„Liquid biopsy“ bei Retinoblastom DOI

Norbert Bornfeld,

Eva Biewald

Deleted Journal, Journal Year: 2024, Volume and Issue: 121(12), P. 969 - 972

Published: Nov. 13, 2024

Die "liquid biopsy" spielt eine zunehmend wichtige Rolle bei der Diagnose und Behandlung des Retinoblastoms. Möglichkeit sicheren unkomplizierten Entnahme Untersuchung von Kammerwasser aus Vorderkammer trägt wesentlich zur Differenzialdiagnose zum besseren Verständnis Erkrankung bei, hilft Prognose sowohl im Hinblick auf augenerhaltende Therapie als auch Abschätzung Risikos einer Metastasierung humangenetischen Unsicherheiten einseitiger Erkrankung. Es wird erwartet, dass die Weiterentwicklung Liquid-Biopsy-Methoden Grundlage für zukünftige personalisierte Kindern mit Retinoblastom bilden wird.

Editorial: The immunosuppressive microenvironment in pediatric cancers: applications and considerations in immunotherapy DOI Creative Commons
Jiaxiong Tan, Fei Gao, Ling Xu

et al.

Frontiers in Oncology, Journal Year: 2025, Volume and Issue: 15

Published: March 18, 2025

Immunotherapy has truly transformed the landscape of cancer treatment, bringing about remarkable improvements in survival rates across a wide spectrum adult cancers. However, so far pediatric cohort have been disappointing, largely due to differences tumor biology, including high heterogeneity immune microenvironment and generally low mutation burden. These microenvironments, populated by immunosuppressive cells such as regulatory T (Tregs), myeloid-derived suppressor (MDSCs), tumor-associated macrophages (TAMs), dampen response against tumors series complex molecular pathways drive progression drug resistance [1][2][3].Understanding targeting these mechanisms is crucial for developing effective immunotherapeutic strategies cancers.In their paper titled "Mechanisms Molecular Characterization Relapsed/Refractory Neuroblastomas", Zixuan Wei colleagues provide thorough insightful review driving relapsed refractory neuroblastomas -a with particularly grim prognosis. The authors highlight key alterations, MYCN amplification, ALK mutations, TERT promoter p53 pathway inactivation, chromosomal instability, which contribute therapeutic resistance. changes not only but also create an environment hostile cells, thereby limiting effectiveness immunotherapies. emphasizes potential precision medicine approaches improve treatment outcomes, suggesting that combining immunotherapy targeted therapies could enhance efficacy. Notably, amplification occurs one-third high-risk [4]. transcription factor Intrinsically Disordered Proteins (IDPs), makes it difficult target directly [4,5]. CRGs associated patient demonstrating significant cell infiltration sensitivity between low-risk groups. In addition, cuproptosis-related genes, calponin 3 (CNN3) leucine-rich repeat-containing G-protein-coupled receptor 4 (LGR4, called GPR48) were identified modulators cAML progression, they shown be ,making them targets. This research highlights importance understanding death providing new insights into personalized cAML. Additionally, study underscores considering age-specific landscapes when immunotherapies "TRIM8 predictor prognosis childhood acute lymphoblastic leukemia based on signature neutrophil extracellular traps", Waihin Tin et al. explored prognostic value traps (NETs) (cALL). identifies TRIM8 gene NETs demonstrates its role proliferation findings suggest knockdown improves outcomes ALL models. provides relationship NET-related genes communication, interactions system, context cancers, where poses challenges treatment. topic covers advances immunology, genomics, bioinformatics common neuroblastoma, cAML, cALL. Among seven articles submitted, four accepted publication, comprising two reviews original articles. contributions collectively offer novel tumors, aiming lay foundation advancing application efficacy this vulnerable population. It our hope content special will inspire readers draw increased attention from researchers unique opportunities presented ultimately forward more valuable progress field.

