^
7d
Bronchiolar adenoma and glandular papilloma/mixed squamous cell and glandular papilloma represent a continuous disease spectrum: revelations from combined histological and genetic analysis. (PubMed, Histopathology)
GP/MP and BA represent the same disease spectrum, showing a continuous histomorphological change along the proximal-to-distal bronchial tree. BRAF and AKT1 mutations are more frequently observed in GP/MP and proximal-type BA with papillary architecture, whereas BA lacking papillary structures is mainly characterized by EGFR or KRAS mutations. However, the BRAF mutation rate in BA varies across geographical regions and appears to be associated with factors such as smoking.
Journal
|
EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • AKT1 (V-akt murine thymoma viral oncogene homolog 1)
|
KRAS mutation • EGFR mutation • BRAF mutation • AKT1 mutation
21d
MK-7075 (Miransertib) in Proteus Syndrome (clinicaltrials.gov)
P2, N=38, Active, not recruiting, National Human Genome Research Institute (NHGRI) | Recruiting --> Active, not recruiting
Enrollment closed
|
AKT1 (V-akt murine thymoma viral oncogene homolog 1)
|
AKT1 mutation
|
miransertib (MK-7075)
23d
Molecular characterization of mammary mucinous cystadenocarcinoma reveals recurrent TP53 and RB1 alterations with frequent PI3K-AKT pathway abnormalities. (PubMed, Virchows Arch)
Overall, recurrent TP53 and RB1 involvement, together with frequent PI3K-AKT pathway abnormalities and low TMB, supports a distinctive molecular profile for mammary MCA by comparison to conventional mucinous breast carcinoma. These findings may assist in differential diagnosis when interpreted in conjunction with histomorphology and immunophenotype.
Journal • Tumor mutational burden
|
KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • RB1 (RB Transcriptional Corepressor 1)
|
TP53 mutation • KRAS mutation • PIK3CA mutation • TMB-L • AKT1 mutation
1m
Clinicopathological and molecular features of meningioma: an analysis of 134 cases based on high-throughput sequencing (PubMed, Zhonghua Bing Li Xue Za Zhi)
TERT promoter mutations and CDKN2A/B homozygous deletion occur exclusively in high-grade meningiomas, link to unfavorable prognosis, and can serve as independent diagnostic markers for WHO grade 3 meningioma. JAK3 mutation seems also to be associated with high-grade meningiomas and shorter survivals.
Journal
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • TERT (Telomerase Reverse Transcriptase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • NF2 (Neurofibromin 2) • JAK3 (Janus Kinase 3) • KLF4 (Kruppel-like factor 4)
|
CDKN2A deletion • AKT1 mutation
1m
Sinonasal biphasic seromucinous adenocarcinomas: a report of two morphologically distinct cases with multimodal omics characterization. (PubMed, Virchows Arch)
One oncocytic case showed HRAS and AKT1 activating mutations; the other basaloid case had a FGFR2::SORB3 fusion. Spatial transcriptomics revealed divergent intra- and inter-tumoral signatures emphasizing the transcriptomic heterogeneity within biphasic components.
Journal
|
BRAF (B-raf proto-oncogene) • FGFR2 (Fibroblast growth factor receptor 2) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • HRAS (Harvey rat sarcoma viral oncogene homolog) • ETV6 (ETS Variant Transcription Factor 6) • CTNNB1 (Catenin (cadherin-associated protein), beta 1)
|
BRAF V600E • BRAF V600 • FGFR2 mutation • FGFR2 fusion • HRAS mutation • AKT1 mutation
2ms
New trial
|
ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • AKT1 (V-akt murine thymoma viral oncogene homolog 1)
|
PIK3CA mutation • PTEN mutation • AKT1 mutation
2ms
Amelia-1: Evexomostat Plus PI3K or AKT Inhibitor and Fulvestrant in Patients With a PI3K Alteration and HR+/Her2- Breast Cancer (clinicaltrials.gov)
P1/2, N=52, Recruiting, SynDevRx, Inc. | Trial completion date: Sep 2026 --> Mar 2027 | Trial primary completion date: Mar 2026 --> Dec 2026
Trial completion date • Trial primary completion date
|
HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • FGF2 (Fibroblast Growth Factor 2) • LEP (Leptin)
|
HER-2 negative • PIK3CA mutation • AKT1 mutation
|
fulvestrant • evexomostat (SDX-7320)
2ms
The Desert Immune Phenotype in Endometrial Carcinoma: A Distinct Subgroup With Poor Prognosis and Targetable Mutations. (PubMed, Mod Pathol)
The Desert immune phenotype, as identified on routine H&E-slides with moderate agreement, is a biologically distinct and prognostically significant subset of EC. Future work to improve reproducibility is essential to validate its potential for clinical use, both for risk stratification and for guiding immunotherapy.
