News - ARID1A mutation

Divergent evolution of hepatocellular carcinoma genomes in chimpanzees and humans. (PubMed, Evol Med Public Health)

Divergent evolutionary patterns highlight species-specific oncogenic routes while underscoring conserved pathways. Comparative primate cancer genomics offers novel insights into cancer evolution, biomarkers, and therapeutic targets.

9 days ago

Journal • Tumor mutational burden

TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • ARID1A (AT-rich interaction domain 1A) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • TSC2 (TSC complex subunit 2) • FAT1 (FAT atypical cadherin 1) • VIM (Vimentin) • FAT4 (FAT Atypical Cadherin 4) • TGFB1 (Transforming Growth Factor Beta 1)

TP53 mutation • TMB-H • ARID1A mutation

10d

Actionable Genomic Landscape of Biliary Tract Cancer in the Indian Population. (PubMed, Oncologist)

This study provides a comprehensive molecular profiling of BTCs in the Indian population, revealing key genomic alterations, subtype-specific differences, and associations with immune features. The findings underscore the importance of molecular profiling in guiding personalized treatment strategies.

10 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) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • STK11 (Serine/threonine kinase 11) • ARID1A (AT-rich interaction domain 1A) • SMAD4 (SMAD family member 4) • TGFB1 (Transforming Growth Factor Beta 1)

PD-L1 expression • KRAS mutation • HER-2 amplification • PIK3CA mutation • IDH1 mutation • ARID1A mutation • STK11 mutation • PD-L1 negative

11d

Genetic Evolution of Melanoma: Comparative Analysis of Candidate Gene Mutations in Healthy Skin, Nevi, and Tumors from the Same Patients. (PubMed, Int J Mol Sci)

Melanoma-private mutations in genes such as ARID1A, ARID2, PIK3CA, and CDKN2A indicated additional late events contributing to malignant progression. Overall, this study supports a model in which many melanomas evolve from pre-existing nevi through sequential acquisition and clonal amplification of somatic mutations, while also revealing heterogeneous evolutionary trajectories.

11 days ago

Clinical • Journal • Tumor mutational burden

BRAF (B-raf proto-oncogene) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • NRAS (Neuroblastoma RAS viral oncogene homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ARID1A (AT-rich interaction domain 1A) • ARID2 (AT-Rich Interaction Domain 2)

BRAF V600E • NRAS mutation • PIK3CA mutation • BRAF V600 • ARID1A mutation • NRAS Q61

12d

Genetics of High-Grade Endometrioid Adenocarcinoma of the Ovary With Yolk Sac Differentiation: A Case Report. (PubMed, Cureus)

This case highlights the diagnostic challenges posed by rare ovarian tumors and emphasizes the role of molecular profiling in clarifying tumor phenotype. Pathologists should be aware of the potential association between epithelial tumors and yolk sac tumor differentiation, particularly in older patients, to avoid misdiagnosis and to ensure appropriate therapeutic strategies.

12 days ago

Journal

PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • ARID1A (AT-rich interaction domain 1A) • CTNNB1 (Catenin (cadherin-associated protein), beta 1)

PIK3CA mutation • ARID1A mutation

14d

Multiple myeloma risk linked to DNA damage response genes. (PubMed, J Hematol Oncol)

Our results suggest expansion of the phenotypic spectrum of some of these DDRG to include MM. The identification of these germline predisposition genes opens the avenue for targeted screening of higher risk individuals especially those with young-onset or a family history of plasma cell gammopathies.

14 days ago

Journal

TP53 (Tumor protein P53) • ATM (ATM serine/threonine kinase) • ARID1A (AT-rich interaction domain 1A) • CHEK2 (Checkpoint kinase 2)

TP53 mutation • ATM mutation • ARID1A mutation • CHEK2 mutation

17d

Loss of ARID1A expression is associated with worse survival and reduced tumor infiltrating lymphocytes in advanced clear cell renal cell carcinoma. (PubMed, Clin Transl Oncol)

Low ARID1A expression (protein and mRNA) is a marker of poor prognosis in ccRCC, and is associated with shorter survival and reduced TILs, but immune cells linked to ICI response are increased offering an immune advantage to ARID1ALow patients who receive ICI therapy. ARID1A IHC provides comparable results to bulk mRNA analysis, suggesting that it can be reliably used to explore ARID1A as a potential ICI biomarker in ccRCC.

