User-centered design approach to visualize PROMs for molecular tumor boards DOI

Sara Bäcker,

Brita Sedlmayr, Miriam Goldammer

et al.

Research Square (Research Square), Journal Year: 2025, Volume and Issue: unknown

Published: May 23, 2025

Abstract Integrating Patient-Reported Outcome Measures (PROMs) into Molecular Tumor Boards (MTBs) remains challenging due to the complexity of data visualization and integration clinical workflows. This work, as part German PM4Onco project, aims identify requirements for PROMs develop a prototype in cBioPortal, facilitating broader application within oncology care. We employed qualitative research approach, including developing personas MTB stakeholders, conducting literature-based analysis, organizing co-design workshop create low-fidelity prototypes, evaluating highest-rated variant through an online survey distributed physicians across Germany. Seven specialist groups were identified, with key needs intuitive visualization, clear axis labeling, longitudinal symptom tracking. The resulting mid-fidelity mockup incorporated cBioPortal's timeline view detailed tab, featuring trend indicators, line graphs, customizable health displays. Usability evaluation by members yielded SUS score 67, indicating initial indicator acceptable usability, suggestions improvements like threshold scores deeper integration. While offer critical patient insights, they remain underused MTBs. Our early-stage demonstrates potential addressing this gap, future work focusing on implementation, testing, international validation.

Language: Английский

Artificial intelligence-based biomarkers for treatment decisions in oncology DOI Creative Commons
Marta Ligero, Omar S.M. El Nahhas, Mihaela Aldea

et al.

Trends in cancer, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 1, 2025

The development of new therapeutic strategies such as immune checkpoint inhibitors (ICIs) and targeted therapies has increased the complexity treatment landscape for solid tumors. At current rate annual FDA approvals, potential options could increase by tenfold over next 5 years. cost personalized medicine technologies limits its accessibility, thus increasing socioeconomic disparities in treated population. In this review we describe artificial intelligence (AI)-based solutions - including deep learning (DL) methods routine medical imaging large language models (LLMs) electronic health records (EHRs) to support cancer decisions with cost-effective biomarkers. We address limitations these propose steps towards their adoption clinical practice.

Language: Английский

Citations

2
Current trends in sensitizing immune checkpoint inhibitors for cancer treatment DOI Creative Commons
Jing Wei, Wenke Li, Pengfei Zhang

et al.

Molecular Cancer, Journal Year: 2024, Volume and Issue: 23(1)

Published: Dec. 26, 2024

Immune checkpoint inhibitors (ICIs) have dramatically transformed the treatment landscape for various malignancies, achieving notable clinical outcomes across a wide range of indications. Despite these advances, resistance to immune blockade (ICB) remains critical challenge, characterized by variable response rates and non-durable benefits. However, growing research into complex intrinsic extrinsic characteristics tumors has advanced our understanding mechanisms behind ICI resistance, potentially improving outcomes. Additionally, robust predictive biomarkers are crucial optimizing patient selection maximizing efficacy ICBs. Recent studies emphasized that multiple rational combination strategies can overcome enhance susceptibility ICIs. These findings not only deepen tumor biology but also reveal unique action sensitizing agents, extending benefits in cancer immunotherapy. In this review, we will explore underlying ICIs, discuss significance microenvironment (TIME) biomarkers, analyze current outline alternative effectiveness including personalized

Language: Английский

Citations

12
Modular CRISPR/Cas12a synergistic activation platform for detection and logic operations DOI Creative Commons
Minghao Hu, Xianzhi Cheng, Tongbo Wu

et al.

