News - PTEN mutation - LARVOL VERI

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

Not Missing the Notch: Detection Challenges of Juxtamembrane NOTCH1 Variant Detection in T-Cell Acute Lymphoblastic Leukemia. (PubMed, J Clin Lab Anal)

Detection of NOTCH1 JME-ITDs depends strongly on variant-calling strategy. Combining haplotype-based callers with split-read structural variant tools may reduce false negatives and improve detection of clinically relevant insertions in diagnostic NGS pipelines.

2 days ago

Journal

PTEN (Phosphatase and tensin homolog) • NOTCH1 (Notch 1)

PTEN mutation

OncoKitDx

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

Spherical radiomics for radiogenomic assessment of glioblastoma heterogeneity. (PubMed, Neurooncol Adv)

Radial transition analysis using the Mann-Whitney U-test demonstrated that transition slopes between the T1-weighted contrast-enhancing and T2/FLAIR hyperintense regions, as well as between the T2/FLAIR hyperintense and peritumoral regions, were significantly associated with biomarker status. Radiomic features extracted from spherical surfaces at varying radial distances from the tumor centroid demonstrate stronger associations with key molecular markers and patient survival compared to conventional Euclidean radiomics, highlighting the value of spatially structured radiomic analysis for improved GBM characterization.

6 days ago

Journal

EGFR (Epidermal growth factor receptor) • PTEN (Phosphatase and tensin homolog) • MGMT (6-O-methylguanine-DNA methyltransferase)

EGFR mutation • PTEN mutation • MGMT promoter methylation

Mesenchymal neoplasms with RAF/BRAF alterations: eight cases revealing novel fusions, V600E mutation and clonal evolution. (PubMed, J Clin Pathol)

RAF/BRAF-driven mesenchymal tumours possess a broader clinicopathologic spectrum than traditionally recognised, frequently affecting adults and deep/visceral sites. Their inherently variable immunophenotypes and the presence of high-grade morphologic features do not strictly predict an aggressive clinical trajectory. Comprehensive molecular profiling is essential to refine diagnostic criteria, accurately identify these neoplasms, and elucidate the genomic events associated with tumour progression.

7 days ago

Journal

BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • CD34 (CD34 molecule)

TP53 mutation • BRAF V600E • BRAF V600 • PTEN mutation

Landscape of genetic alterations affecting cancer genes in primary and advanced malignant phyllodes tumours. (PubMed, Histopathology)

Taken together, the repertoire of genetic alterations in primary and metastatic/recurrent MPTs shows overlap, and CDKN2A/2B homozygous deletions may play a role in progression. Additionally, molecular profiles of MPTs may vary according to genetic ancestry and MED12 mutational status.

7 days ago

Journal • Tumor mutational burden

EGFR (Epidermal growth factor receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • TERT (Telomerase Reverse Transcriptase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • MED12 (Mediator Complex Subunit 12)

TMB-H • PTEN mutation • CDKN2A deletion • RB1 mutation

Gliosarcoma of the craniovertebral junction with loss of H3K27me3: a case report with molecular profiling. (PubMed, Brain Tumor Pathol)

Despite adjuvant radiation therapy, temozolomide, and bevacizumab, leptomeningeal dissemination occurred, and the patient died five months postoperatively. These findings may be associated with PRC2 dysfunction; however, their biological significance remains to be clarified. Comprehensive molecular profiling may contribute to improved diagnostic characterization of such rare entities.

8 days ago

Journal

PTEN (Phosphatase and tensin homolog) • TERT (Telomerase Reverse Transcriptase) • EPHB1 (EPH Receptor B1) • SUZ12 (SUZ12 Polycomb Repressive Complex 2 Subunit)

PTEN mutation

Avastin (bevacizumab) • temozolomide

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

12d

Pangeia-2: Minimally Interventional Study on Prevalence of Emerging ESR1 Mutations in Liquid Biopsy in Three Cohorts of Patients With Breast Cancer in Comparison With Patient's Baseline ESR1 Mutation Status as Defined by Tissue Profiling. (clinicaltrials.gov)

P=N/A, N=170, Recruiting, AstraZeneca | N=70 --> 170

12 days ago

Enrollment change • Liquid biopsy

HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PGR (Progesterone receptor) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2)

HER-2 negative • HER-2 mutation • PTEN mutation • PGR positive

12d

Assessing biomarkers for patients with breast cancer who are suited for adjuvant therapy. (PubMed, Expert Rev Mol Diagn)

Emerging approaches, including liquid biopsy, AI, and multi-omics integration, offer dynamic insights but require prospective validation. Future progress depends on assay standardization, equitable access, and validation within adaptive clinical trial frameworks, supporting integrated molecular - clinical and AI-enhanced models for personalized therapy.

12 days ago

Journal

HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • mTOR (Mechanistic target of rapamycin kinase)

HER-2 positive • PIK3CA mutation • HER-2 mutation • PTEN mutation

HER2DX

12d

Unveiling the molecular profile of adenosquamous gallbladder carcinoma: characterization of a Caucasian cohort. (PubMed, Histopathology)

Overall, these findings support the recognition of GBASC as a distinct molecular entity potentially requiring dedicated therapeutic strategies.

12 days ago

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

HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CLDN18 (Claudin 18)

HER-2 overexpression • PIK3CA mutation • PTEN mutation • CLDN18.2 expression

14d

Testing the Addition of Copanlisib to Eribulin in Metastatic Triple Negative Breast Cancer (clinicaltrials.gov)

P1/2, N=24, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: May 2026 --> May 2027

14 days ago

Trial completion date

ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PGR (Progesterone receptor) • PTEN (Phosphatase and tensin homolog)

HER-2 amplification • HER-2 negative • PIK3CA mutation • PTEN mutation

eribulin mesylate • Aliqopa (copanlisib)