Genomic characteristics of Russian patients with non-small cell lung cancer: Results of next-generation sequencing testing DOI Creative Commons
К. К. Лактионов, M. Gordiev, К. А. Саранцева

и другие.

Meditsinskiy sovet = Medical Council, Год журнала: 2024, Номер 21, С. 104 - 112

Опубликована: Дек. 22, 2024

Introduction. Next-generation sequencing (NGS) is a molecular approach that can provide clinicians with comprehensive information about patient’s profile, which an important aspect of the effective application targeted therapy. Aim. To assess frequency tumor somatic mutations in non-small cell lung cancer (NSCLC) cohort Russian patients to subsequently optimize diagnostics and personalize treatment strategies. Materials methods. The study included results NGS testing from 1.400 NSCLC between March 17, 2023, July 22, 2024. Several other clinics across country participated this multicenter study. Panels various options for identifying potential genetic alterations were used. An analysis was conducted based on panel used, clinical characteristics patients, considering geographical ethnographic diversity regions country. Results. Mutations most frequently found KRAS (17.9%) EGFR (15.8%) genes, particularly among never-smoker women. rare such as RET, MET, NTRK corresponds literature data underscores need expand group being tested these alterations. However, deletions exon 19 (12.7%) G12C (16.4%) also smokers. highlight inadequate scope existing testing, partly due lack co-mutation assessment primary resistance mutations, while demonstrating possible differences when using diagnostic panels. Conclusion. implementation public health systems allows more personalized selecting strategies patients. obtained be used predictive models drug distribution.

Язык: Английский

How do I treat dMMR/MSI gastro-oesophageal adenocarcinoma in 2025? A position paper from the EORTC-GITCG gastro-esophageal task force DOI Creative Commons
Christelle de la Fouchardière, Antonella Cammarota, Magali Svrcek

и другие.

Cancer Treatment Reviews, Год журнала: 2025, Номер 134, С. 102890 - 102890

Опубликована: Фев. 1, 2025

In less than a decade, immune checkpoint inhibitors (ICIs) have transformed the management of mismatch repair-deficient (dMMR) and microsatellite instability-high (MSI) cancers. However, beyond colorectal cancer (CRC), much evidence is mostly derived from non-randomized phase II studies or post-hoc analyses broader clinical trials. dMMR/MSI tumours represent specific subgroup gastro-esophageal adenocarcinomas (GEA), accounting for approximately 9 % cases, with higher prevalence in early-stage compared to advanced-stage disease older female patients. These are predominantly sporadic, often linked MLH1 promoter methylation, rarely exhibit HER2 overexpression/ERBB2 amplification other oncogenic drivers. The treatment landscape early stage GEA likely change substantially soon, as ICIs shown high pathological complete response (pCR) rates small trials, raising questions on optimisation neoadjuvant therapy, paving way organ preservation. standard untreated patients advanced chemotherapy + ICI irrespectively PDL-1 status. role chemotherapy-free regimen consisting CTLA-4 plus PD-1 remains undetermined. This review addresses these emerging questions, offering expert opinions insights into future therapeutic GEA.

Язык: Английский

Процитировано

2
Core variables for real-world clinicogenomic data collection in precision oncology DOI Creative Commons
Rodrigo Dienstmann, Allan Hackshaw, Jean‐Yves Blay

и другие.

ESMO Real World Data and Digital Oncology, Год журнала: 2025, Номер 7, С. 100117 - 100117

Опубликована: Фев. 27, 2025

Язык: Английский

Процитировано

0
Precision Oncology - Guideline of the Austrian, German and Swiss Societies for Hematology and Medical Oncology DOI Creative Commons
Damian Rieke, Michael Bitzer, Annalen Bleckmann

и другие.

European Journal of Cancer, Год журнала: 2025, Номер 220, С. 115331 - 115331

Опубликована: Фев. 28, 2025

Язык: Английский

Процитировано

0
Molecular tumour board in gastrointestinal cancers DOI Creative Commons

L. Boscolo Bielo,

Edoardo Crimini,

M. Repetto

и другие.

ESMO Open, Год журнала: 2025, Номер 10(4), С. 104510 - 104510

Опубликована: Март 19, 2025

Язык: Английский

Процитировано

0
Copenhagen Prospective Personalized Oncology (CoPPO) – Impact of comprehensive genomic profiling in more than 2000 patients in a Phase I setting DOI
Laïla Belcaid, Martin Højgaard,

Ida Elisabeth Viller Tuxen

и другие.

