ATM mutation

Biologically, CD38-negative cnMCLs appear to be more likely driven by CD38-independent, alternative signaling pathways. From a clinical perspective, identification of CD38-negative cnMCLs by flow cytometry may help recognizing patients at increased risk for adverse genetic features, including TP53 inactivation.

Patients with high DU showed diverse mutational characteristics, which may reflect the heterogeneous nature of MM and contribute to inferior survival outcomes.

P1, N=66, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Mar 2026 --> Mar 2027

We also found that karyotype has limited utility in the setting of NB. Based on this data, we developed an institutional workflow for NB, including MYCN FISH, CMA, and NGS.

The patient was treated with an oxaliplatin-based regimen (mFOLFOX6), modified due to comorbidities, achieving disease stabilization...The presence of pathogenic variants in DNA damage response (DDR) genes (BLM and ATM) suggests a defect in homologous recombination, providing a rationale for platinum-based therapy. We discuss the implications of BLM mutations on therapeutic selection, potential immune checkpoint interactions, and the role of synthetic lethality in management.

Partial response was observed in 7/11 (63.64%) patients with concurrent DNA damage repair gene mutations in the immunotherapy arm. As a prospective study in PDAC identifying a potential biomarker beyond mismatch repair deficiency for benefit from immunotherapy, these data highlight an actionable subgroup of mPDAC.

P=N/A, N=737, Active, not recruiting, Mayo Clinic | Enrolling by invitation --> Active, not recruiting

However, there was no statistical significance in the progression-free survival between cases with epithelial and mesenchymal phenotypes. CCA-UT are aggressive tumors with a heterogeneous molecular profile, underscoring the role of molecular analysis in identifying potential therapeutic options for the treatment of this pernicious tumor.

Missense mutations were the predominant alteration type across groups. These findings suggest that TP53 pathway alterations may be associated with ancestry- and treatment-specific clinical patterns in EOCRC and illustrate how AI-enabled integrative analytic frameworks can facilitate hypothesis generation and prioritize candidate biomarkers for future validation in precision oncology.

P=N/A, N=1368, Recruiting, Icahn School of Medicine at Mount Sinai | Trial completion date: Nov 2033 --> Jan 2033 | Trial primary completion date: Nov 2033 --> Jan 2033

Comparative analyses with other gallbladder carcinoma subtypes revealed GBASC to have distinct clinical phenotypes, molecular alterations, functional characteristics, and enriched signaling pathways. Moreover, there is an urgent need for standardized treatment protocols.

Based on these findings, pembrolizumab was initiated as first-line therapy...Our findings underscore that alternative biomarkers, such as somatic mutations in DNA repair genes including MSH2 and ATM, may predict unexpected responses to immune checkpoint blockade and inform therapeutic decisions, even in the context of MSS and borderline TMB. Broader implementation of molecular profiling is warranted to identify such patients.