SFTPA1 (Surfactant Protein A1)

RNA-seq analysis enabled integration of transcriptomic findings into coherent biological themes. These findings provide mechanistic insights into oxaliplatin's hematologic toxicity linking bone marrow failure (potentially reversible) via interconnected inflammatory and metabolic pathways and may inform therapeutic strategies to minimize or restore myelosuppression in cancer patients.

This study supports integrating comprehensive ctDNA assays into standard diagnostic and treatment pathways for AC using large gene panels. TP53, SMAD4, SPTA1, and GNAS mutations serve as prospective tumor-specific molecular classifiers for histological grade, while germline variants in NOTCH4 and BARD1 may further influence disease biology, with ZFHX3, ADGRA2, POLE, and TCF3 affecting grade stratification. Overall cfDNA concentration may serve as a potential prognostic biomarker in AC.

P2, N=30, Not yet recruiting, Assistance Publique - Hôpitaux de Paris

Comprehensive molecular profiling in a MTB setting reveals distinct and therapeutically relevant mutational patterns across urologic cancers. These data support the integration of MTBs into clinical workflows and highlight the potential of co-mutational signatures to guide personalized treatment strategies.

A prognostic model utilizing the RS value was successfully proposed. Meanwhile, we identified PDIA3, PGF, and GRP as novel treatment biomarkers for THCA.

Drug sensitivity analysis revealed enhanced efficacy of agents like selumetinib in high-APOA1 tumors. This integrated, cross-layer evidence positions APOA1 as a tumor suppressor and actionable biomarker in LUAD, with implications for early detection, therapeutic stratification, and immunomodulatory strategies.

Collectively, the findings highlight that EVELC-M5 in conjunction with HNCIB is an effective diagnostic toolset for detecting early lung cancer and substantially promotes its diagnosis. Trial Registration: ClinicalTrials.gov identifier: ChiCTR2300072317.

Gene enrichment analysis also indicated that SFTPC expression was in parallel with elevated expressions of mitochondrial energy biosynthesis-related genes and reduced IgE/IgG-mediated immunity-related genes. In conclusion, SFTPC upregulation is associated with disease progression and patient survival outcomes, possibly through enhancing ATP overproduction and suppressing antitumor immunity.

Interestingly, co-expression of SP-A1 or SP-A2 WT resulted in an increased expression of the mutated proteins, restored a proper oligomerization profile, and partially restored SP-A secretion. This study reveals the beneficial effect of SP-A WT on oligomerization and secretion of mutant SP-A suggesting that SP-A may be studied as a potential targeted treatment in ILD linked to SP-A molecular variations.

This study indicates that PD-L1 expression levels are significantly associated with specific genomic alterations and clinical outcomes in patients with NSCLC. Particularly in evaluating the efficacy of ICI therapy, the combined biomarker of PD-L1 and TMB shows important clinical application value.

Penetrance for the first event is 50% at 60 years old, rising to 89.3% at 80. Penetrance for lung cancer reached 50% at age 80, earliest case diagnosed at age 30.

Clustered mutations (e.g., doublet-base substitutions, multi-base substitutions, and kataegis) influenced LUAD evolution and were overrepresented in driver genes. These findings provide insights into the dynamic nature of genomic alterations during lung tumorigenesis.