Journal • IO biomarker
|
AKT1 (V-akt murine thymoma viral oncogene homolog 1) • CTNNB1 (Catenin (cadherin-associated protein), beta 1)
|
AKT1 mutation
2ms
Clinicogenomic Landscape and Function of PIK3CA, AKT1, and PTEN Mutations in Breast Cancer. (PubMed, JCO Precis Oncol)
Here, we present the landscape of PIK3CA, AKT1, and PTEN alterations in, to our knowledge, the largest clinical cohort examined to date. The functional complexity of rare PTEN variants underscores the need for functional validation by tools such as DMS. Rare AKT pathway variants may predict clinical benefit from AKT inhibitors and warrant further clinical investigation.
Journal
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • AKT1 (V-akt murine thymoma viral oncogene homolog 1)
|
PIK3CA mutation • PTEN mutation • AKT1 mutation
|
FoundationOne® CDx
|
fulvestrant • Truqap (capivasertib)
2ms
Next-generation sequencing methodologies to identify patients for targeted therapy: focus on HR+/HER2- metastatic breast cancer. (PubMed, Pathologica)
In this review, we discuss the clinical and biological significance of PI3K pathway alterations in HR+/HER2- mBC, focusing on tumors that progress following endocrine therapy and CDK4/6 inhibitor treatment. We then highlight how different diagnostic strategies, including sample type, testing methodology, and timing, can improve the identification of patients who are eligible for targeted therapies and promote the effective integration of molecular diagnostics into routine clinical care.
Review • Journal • Next-generation sequencing
|
HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • AKT1 (V-akt murine thymoma viral oncogene homolog 1)
|
HR positive • HER-2 negative • PIK3CA mutation • PTEN mutation • AKT1 mutation • HR positive + HER-2 negative
2ms
Clinically actionable alterations in Indian breast cancer patients derived through whole transcriptome sequencing. (PubMed, Indian J Med Res)
Fusion transcript analysis identified 91 recurrent fusions, including novel partners with ERBB2, MED1, and CDK12, suggesting the possibility of unique molecular events. Interpretation and conclusions This study demonstrates that Indian breast cancer patients exhibit molecular subtypes and actionable mutations comparable to Caucasian cohorts.
Review • Journal • BRCA Biomarker
|
HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • FGFR2 (Fibroblast growth factor receptor 2) • PTEN (Phosphatase and tensin homolog) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • CDK12 (Cyclin dependent kinase 12) • MBD4 (Methyl-CpG Binding Domain 4, DNA Glycosylase)
|
HER-2 positive • TP53 mutation • BRCA2 mutation • ER positive • BRCA1 mutation • PIK3CA mutation • HER-2 expression • PTEN mutation • FGFR2 mutation • AKT1 mutation
|
Prosigna® Breast Risk of Recurrence (ROR) Test
3ms
New P1/2 trial • First-in-human
|
PD-L1 (Programmed death ligand 1) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4) • CD4 (CD4 Molecule)
|
EGFR mutation • PIK3CA mutation • EGFR L858R • EGFR exon 19 deletion • AKT1 mutation
|
Tagrisso (osimertinib) • Truqap (capivasertib)