Endometrial carcinomas with SB-GN represent a distinct and aggressive tumor group characterized by solid growth pattern, prominent necrosis, frequent basaloid morphology, high rates of CTNNB1 mutations, and aberrant β-catenin staining. Our results demonstrate that endometrial carcinomas with SB-GN and PiMHECs share similar clinicopathologic and molecular profiles, supporting a unified biological spectrum.

24 hours ago

Journal

TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PGR (Progesterone receptor) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • POLE (DNA Polymerase Epsilon) • CTNNB1 (Catenin (cadherin-associated protein), beta 1)

TP53 mutation • PIK3CA mutation • PTEN mutation • ARID1A mutation • POLE mutation

Genomic pathogenic alterations in the SWI/SNF complex compromise the outcomes of immunotherapy in Chinese patients with KRAS-mutant NSCLC by downregulating STING expression. (PubMed, BMC Med)

In KRAS-mut NSCLCs with or without STK11/KEAP1 mutations, the GPAs in the DNA-binding genes ARID1A/ARID2 affected the outcomes of immunotherapy, possibly through the downregulation of STING expression.

1 day ago

Journal • IO biomarker

KRAS (KRAS proto-oncogene GTPase) • STK11 (Serine/threonine kinase 11) • ARID1A (AT-rich interaction domain 1A) • KEAP1 (Kelch Like ECH Associated Protein 1) • PBRM1 (Polybromo 1) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • ARID1B (AT-Rich Interaction Domain 1B) • STING (stimulator of interferon response cGAMP interactor 1) • ARID2 (AT-Rich Interaction Domain 2)

KRAS mutation • EGFR wild-type • ARID1A mutation • STK11 mutation • KEAP1 mutation

Targeting WEE1 in ARID1A/TP53 Concurrent Mutant Colorectal Cancer by Exploiting RLoop Accumulation and DNA Repair Deficiencies. (PubMed, Adv Sci (Weinh))

Moreover, though CRISPR knockout screening, it is found that concurrent AKT blockade significantly augmented the antitumor effects of the WEE1 inhibitor. In conclusion, WEE1 inhibition offers a promising therapeutic strategy for ARID1A/TP53 concurrent mutant CRC.

5 days ago

Journal

TP53 (Tumor protein P53) • ARID1A (AT-rich interaction domain 1A) • DRD (DNA Repair Deficiency) • ATF3 (Activating Transcription Factor 3)

TP53 mutation • ARID1A mutation • DDR

Descriptive Genomic Analysis of Ampullary Carcinoma Utilizing the AACR Project GENIE Dataset. (PubMed, Curr Issues Mol Biol)

Reduced survival rates were seen in populations with the TP53 or KRAS mutation. This study provides a detailed descriptive genomic landscape of ampullary carcinoma, highlighting frequent mutations between patient groups and the mutational burden of the DNA damage response pathway in ampullary cancer, laying important groundwork for the development of therapeutic targets and more individualized treatment regimens.

9 days ago

Journal • Tumor mutational burden

HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ARID1A (AT-rich interaction domain 1A) • KMT2D (Lysine Methyltransferase 2D) • SMAD4 (SMAD family member 4) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • APC (APC Regulator Of WNT Signaling Pathway)

TP53 mutation • KRAS mutation • PIK3CA mutation • HER-2 mutation • ARID1A mutation

17d

Establishment of novel cholangiocarcinoma cell lines with ARID1A deficiency and preclinical validation of synthetic lethality therapies. (PubMed, Sci Rep)

Based on this molecular finding, we performed drug screening and demonstrated that these ARID1A-deficient CCA cell lines are hypersensitive to inhibition by both PI3K/AKT and PARP inhibitors. The SiSP-K01 and SiSP-K05 cell lines are therefore critical new preclinical models suitable for functional studies of ARID1A deficiency and the development of targeted therapies for CCA.

17 days ago

Preclinical • Journal • PARP Biomarker

ARID1A (AT-rich interaction domain 1A)

ARID1A mutation

20d

Breaking epigenetic shackles: targeting ARID1A methylation and the PI3K/AKT/mTOR-PD-L1 axis to overcome immune escape in gastric cancer. (PubMed, PeerJ)

Combined with its association with immune signatures and PD-L1 upregulation, ARID1A hypermethylation emerges as a candidate biomarker for predicting immune checkpoint blockade (ICB) responsiveness and patient stratification in GC. Future studies should evaluate 5-aza-CdR-ICB-AKT inhibitor regimens in advanced models to guide clinical translation.