Language: Английский

Citations

0

Tumor heterogeneity in retinoblastoma: a literature review DOI Creative Commons
Rani Pallavi,

Bihari Lal Soni,

Gaurab Kumar Jha

et al.

Cancer and Metastasis Reviews, Journal Year: 2025, Volume and Issue: 44(2)

Published: April 22, 2025

Tumor heterogeneity, characterized by the presence of diverse cell populations within a tumor, is key feature complex nature cancer. This diversity arises from emergence cells with varying genomic, epigenetic, transcriptomic, and phenotypic profiles over course disease. Host factors tumor microenvironment play crucial roles in driving both inter-patient intra-patient heterogeneity. These can exhibit different behaviors, such as rates proliferation, responses to treatment, potential for metastasis. Both heterogeneity pose significant challenges cancer therapeutics management. In retinoblastoma, while at clinical presentation level has been recognized some time, recent attention shifted towards understanding underlying cellular review primarily focuses on retinoblastoma its implications therapeutic strategies disease management, emphasizing need further research exploration this challenging area.

Language: Английский

Citations

0

Mucinous cystic neoplasms and simple mucinous cysts are two distinct precursors of pancreatic cancer: clinicopathological, genomic, and transcriptomic characterization DOI Creative Commons
Antonio Pea, Michele Bevere, Αναστάσιος Γκουντάκος

et al.

The Journal of Pathology, Journal Year: 2025, Volume and Issue: unknown

Published: May 15, 2025

Abstract Mucinous cystic neoplasms (MCNs) of the pancreas are macroscopic precursors pancreatic cancer. A similar lesion but lacking ovarian‐type subepithelial stroma has been recently defined as a simple mucinous cyst (SMC); however, its nature remains unclear. This study aims to define clinicopathological and molecular profiles cohort MCNs SMCs their associated invasive carcinoma. Overall, 23 cases were identified, comprising 19 4 with co‐occurring multiregional (two samples from each one adenocarcinoma) DNA RNA sequencing approach was used. The key findings can be summarized follows: (1) Molecular association: In 22/23 (95.7%), concomitant carcinoma shared specific genomic alterations, establishing for first time that SMC is true precursor (2) Clinical behavior: carcinomas arising appeared more aggressive than those MCN. (3) Mutational profile: both types showed significant similarities conventional ductal adenocarcinoma (PDAC), KRAS TP53 most commonly altered genes. (4) Intracystic heterogeneity: while alterations present in analyzed areas, RNF43 highest heterogeneity. (5) CDKN2A : predominantly restricted component, suggesting role driving invasion subset cases. CNKN2A may also serve potential biomarker identifying high‐risk cysts. (6) RNAseq: switch classical basal transcriptome subtype during progression cancers. These establish new cancer provide critical insights into tumorigenesis MCNs, immediate implications tumor taxonomy clinical management. © 2025 Author(s). Journal Pathology published by John Wiley & Sons Ltd on behalf Pathological Society Great Britain Ireland.

Language: Английский

Citations

0

„Liquid biopsy“ bei Retinoblastom DOI

Norbert Bornfeld,

Eva Biewald

Deleted Journal, Journal Year: 2024, Volume and Issue: 121(12), P. 969 - 972

Published: Nov. 13, 2024

Die "liquid biopsy" spielt eine zunehmend wichtige Rolle bei der Diagnose und Behandlung des Retinoblastoms. Möglichkeit sicheren unkomplizierten Entnahme Untersuchung von Kammerwasser aus Vorderkammer trägt wesentlich zur Differenzialdiagnose zum besseren Verständnis Erkrankung bei, hilft Prognose sowohl im Hinblick auf augenerhaltende Therapie als auch Abschätzung Risikos einer Metastasierung humangenetischen Unsicherheiten einseitiger Erkrankung. Es wird erwartet, dass die Weiterentwicklung Liquid-Biopsy-Methoden Grundlage für zukünftige personalisierte Kindern mit Retinoblastom bilden wird.

Citations

1