Nucleic Acids Research, Journal Year: 2024, Volume and Issue: 52(12), P. 7384 - 7396

Published: June 3, 2024

Abstract The revolutionary technology of CRISPR/Cas has reshaped the landscape molecular biology and engineering. This tool is interest to researchers in multiple fields, including diagnostics, biochemistry circuits, information storage. As spreads more niche areas, new application scenarios requirements emerge. Developing programmability compatibility becomes a critical issue phase. Here, we report redundancy-based modular CRISPR/Cas12a synergistic activation platform (MCSAP). position, length, concentration redundancy split DNA activators can finely regulate activity Cas12a. With redundant structure as an interface, MCSAP serves plug-in seamlessly integrate with upstream network. successfully performs three different tasks: nucleic acid detection, enzyme logic operation. work effector for networks because its programmability. Our provides powerful yet easy-to-use tools strategies fields nanotechnology, engineering, biology.

Language: Английский

Citations

11
Strategies to Address the Clinical Practice Gaps Affecting the Implementation of Personalized Medicine in Cancer Care DOI
Apostolia M. Tsimberidou,

Anthony Sireci,

Robert Dumanois

et al.

JCO Oncology Practice, Journal Year: 2024, Volume and Issue: 20(6), P. 761 - 766

Published: March 5, 2024

Language: Английский

Citations

10
Retrieval Augmented Therapy Suggestion for Molecular Tumor Boards (Preprint) DOI Creative Commons

Eliza Berman,

Holly Sundberg Malek,

Michael Bitzer

et al.

Journal of Medical Internet Research, Journal Year: 2025, Volume and Issue: 27, P. e64364 - e64364

Published: Jan. 2, 2025

Molecular tumor boards (MTBs) require intensive manual investigation to generate optimal treatment recommendations for patients. Large language models (LLMs) can catalyze MTB recommendations, decrease human error, improve accessibility care, and enhance the efficiency of precision oncology. In this study, we aimed investigate efficacy LLM-generated treatments We specifically LLMs' ability evidence-based using PubMed references. built a retrieval augmented generation pipeline data. prompted resulting LLM with references test set patients from an conference at large comprehensive cancer center tertiary care institution. Members manually assessed relevancy correctness generated responses. A total 75% referenced articles were properly cited PubMed, while 17% hallucinations, remaining not PubMed. Clinician-generated queries achieved higher accuracy through clinician evaluation than automated queries, clinicians labeling 25% responses as equal their 37.5% alternative plausible treatments. This study demonstrates how generation-enhanced LLMs be powerful tool in accelerating conferences, are sometimes capable achieving clinician-equal recommendations. However, further is required achieve stable results zero hallucinations. signify scalable solution time-intensive process investigations. performance that they must used heavy supervision, cannot yet fully automate pipeline.

Language: Английский

Citations

1
Knowledge Connector: Decision support system for multiomics-based precision oncology DOI Creative Commons
Daniel Hübschmann, Simon Kreutzfeldt, Benjamin Roth

et al.

medRxiv (Cold Spring Harbor Laboratory), Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 25, 2025

Abstract Precision cancer medicine aims to improve patient outcomes by providing individually tailored recommendations for clinical management based on the evaluation of biological disease profiles in multidisciplinary molecular tumor boards (MTBs). The quality MTB decisions depends comprehensive, reliable, and reproducible interpretation increasingly complex data. We developed implemented, as part a multicenter precision oncology program, Knowledge Connector (KC), decision support system that integrates individual patients’ data with world knowledge generate document recommendations. KC supports curation, database integration, discussion multiomics provides an interface creating cross-institutional base. Furthermore, it extracts relevant biomarker-drug associations increases efficacy clinically manner reducing reliance external sources optimizing inter-curator concordance. Our results demonstrate is versatile tool medical decision-making MTBs, thus enabling scalability medicine.

Language: Английский

Citations

1
Head and neck tumor organoid biobank for modelling individual responses to radiation therapy according to the TP53/HPV status DOI Creative Commons
Christian Issing, Constantin Menche,

M. Richter

et al.

