ESMO Recommendations on clinical reporting of genomic test results for solid cancers

Annals of Oncology, Год журнала: 2024, Номер 35(11), С. 954 - 967

Опубликована: Июль 9, 2024

•These Recommendations cover the preparation of genomic reports to inform clinical decisions for patients with solid cancers.•Recommendations are based on consensus from a multidisciplinary group experts after reviewing available evidence.•The manuscript provides guidance structuring reports, and optimal presentation content each section.•These recommendations relevant most next-generation sequencing assays utilised in practice research.•Recommendations categorised into priority levels (A, B) adapt diverse laboratory contexts. BackgroundGenomic tumour profiling has crucial role management cancers, as it helps selecting prioritising therapeutic interventions prognostic predictive biomarkers, well identifying markers hereditary cancers. Harmonised approaches interpret results testing needed support physicians their decision making, prevent inequalities precision medicine maximise patient benefit cancer options.MethodsThe European Society Medical Oncology (ESMO) Translational Research Precision Medicine Working Group assembled international propose preparing These aim foster best practices integrating within settings. After review evidence, several rounds surveys focused discussions were conducted reach recommendation statements. Only reported. Recommendation statements graded two tiers importance: level A (required maintain common standards reporting) B (optional but necessary achieve ideal practice).ResultsGenomics should present key information front page(s) followed by supplementary one or more appendices. Reports be structured sections: (i) sample details; (ii) assay data analysis characteristics; (iii) sample-specific performance quality control; (iv) alterations functional annotation; (v) actionability assessment matching potential therapy indications; (vi) summary main findings. Specific prepare these sections made.ConclusionsWe set aimed at genomics enhance physician comprehension Communication between ordering professionals reporting is minimise uncertainties optimise impact tests care. Genomic options. The practice). Genomics made. We

Язык: Английский

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ctDNA detection in cerebrospinal fluid and plasma and mutational concordance with the primary tumor in a multicenter prospective study of patients with glioma

Annals of Oncology, Год журнала: 2025, Номер unknown

Опубликована: Фев. 1, 2025

Язык: Английский

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Plasma Cell-Free Tumor Methylome as a Biomarker in Solid Tumors: Biology and Applications

Current Oncology, Год журнала: 2024, Номер 31(1), С. 482 - 500

Опубликована: Янв. 13, 2024

DNA methylation is a fundamental mechanism of epigenetic control in cells and its dysregulation strongly implicated cancer development. Cancers possess an extensively hypomethylated genome with focal regions hypermethylation at CPG islands. Due to the highly conserved nature cancer-specific methylation, detection cell-free plasma using liquid biopsies constitutes area interest biomarker research. The advent next-generation sequencing newer computational technologies have allowed for development diagnostic prognostic biomarkers that utilize profiling diagnose disease stratify risk. Methylome-based predictive can determine response anti-cancer therapy. An additional emerging application these minimal residual monitoring. Several key challenges need be addressed before cfDNA-based become fully integrated into practice. first relates biology stability cfDNA. second concerns clinical validity generalizability methylation-based assays, many which are type-specific. third involves their practicability, stumbling block translating from bench clinic. Future work on developing pan-cancer assays respective validities confirmed well-designed, prospective trials crucial pushing greater use tools oncology.

Язык: Английский

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Next-generation sequencing impact on cancer care: applications, challenges, and future directions

Frontiers in Genetics, Год журнала: 2024, Номер 15

Опубликована: Июль 9, 2024

Fundamentally precision oncology illustrates the path in which molecular profiling of tumors can illuminate their biological behavior, diversity, and likely outcomes by identifying distinct genetic mutations, protein levels, other biomarkers that underpin cancer progression. Next-generation sequencing became an indispensable diagnostic tool for diagnosis treatment guidance current clinical practice. Nowadays, tissue analysis benefits from further support through methods like comprehensive genomic liquid biopsies. However, medicine field presents specific hurdles, such as cost-benefit balance widespread accessibility, particularly countries with low- middle-income. A key issue is how to effectively extend next-generation all patients, thus empowering decision-making. Concerns also quality preservation samples, well evaluation health technologies. Moreover, technology advances, novel assessments are being developed, including study Fragmentomics. Therefore, our objective was delineate primary uses sequencing, discussing its’ applications, limitations, prospective paths forward Oncology.

Язык: Английский

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The evolving landscape of metastatic HER2-positive, hormone receptor-positive Breast Cancer

Cancer Treatment Reviews, Год журнала: 2024, Номер 128, С. 102761 - 102761

Опубликована: Май 16, 2024

Язык: Английский

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The expansion of liquid biopsies to vascular care: an overview of existing principles, techniques and potential applications to vascular malformation diagnostics

Frontiers in Genetics, Год журнала: 2024, Номер 15

Опубликована: Янв. 18, 2024

Vascular malformations are congenital lesions that occur due to mutations in major cellular signalling pathways which govern angiogenesis, cell proliferation, motility, and death. These have been widely studied oncology substrates for various small molecule inhibitors. Given their common molecular biology, there is now a potential repurpose these cancer drugs vascular malformation care; however, diagnosis required order tailour specific the individual patient’s mutational profile. Liquid biopsies (LBs), emerging as transformative tool field of oncology, hold significant promise this feat. This paper explores principles technologies underlying LBs evaluates revolutionize management malformations. The review begins by delineating fundamental LBs, focusing on detection analysis circulating biomarkers such cell-free DNA, tumor cells, extracellular vesicles. Subsequently, an in-depth technological advancements driving LB platforms presented. Lastly, highlights current state research applying malformations, uses aforementioned techniques conceptualize liquid biopsy framework unique clinical care.