Annals of Oncology, Год журнала: 2025, Номер unknown

Опубликована: Апрель 1, 2025

Язык: Английский

Процитировано

0
Targeting base excision repair in precision oncology DOI Creative Commons
Nicola P. Montaldo, Hilde Nilsen, Diana L. Bordin

и другие.

DNA repair, Год журнала: 2025, Номер 149, С. 103844 - 103844

Опубликована: Май 1, 2025

Язык: Английский

Процитировано

0
Benchmarking large language models GPT-4o, llama 3.1, and qwen 2.5 for cancer genetic variant classification DOI Creative Commons

Kuan‐Hsun Lin,

Tzu-Cheg Kao,

Lei-Chi Wang

и другие.

npj Precision Oncology, Год журнала: 2025, Номер 9(1)

Опубликована: Май 14, 2025

Classifying cancer genetic variants based on clinical actionability is crucial yet challenging in precision oncology. Large language models (LLMs) offer potential solutions, but their performance remains underexplored. This study evaluates GPT-4o, Llama 3.1, and Qwen 2.5 classifying from the OncoKB CIViC databases, as well a real-world dataset derived FoundationOne CDx reports. GPT-4o achieved highest accuracy (0.7318) distinguishing clinically relevant of unknown significance (VUS), outperforming (0.5731) 3.1 (0.4976). LLMs demonstrated better concordance with expert annotations for strong evidence exhibited greater inconsistencies those weaker evidence. All three showed tendency to assign higher levels, suggesting propensity overclassification. Prompt engineering significantly improved accuracy, while retrieval-augmented generation (RAG) further enhanced performance. Stability analysis across 100 iterations revealed consistency system than OncoKB. These findings highlight promise variant classification underscoring need optimization improve consistency, applicability.

Язык: Английский

Процитировано

0
Bridging the Gap: Optimizing Genomic Testing in Metastatic Prostate Cancer DOI
Cristiane Decat Bergerot, Paulo Gustavo Bergerot,

Ros Eeles

и другие.

JCO Precision Oncology, Год журнала: 2025, Номер 9

Опубликована: Май 1, 2025

Язык: Английский

Процитировано

0
Pancreatic incidentaloma: incidental findings from history towards the era of liquid biopsy DOI Creative Commons
Matthias Löhr, Miroslav Vujasinović, Nikolaos Kartalis

и другие.

eGastroenterology, Год журнала: 2024, Номер 2(3), С. e100082 - e100082

Опубликована: Сен. 1, 2024

This report provides an overview of the most common diagnostic methods that bring to light incidental findings pancreatic cancer. It reviews impact medical imaging and genetic assessment on definitions incidentaloma pancreas. For different approaches (eg, MRI CT) for affections (cysts/intraductal papillary mucinous neoplasia, solid lesions), specific guidelines have been proposed some are established. Based this, we summarise differences between traditional with those applied in PANCAID project. Biomarkers, predispositions, mutations circulating tumour cells give rise levels concern. The final part discusses risks opportunities associated further procedures surgical interventions. From ethical perspective, urging question is, can a screening based liquid biopsy blood samples open gateway prevention cancer-even if morbidity lethality today's interventions is still very high?

Язык: Английский

Процитировано

2
Genomic characteristics of Russian patients with non-small cell lung cancer: Results of next-generation sequencing testing DOI Creative Commons
К. К. Лактионов, M. Gordiev, К. А. Саранцева

и другие.

Meditsinskiy sovet = Medical Council, Год журнала: 2024, Номер 21, С. 104 - 112

Опубликована: Дек. 22, 2024

Introduction. Next-generation sequencing (NGS) is a molecular approach that can provide clinicians with comprehensive information about patient’s profile, which an important aspect of the effective application targeted therapy. Aim. To assess frequency tumor somatic mutations in non-small cell lung cancer (NSCLC) cohort Russian patients to subsequently optimize diagnostics and personalize treatment strategies. Materials methods. The study included results NGS testing from 1.400 NSCLC between March 17, 2023, July 22, 2024. Several other clinics across country participated this multicenter study. Panels various options for identifying potential genetic alterations were used. An analysis was conducted based on panel used, clinical characteristics patients, considering geographical ethnographic diversity regions country. Results. Mutations most frequently found KRAS (17.9%) EGFR (15.8%) genes, particularly among never-smoker women. rare such as RET, MET, NTRK corresponds literature data underscores need expand group being tested these alterations. However, deletions exon 19 (12.7%) G12C (16.4%) also smokers. highlight inadequate scope existing testing, partly due lack co-mutation assessment primary resistance mutations, while demonstrating possible differences when using diagnostic panels. Conclusion. implementation public health systems allows more personalized selecting strategies patients. obtained be used predictive models drug distribution.

Язык: Английский

Процитировано

0