Journal of Experimental & Clinical Cancer Research, Journal Year: 2025, Volume and Issue: 44(1)

Published: March 5, 2025

Head and neck cancers (HNC) represent an extremely heterogeneous group of diseases with a poorly predictable therapy outcome. Patient-derived tumor organoids (PDTO) offer enormous potential for individualized testing better mechanistic understanding the main HNC drivers. Here, we have established comprehensive molecularly functionally characterized head organoid biobank (HNOB) recapitulating clinically relevant subtypes TP53 mutant human papillomavirus type 16 (HPV 16) infection-driven HNC. Organoids were exposed to radiotherapy, responses correlated clinical data. Genetically engineered normal used direct functional consequences TP53-loss HPV infection. The HNOB consisting 18 models, including 15 was generated. We identified subtype-associated transcriptomic signatures pathological features, sensitivity stabilization by MDM2 inhibitor Nutlin-3. Furthermore, describe in vitro radio response assay revealing phenotypic heterogeneity linked individual patient's treatment outcome, relapse probability. Using genetically organoids, possibility co-existence both cancer drivers confirmed. loss, as well HPV, increased growth organoids. loss-of-function alone insufficient promote radiation resistance, whereas oncogenes E6/E7 mediated radiosensitivity via induction cell cycle arrest. Our results highlight translational value models not only patient stratification but also validation responsiveness specific

Language: Английский

Citations

1
ESMO Precision Oncology Working Group recommendations on the structure and quality indicators for molecular tumour boards in clinical practice DOI Creative Commons
C. Benedikt Westphalen,

L. Boscolo Bielo,

Philippe Aftimos

et al.

Annals of Oncology, Journal Year: 2025, Volume and Issue: unknown

Published: April 1, 2025

With an increased uptake of genomic profiling in clinical practice and the evolving complexity diagnostic modalities, vast amounts complex data need to be properly interpreted integrated into individualised care plan. To address these challenges, molecular tumour boards (MTBs) have been widely established. As today, no international recommendations regulating composition workflows MTBs defined. ESMO's Precision Oncology Working Group (POWG) established expert panel precision oncology defined core areas interest. After several consultations through consensus process, group reached a level for each recommendation. The five components MTB process that are critical its function use: (i) primary task consists providing genomic-informed recommendations, particularly cases exhibiting alterations; (ii) achieve this, should encompass interdisciplinary expertise, with key roles oncologists pathologists training geneticists; (iii) MTBs' documented structured report includes treatment strategies, management plans potential tumour-detected germline alterations guidance additional testing; (iv) follow-up processes implemented monitoring effectiveness (v) finally, proposed quality indicators operating MTBs, including turnaround times discussion proportion which actionable trial enrolments were successfully implemented. These POWG can serve as help define standards allow harmonisation further expedite integration practice.

Language: Английский

Citations

1
Phenotypic complexities of rare heterozygous neurexin-1 deletions DOI
Michael B. Fernando, Yu Fan, Yanchun Zhang

et al.

Nature, Journal Year: 2025, Volume and Issue: unknown

Published: April 9, 2025

Language: Английский

Citations

1
CoHIT: a one-pot ultrasensitive ERA-CRISPR system for detecting multiple same-site indels DOI Creative Commons

Yin Liu,

Xinyi Liu,

Dongyi Wei

et al.

Nature Communications, Journal Year: 2024, Volume and Issue: 15(1)

Published: June 12, 2024

Abstract Genetic testing is crucial for precision cancer medicine. However, detecting multiple same-site insertions or deletions (indels) challenging. Here, we introduce CoHIT (Cas12a-based One-for-all High-speed Isothermal Test), a one-pot CRISPR-based assay indel detection. Leveraging an engineered AsCas12a protein variant with high mismatch tolerance and broad PAM scope, can use single crRNA to detect NPM1 gene c.863_864 4-bp in acute myeloid leukemia (AML). After optimizing parameters, achieves detection limit of 0.01% rapid results within 30 minutes, without wild-type cross-reactivity. It successfully identifies mutations out 108 AML patients demonstrates potential monitoring minimal residual disease (MRD) through continuous sample analysis from three patients. The method also competent indels KIT , BRAF EGFR genes. Integration lateral flow test strips microfluidic chips highlights CoHIT’s adaptability multiplexing capability, promising significant advancements clinical diagnostics.

Language: Английский

Citations

8