Язык: Английский

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Current Challenges of Methylation-Based Liquid Biopsies in Cancer Diagnostics

Cancers, Год журнала: 2024, Номер 16(11), С. 2001 - 2001

Опубликована: Май 24, 2024

In current clinical practice, effective cancer testing and screening paradigms are limited to specific types of cancer, exhibiting varying efficiency, acceptance, adherence. Cell-free DNA (cfDNA) methylation profiling holds promise in providing information about the presence malignity regardless its type location while leveraging blood-based liquid biopsies as a method obtain analytical samples. However, technical difficulties, costs challenges resulting from biological variations, tumor heterogeneity, exogenous factors persist. This exploits mechanisms behind cfDNA release but faces issues like fragmentation, low concentrations, high background noise. review explores methylation's origins, means detection, for diagnostics. The critical evaluation currently available multi-cancer early detection methods (MCEDs) well tests targeting single genes, emphasizing their potential limits refine strategies explained. methodology limitations, workflows, comparisons clinically approved biopsy-based utilization companion diagnostics limitations epigenetics approach discussed, aiming help healthcare providers researchers orient themselves this increasingly complex evolving field

Язык: Английский

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Comprehensive genomic profiling by liquid biopsy captures tumor heterogeneity and identifies cancer vulnerabilities in patients with RAS/BRAF wild type metastatic colorectal cancer in the CAPRI 2-GOIM trial

Annals of Oncology, Год журнала: 2024, Номер unknown

Опубликована: Авг. 1, 2024

Язык: Английский

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Mosaic accumulation of somatic genetic variation and estimates of age in the long-lived reef-building coralAcropora palmata

bioRxiv (Cold Spring Harbor Laboratory), Год журнала: 2025, Номер unknown

Опубликована: Апрель 15, 2025

Abstract Somatic genetic variation (SOGV), accumulating during an organism’s lifetime, was traditionally viewed as detrimental rather than adaptive due to links with cancer and senescence. However, in modular organisms like corals, deleterious mutations can be purged at the cellular or polyp level, while may rise frequency polyps create genetically distinct modules. Quantifying somatic landscape corals is necessary understand role these have coral clonal animal development evolution. Here, we catalog eight Acropora palmata colonies from Curaçao. Whole genomes were sequenced (70-100x depth), documenting mutation variant allele shifts genets aged. Large numbers of SOGVs observed six- ten-year-old colonies, inferred rates used age a genet uncertain almost century old. Although not fixed branch levels, i.e. they always displayed frequencies <0.5 expected mutating homozygous sites, their followed power-law distribution, similar aging human tissues. No signs positive selection found; instead colony under purifying selection. In one colony, 28 samples along analyzed using SNP microarray. Contrary expectations, physical distances unrelated. This observation together lack fixation explained by large stem cell population, de-differentiation dormancy cells, contribution strong selection, combination previously mentioned. Our findings provide neutral framework against which test for module-level explore relationship between distance within apply clock palmata. work provides fundamental insights into reef-building coral, highlighting importance studying contribute diversity adaptability colonial animals.

Язык: Английский

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Variant Allele Frequency Analysis of Circulating Tumor DNA as a Promising Tool in Assessing the Effectiveness of Treatment in Non-Small Cell Lung Carcinoma Patients

Cancers, Год журнала: 2024, Номер 16(4), С. 782 - 782

Опубликована: Фев. 14, 2024

Despite the different possible paths of treatment, lung cancer remains one leading causes death in oncological patients. New tools guiding therapeutic process are under scientific investigation, and promising indicators effectiveness therapy patients with NSCLC is variant allele frequency (VAF) analysis. VAF a metric characterized as measurement specific proportion within genomic locus, it can be determined using methods based on NGS or PCR. It assessed not only tissue samples but also ctDNA (circulating tumor DNA) isolated from liquid biopsy. The non-invasive characteristic biopsy enables more frequent collection material increases potential analysis monitoring therapy. Several studies have been performed to evaluate possibility usage. research carried out so far demonstrates that evaluation dynamics may useful progression, remission, recurrence during after treatment. Moreover, use appears beneficial making treatment decisions. However, several issues require better understanding standardization before testing implemented clinical practice. In this review, we discuss difficulties application routine, discussing diagnostic methodological challenges We highlight applications VAF-based measurements consideration trials personalized treatments for NSCLC.

Язык: Английский

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