20 days ago

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

ARID1A (AT-rich interaction domain 1A)

ARID1A mutation

26d

Deciphering Cancer Evolution Through Genomic Profiling of Patient-Derived Xenograft Together with Matched Primary Gallbladder Cancer. (PubMed, Dig Dis Sci)

We successfully established a PDX model of gallbladder adenosquamous carcinoma, with KRAS (G12V) identified as a potential initiating mutation, and the probable tumor-initiating cell is derived from an EpCAM-positive putative cancer stem cell. Sequential analysis revealed the emergence of resistant clones and adaptive selection of chromatin remodelers in the PDX model.

26 days ago

Journal

KRAS (KRAS proto-oncogene GTPase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1) • LRP1B (LDL Receptor Related Protein 1B) • MUC1 (Mucin 1) • ARID2 (AT-Rich Interaction Domain 2) • EPCAM (Epithelial cell adhesion molecule) • TP63 (Tumor protein 63) • AQP1 (Aquaporin 1) • MUC5AC (Mucin 5AC) • S100P (S100 calcium binding protein P)

KRAS mutation • PIK3CA mutation • ARID1A mutation • KRAS G12

29d

Mutation profile and molecular heterogeneity in mismatch repair deficient endometrial carcinoma. (PubMed, Front Oncol)

As for dMMR subgroups (MLH1 me+, Lynch and Lynch-like), KEAP1 and FBXW7 mutations, which may have potential predictive effect of immunotherapy, were enriched in the Lynch subgroup. dMMR ECs has distinctive genomic profile with molecular heterogeneity, which may have potential prognostic and therapeutic implications.

29 days ago

Journal • Mismatch repair • Tumor mutational burden • IO biomarker • dMMR

KRAS (KRAS proto-oncogene GTPase) • TMB (Tumor Mutational Burden) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • KEAP1 (Kelch Like ECH Associated Protein 1) • POLE (DNA Polymerase Epsilon) • MSH2 (MutS Homolog 2) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • MSH3 (MutS Homolog 3)

KRAS mutation • TMB-H • MSI-H/dMMR • PTEN mutation • ARID1A mutation • POLE mutation • KEAP1 mutation

Comprehensive Analysis of Genomic Variations in Pancreatic Adenocarcinoma by Race. (PubMed, Cancer Med)

Asian patients with PDAC had fewer CDKN2A mutations, a genotype linked to improved survival and reduced tumor aggressiveness. Genomic profiles were otherwise similar across races, suggesting that disparities are likely driven by non-genomic factors beyond DNA sequence alterations, such as epigenetic modifications or posttranslational changes. Integrating multiomic and clinical data is crucial to better understand and address these disparities.

1 month ago

Journal • Tumor mutational burden

KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ARID1A (AT-rich interaction domain 1A) • KMT2D (Lysine Methyltransferase 2D) • RNF43 (Ring Finger Protein 43) • SMAD4 (SMAD family member 4)

TP53 mutation • KRAS mutation • ARID1A mutation

Nivolumab for the Treatment of Metastatic or Unresectable Solid Tumors With ARID1A Mutation and CXCL13 Expression (clinicaltrials.gov)

P2, N=16, Active, not recruiting, M.D. Anderson Cancer Center | Recruiting --> Active, not recruiting | N=30 --> 16

1 month ago

Enrollment closed • Enrollment change

ARID1A (AT-rich interaction domain 1A)

ARID1A mutation

Opdivo (nivolumab)

Genomic Features of Cervical Cancer in Okinawa, Japan: Preliminary Findings From 23 Patients. (PubMed, Cancer Genomics Proteomics)

Gene mutation profiles of cervical cancer in Okinawa may differ from those in other regions.

1 month 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) • FGFR4 (Fibroblast growth factor receptor 4) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • TSC1 (TSC complex subunit 1) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • NOTCH3 (Notch Receptor 3) • EP300 (E1A binding protein p300) • USP6 (Ubiquitin Specific Peptidase 6)

TP53 mutation • PIK3CA mutation • PTEN mutation • ARID1A mutation

Hepatocellular carcinoma arising from adenoma with ARID1A mutation in an adolescent patient with ATM germline mutation. (PubMed, J Surg Case Rep)

We hypothesize that impaired DNA repair from the ATM mutation facilitated the ARID1A mutation, driving malignant transformation. This case underscores the importance of recognizing malignant potential in hepatic adenomas, utilizing appropriate imaging and pathology, and monitoring for associated cancers in genetically predisposed patients.

1 month ago

Journal

ATM (ATM serine/threonine kinase) • ARID1A (AT-rich interaction domain 1A)

ATM mutation • ARID1A mutation