^
4d
Integrated DNA and RNA profiling refines prognostic stratification independent of therapeutic actionability in cholangiocarcinoma. (PubMed, BMC Cancer)
Integrated genomic and transcriptomic profiling refines prognostic stratification in cholangiocarcinoma independent of therapeutic actionability. KRAS-TP53 co-mutation and the Mesenchymal transcriptomic subtype represent independent high-risk markers detectable on routine FFPE tissue. These features complement actionable alterations and may inform patient selection and clinical trial design.
Journal • MSi-H Biomarker • IO biomarker
|
HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • MSI (Microsatellite instability) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1)
|
TP53 mutation • KRAS mutation • MSI-H/dMMR • HER-2 amplification • IDH1 mutation • FGFR2 mutation • FGFR2 fusion
6d
Long-term survival without high cancer risk in a cohort of 24 patients with Apert syndrome. (PubMed, Eur J Hum Genet)
We conclude that Apert syndrome is not, in many affected individuals, associated either with substantial shortening of lifespan, or with a high risk of developing particular types of cancer. Explanation of the lack of strong cancer predisposition, despite the oncogenic nature of the FGFR2 mutations, may lie in the different signalling relationship that a mutant cell has with its neighbours when the mutation is present constitutionally, compared to occurrence as a somatic change.
Journal
|
FGFR2 (Fibroblast growth factor receptor 2)
|
FGFR2 mutation
6d
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
6d
Overexpression of FGFR2 in Mandibular Ameloblastoma Is Potentially Associated with Gene Amplification and Deletion. (PubMed, Int J Mol Sci)
Notably, 50.8% of cases exhibited concurrent FGFR2 amplification and overexpression, and all cases with FGFR2 gene deletion also demonstrated FGFR2 overexpression. These findings suggest that FGFR2 gene amplification and deletion may contribute to FGFR2 overexpression and play a significant role in the molecular pathogenesis of mandibular AM.
Journal
|
FGFR2 (Fibroblast growth factor receptor 2)
|
FGFR2 mutation • FGFR2 overexpression
10d
Integrated Multi-Omics Profiling Identifies an Immunotherapy Vulnerable and Prognostic Associated Subtype in Cholangiocarcinoma. (PubMed, Liver Cancer)
We validated ATP2B1 as a novel prognostic biomarker and developed a 160-gene classifier for subtype prediction. The C3 subtype's exceptional ICB response, independent of conventional biomarkers (PD-L1/microsatellite instability/tumor mutational burden), highlights the clinical utility of this classification system in guiding precision immunotherapy for CCA.
Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
|
PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • CD8 (cluster of differentiation 8) • LYVE1 (Lymphatic vessel endothelial hyaluronan receptor 1)
|
TP53 mutation • KRAS mutation • IDH1 mutation • FGFR2 mutation
16d
Immunotherapy and Targeted Therapy for Advanced Biliary Tract Cancer (PubMed, Korean J Gastroenterol)
Systemic chemotherapy with gemcitabine plus cisplatin has remained the standard first-line treatment for more than a decade because most patients are diagnosed at an advanced or unresectable stage, but the associated survival benefit is limited. Accordingly, optimizing patient selection by integrating molecular and immunologic characteristics has become a critical objective for improving clinical outcomes. This review provides an overview of the recent progress in immunotherapy and targeted therapy for BTC, focusing on pivotal clinical trials, therapeutic efficacy, current limitations, and future perspectives for personalized treatment strategies.
Review • Journal • PD(L)-1 Biomarker • IO biomarker
|
HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • PD-1 (Programmed cell death 1)
|
EGFR mutation • HER-2 amplification • IDH1 mutation • FGFR2 mutation • FGFR2 fusion
|
cisplatin • gemcitabine
16d
Molecular findings in thyroid tumors: Practical diagnostic, prognostic, and therapeutic insights. (PubMed, Semin Diagn Pathol)
In each molecular category, secondary alterations can occur; most notably TERT promoter and TP53 mutations occur with increasing frequency in high-grade differentiated, poorly differentiated, and anaplastic thyroid carcinomas. This article will review the diagnostic, prognostic, and therapeutic significance of molecular alterations across the spectrum of follicular cell derived thyroid tumors and discuss strategies for investigating unusual molecular alterations encountered in clinical practice.
