died within 3-9 months, while one remains clinically stable despite radiological progression. DHG-H3 K27 represents a rare hemispheric glioma subgroup sharing molecular and epigenetic features of DMG-H3 K27 without midline involvement, underscoring biological heterogeneity and the importance of integrated molecular classification.

5 days ago

Journal

BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • FGFR1 (Fibroblast growth factor receptor 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • ATRX (ATRX Chromatin Remodeler) • H3-3A (H3.3 Histone A)

BRAF mutation • PIK3CA mutation • IDH wild-type

Long-read sequencing bridges germline and somatic variant detection: a multi-modal approach for hereditary cancer diagnostics. (PubMed, Clin Transl Oncol)

These findings highlight the complementary and non-redundant roles of somatic liquid biopsy and germline analyses. Rather than indicating diagnostic equivalence, the results show that each approach captures distinct but clinically relevant genomic information. The inclusion of ONT long-read sequencing may improve the characterization of inherited variants, particularly structural variants and phasing and may support more comprehensive risk assessment and therapeutic planning.

5 days ago

Journal • BRCA Biomarker

EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA2 (Breast cancer 2, early onset) • MSH2 (MutS Homolog 2) • CHEK2 (Checkpoint kinase 2)

TP53 mutation • PIK3CA mutation

Oncogenic impact of PIK3CA, KRAS, and PTEN mutations in cervical cancer among South Indian women. (PubMed, Adv Clin Exp Med)

The high prevalence of HPV underscores its etiological significance in CC. These findings contribute to a deeper understanding of the molecular mechanisms underlying CC in this population and may support the development of targeted therapeutic strategies for high-risk individuals. Future prospective studies and functional analyses are warranted to validate the clinical significance of these mutations and clarify their role in disease progression.

5 days ago

Journal

KRAS (KRAS proto-oncogene GTPase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog)

KRAS mutation • PIK3CA mutation • PTEN mutation

A Novel Patient-Derived Xenograft Model of Inflammatory Breast Cancer. (PubMed, Res Sq)

Methods We derived a novel PDX from a patient with hormone receptor negative, HER2-positive IBC refractory to neoadjuvant chemotherapy with Docetaxel, Carboplatin, Trastuzumab, and Pertuzumab (TCHP)...We performed short-tandem repeat (STR) profiling, plotted tumor growth curves for mice treated with alpelisib/everolimus vs. untreated, and immunohistochemistry (IHC), and performed clinical genomic assays...Conclusion We established a PDX of a HER2-positive IBC tumor with a PIK3CA hotspot mutation (H1047R) refractory to TCHP. Targeting the PI3K/mTOR pathway may be useful to overcome resistance in HER2-positive IBC with a H1047R mutation in PIK3CA.

6 days ago

Preclinical • Journal

HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • AR (Androgen receptor) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A)

HER-2 positive • PIK3CA mutation • HER-2 mutation • HER-2 expression • HR negative • HR negative + HER-2 positive

Herceptin (trastuzumab) • carboplatin • docetaxel • everolimus • Perjeta (pertuzumab) • Piqray (alpelisib)

Landscape of Chinese Lung Cancer Patients With Compound Mutations and Acquired Resistance Alterations: A Retrospective Study. (PubMed, Int J Cancer)

Notably, the mean duration of disease progression following EGFR-TKI initiation did not differ significantly between patients with EGFR exon 21 p.L858R mutation and those with EGFR 19-Del. Our study reveals the heterogeneity of compound EGFR mutations, and characterizes the spectrum of acquired resistance mutations to EGFR TKIs.

6 days ago

Preclinical • Retrospective data • Journal

HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TYK2 (Tyrosine Kinase 2)

TP53 mutation • BRAF V600E • KRAS mutation • EGFR mutation • PIK3CA mutation • BRAF V600 • EGFR L858R • EGFR exon 19 deletion • EGFR T790M • EGFR exon 20 insertion • RAS mutation • EGFR exon 20 mutation

The Mutational Landscape of Angiosarcoma: Challenges and Opportunities to Design Management Strategies. (PubMed, Curr Mol Med)

Recent clinical trials (Axi-STS, TAPPAS) demonstrated that single-agent anti-angiogenic inhibitors (axitinib, pazopanib) achieve modest efficacy (median progression-free survival (PFS) 3.0-4.3 months, response rates 5-13%), underscoring angiosarcoma's complex, multipathway-driven pathogenesis. Environmental exposures (vinyl chloride, thorotrast, radiation) drive distinct angiosarcoma subtypes with subtype-specific mutational profiles. We propose that precision-medicine approaches integrating molecular stratification, pathway crosstalk analysis, and biomarker-guided combination therapies represent the rational next steps to overcome therapeutic resistance and improve clinical outcomes in this lethal malignancy.

8 days ago

Journal • PD(L)-1 Biomarker • IO biomarker

TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • IL10 (Interleukin 10) • TGFB1 (Transforming Growth Factor Beta 1) • ENG (Endoglin) • CDH5 (Cadherin 5)

TP53 mutation • PIK3CA mutation

pazopanib • axitinib

In silico analysis of driver genes in squamous cell carcinoma of the cervix: insights into their biological functions, prognosis, immune infiltration, and therapy. (PubMed, World J Surg Oncol)

Collectively, our analysis describes the driver genes and mutation characteristics in SCC. The multi-cohort and network-based framework employed in this study identifies candidate hub genes that warrant further clinical investigation in cervical cancer.

8 days ago

Journal

KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • ARID1A (AT-rich interaction domain 1A) • NOTCH1 (Notch 1) • KMT2D (Lysine Methyltransferase 2D) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • KMT2C (Lysine Methyltransferase 2C) • FAT1 (FAT atypical cadherin 1) • EP300 (E1A binding protein p300) • CASP8 (Caspase 8)

TP53 mutation • KRAS mutation • PIK3CA mutation • ARID1A mutation • STK11 mutation

Herceptin (trastuzumab) • everolimus • Piqray (alpelisib)

IACS-6274 With or Without Bevacizumab and Paclitaxel for the Treatment of Advanced Solid Tumors (clinicaltrials.gov)

P1, N=54, Recruiting, M.D. Anderson Cancer Center | Trial completion date: May 2026 --> Jun 2028 | Trial primary completion date: May 2026 --> Mar 2028

9 days ago

Trial completion date • Trial primary completion date

PD-L1 (Programmed death ligand 1) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • ARID1A (AT-rich interaction domain 1A) • NF1 (Neurofibromin 1) • KEAP1 (Kelch Like ECH Associated Protein 1) • PD-1 (Programmed cell death 1) • NFE2L2 (Nuclear Factor, Erythroid 2 Like 2)

PIK3CA mutation • PTEN mutation • ARID1A mutation • STK11 mutation • KEAP1 mutation • NFE2L2 mutation

Avastin (bevacizumab) • paclitaxel • Truqap (capivasertib) • IPN60090

A Phase ll, Interventional, Single-arm Study Evaluating the Efficacy and Safety of Inavolisib Plus Ribociclib and Fulvestrant in Chinese Patients With PIK3CA-mutant, HR-positive, HER2-negative Locally Advanced or Metastatic Breast Cancer. (clinicaltrials.gov)

P2, N=160, Not yet recruiting, Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University

9 days ago

New P2 trial

HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PGR (Progesterone receptor)

ER positive • HER-2 negative • PIK3CA mutation

Kisqali (ribociclib) • fulvestrant • Itovebi (inavolisib)