17 days ago

Journal • Tumor-infiltrating lymphocyte • IO biomarker

ARID1A (AT-rich interaction domain 1A)

ARID1A mutation

21d

Targeting Ovarian Neoplasms: Subtypes and Therapeutic Options. (PubMed, Medicina (Kaunas))

Targeting lipid mediators could be particularly effective in relapsed OCs, as modulating innate immune cells within the tumor microenvironment (TME) may enhance immune surveillance and improve antitumor responses. Integrating genetic and microenvironmental insights offers a promising direction for developing more effective and personalized therapeutic strategies in OC.

21 days ago

Review • Journal

KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • ARID1A (AT-rich interaction domain 1A) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4)

ARID1A mutation

22d

MAPK Pathway Mutations Emerge in Mutant-IDH1 Inhibitor-Resistant Cholangiocarcinoma and Attenuate the Interferon Response. (PubMed, Clin Cancer Res)

MAPK-pathway alterations represent a recurrent mechanism of resistance to mIDH1 inhibition in ICC, while emergent IDH1/IDH2 mutations appear infrequent. Functional data suggest that MAPK-mediated resistance may involve impaired IFN signaling. These results support MAPK-directed combination strategies and highlight the utility of ctDNA profiling to identify predictive and resistance biomarkers in mIDH1-driven ICC.

22 days ago

Journal

KRAS (KRAS proto-oncogene GTPase) • NRAS (Neuroblastoma RAS viral oncogene homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • ARID1A (AT-rich interaction domain 1A) • NF1 (Neurofibromin 1) • IFNG (Interferon, gamma)

KRAS mutation • NRAS mutation • IDH1 mutation • IDH2 mutation • ARID1A mutation

Tibsovo (ivosidenib)

28d

Integrating multi-omics and clinical features to model survival in epithelial ovarian cancer subtypes. (PubMed, Sci Rep)

Integrating multivariate predictive modeling with biological interpretation provides a comprehensive framework for personalized risk stratification and treatment decision-making in EOC. The identified prognostic biomarkers, such as TPM4, SDHD, MUC16, and BCL6, represent potential targets for future studies and therapeutic interventions.

28 days ago

Journal

TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • BCL6 (B-cell CLL/lymphoma 6) • WT1 (WT1 Transcription Factor) • MUC16 (Mucin 16, Cell Surface Associated) • FAT3 (FAT Atypical Cadherin 3) • ZFHX3 (Zinc Finger Homeobox 3) • FAT4 (FAT Atypical Cadherin 4) • CSMD3 (CUB And Sushi Multiple Domains 3) • HOXA11 (Homeobox A11) • SDHD (Succinate Dehydrogenase Complex Subunit D) • TPM4 (Tropomyosin 4)

TP53 mutation • PIK3CA mutation • PTEN mutation • ARID1A mutation

28d

A Deeper Dive into POLE-Mutated Endometrial Carcinomas: The Contributions and Consequences of Tumor Mutational Burden. (PubMed, Am J Surg Pathol)

Although our cohort is small, the morphology of POLEmut ECs appears to be influenced by TMB, a phenomenon not yet described in the evolving landscape of these tumors. Taken in combination with differences in underlying genomic signatures, these findings provide an interesting springboard for better understanding POLEmut EC pathobiology.

28 days ago

Journal • Tumor mutational burden • BRCA Biomarker

PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • NF1 (Neurofibromin 1) • POLE (DNA Polymerase Epsilon) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • ATRX (ATRX Chromatin Remodeler)

TMB-H • PIK3CA mutation • PTEN mutation • ARID1A mutation • POLE mutation

Analysis of clinicopathological and molecular characteristics of EBV-associated gastric cancer. (PubMed, Discov Oncol)

EBV-GC is characterized by distinct clinicopathological and molecular features. Pathological examination, immunophenotyping, and NGS provide significant value for diagnosis and therapeutic direction.

1 month ago

Journal

HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MSI (Microsatellite instability) • ARID1A (AT-rich interaction domain 1A)

TP53 mutation • EGFR mutation • MSI-H/dMMR • PIK3CA mutation • ARID1A mutation

A case of primary ovarian clear cell carcinoma with ETV6::NTRK3 fusion. (PubMed, Int Cancer Conf J)

This case demonstrates that NTRK fusion gene, in conjunction with ARID1A mutation, may contribute to clear cell carcinoma development, highlighting the need for further investigation into the prevalence and significance of NTRK fusions in ovarian clear cell carcinomas. The identification of this actionable genetic alteration provides potential targeted therapeutic options should disease recurrence occur.

1 month ago

Journal • Tumor mutational burden

TMB (Tumor Mutational Burden) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • ARID1A (AT-rich interaction domain 1A) • ETV6 (ETS Variant Transcription Factor 6) • NTRK (Neurotrophic receptor tyrosine kinase)

ARID1A mutation • TMB-L • NTRK fusion