Review • Journal
|
BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • FGFR2 (Fibroblast growth factor receptor 2) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • TERT (Telomerase Reverse Transcriptase)
|
TP53 mutation • BRAF V600E • BRAF V600 • FGFR2 mutation • FGFR2 fusion • ALK fusion
21d
Hallmarks of liver cancer: Therapeutic implications. (PubMed, Cell)
Unlike HCC, roughly 45% of iCCA harbor alterations amenable to precision oncology approaches, including fibroblast growth factor receptor 2 (FGFR2) fusions, isocitrate dehydrogenase 1 (IDH1) mutations, ERBB2 alterations, and BRAF mutations. In this review, we explore how this framework has reshaped liver cancer care and discuss the resulting breakthroughs in management and emerging directions that may further improve therapeutic strategies.
Review • Journal • IO biomarker
|
HER-2 (Human epidermal growth factor receptor 2) • BRAF (B-raf proto-oncogene) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1)
|
BRAF mutation • HER-2 mutation • IDH1 mutation • FGFR2 mutation • FGFR2 fusion
24d
Clinicopathologic features of KRAS G12C-mutated non-small cell lung carcinomas:insights from 279 retrospective cases. (PubMed, Virchows Arch)
KRAS G12C-mutated NSCLC is clinically aggressive and frequently shows solid growth with rhabdoid, plasmacytoid, or SCC-like morphology, which may lead to misclassification and missed genetic testing. Immunohistochemistry and molecular profiling are essential for accurate classification and enabling targeted therapy.
Retrospective data • Journal • PD(L)-1 Biomarker • IO biomarker
|
PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • FGFR3 (Fibroblast growth factor receptor 3) • STK11 (Serine/threonine kinase 11) • NRG1 (Neuregulin 1) • TACC3 (Transforming acidic coiled-coil containing protein 3) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • NKX2-1 (NK2 Homeobox 1) • GNAS (GNAS Complex Locus) • TP63 (Tumor protein 63) • NAPSA (Napsin A Aspartic Peptidase)
|
PD-L1 expression • TP53 mutation • KRAS mutation • KRAS G12C • BRAF mutation • PIK3CA mutation • STK11 mutation • FGFR2 mutation • MET mutation • NRG1 fusion • KRAS G12
28d
Genomic Determinants of Response to Alpelisib Plus Fulvestrant in the SOLAR-1 Trial. (PubMed, Ann Oncol)
Alpelisib plus fulvestrant provides clinical benefit for patients with PIK3CA-altered, HR+, HER2- ABC across a range of concomitant alterations, including those previously implicated in endocrine therapy or CDK4/6i resistance. Machine learning models identified factors including gene mutations that influenced PFS.
Journal • Tumor mutational burden
|
HER-2 (Human epidermal growth factor receptor 2) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • FGFR2 (Fibroblast growth factor receptor 2) • PTEN (Phosphatase and tensin homolog) • FGFR1 (Fibroblast growth factor receptor 1) • RAD21 (RAD21 Cohesin Complex Component)
|
HR positive • HER-2 negative • PIK3CA mutation • FGFR2 mutation
|
Piqray (alpelisib) • fulvestrant
1m
Trial initiation date
|
HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • MSI (Microsatellite instability) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • NTRK (Neurotrophic receptor tyrosine kinase)
|
MSI-H/dMMR • HER-2 overexpression • HER-2 amplification • HER-2 mutation • FGFR2 mutation • FGFR2 fusion
|
5-fluorouracil • oxaliplatin • irinotecan • leucovorin calcium • nanvuranlat (JPH203)
1m
Enrollment change
|
HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • MSI (Microsatellite instability) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • CLDN18 (Claudin 18) • NTRK (Neurotrophic receptor tyrosine kinase)
|
PD-L1 expression • KRAS mutation • MSI-H/dMMR • HER-2 overexpression • BRAF mutation • HER-2 mutation • IDH1 mutation • CLDN18.2 expression • FGFR2 mutation • FGFR2 fusion • IDH mutation + NTRK fusion • NTRK fusion