Idoia Martín‐Guerrero

Integrated biomarker and treatment correlates of prognosis in infant non-WNT/non-SHH medulloblastoma: a multinational retrospective cohort study

Stacey Richardson, Debbie Hicks, Melissa Gough, Ellie Butler et autres

Background Infant medulloblastoma (age <3–5 years at diagnosis) is a major challenge in paediatric oncology. Clinical studies of molecularly defined non-WNT/non-SHH infant medulloblastoma (~60% of cases) have not been done, and this group is currently considered to have uniformly high risk. Understanding …

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Therapy and biomarker dependent progression-free survival in infant sonic hedgehog medulloblastoma: a multi-national retrospective cohort study

Stacey Richardson, Debbie Hicks, Melissa Gough, Ellie Butler et autres

Background Medulloblastoma in infants (iMB; aged < 5 years) presents the challenge of achieving cure while minimising deleterious cranio-spinal irradiation (CSI)-associated late-effects. Non-randomised phase 2 studies have examined upfront CSI omission and chemotherapy intensification for favourable-risk desmoplastic/nodular (DN) tumours associated with the …

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surviBALL: exploring lncRNA expression at diagnosis for 5-year EFS risk stratification in pediatric B-ALL—a proof of concept

Unai Illarregi, Nerea Bilbao‐Aldaiturriaga, Ángela Gutiérrez-Camino, Iván Martínez de Estíbariz et autres

Abstract Background B-cell Acute Lymphoblastic Leukemia (B-ALL) remains an important cause of cancer-related death in children. Therefore, accurate identification at diagnosis of patients at high risk of relapse is crucial. In this context, long non-coding RNAs (lncRNAs) could be novel candidates with …

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GENOMIC ALTERATIONS OF B-CELL NON-HODGKIN LYMPHOMA IN PEDIATRIC PATIENTS WITH INBORN ERRORS OF IMMUNITY

Sara Mato, Leonie Frauenfeld, Julia Richter, Ariadna Colmenero et autres

USP7 alterations are associated with a poor survival in pediatric T-cell acute lymphoblastic leukemia

Unai Illarregi, Ángela Gutiérrez-Camino, Ricardo López Almaraz, Javier Arzuaga‐Méndez et autres

Less than 25% of relapsed pediatric T-ALL patients survive, highlighting the need to identify them beforehand.Here, we show that USP7 SNVs, combined with MRD and CNS status, could identify very-high risk patients, offering novel insights for risk stratification. Main textAcute Lymphoblastic Leukemia …

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Global lncRNA expression profiles in medulloblastoma reveal crucial lncRNA-oncogene interactions in Sonic hedgehog and Group 4

Iván Martínez de Estíbariz, Unai Illarregi, Daniel Sinnett, Ángela Gutiérrez-Camino et autres

Abstract Background Advances in multi-omic studies have improved medulloblastoma (MB) characterization, yet novel molecular biomarkers are needed to refine tumor biology and therapeutic strategies. Current profiling mainly targets the protein-coding genome, while the potential of noncoding regions remains unexplored. This study aims …

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125P Detection and analysis of medulloblastoma subtype-specific copy number variations from RNA-seq data for improved risk-based subtype classification

I. Martinez de Estibariz Royuela, Miguel García-Ariza, Laura Zaldumbide, Lide Alaña et autres

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MDB-75. MOLECULAR PATHOLOGY, TREATMENT AND PROGNOSIS OF INFANT SONIC HEDGEHOG MEDULLOBLASTOMA: A GLOBAL MULTI-COHORT STUDY

Stacey Richardson, Debbie Hicks, Melissa Gough, Jemma Castle et autres

Abstract BACKGROUND Clinical studies in infant medulloblastoma (iMB; <5 years) have, to date, focussed on modestly-sized or national trials cohorts and have not directly compared therapeutic approaches or placed these in the context of dedicated biomarker studies, to inform future treatment strategies. …

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CircRNAome of Childhood Acute Lymphoblastic Leukemia: Deciphering Subtype-Specific Expression Profiles and Involvement in TCF3::PBX1 ALL

Ángela Gutiérrez-Camino, Maxime Caron, Chantal Richer, Claire Fuchs et autres

Childhood B-cell acute lymphoblastic leukemia (B-ALL) is a heterogeneous disease comprising multiple molecular subgroups with subtype-specific expression profiles. Recently, a new type of ncRNA, termed circular RNA (circRNA), has emerged as a promising biomarker in cancer, but little is known about their …

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137P Event-free survival prediction using lncRNAs in pediatric B-cell acute lymphoblastic leukemia

Unai Illarregi, Ángela Gutiérrez-Camino, Nerea Bilbao‐Aldaiturriaga, Itziar Astigarraga et autres

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The Role of the Dysregulation of Long Non-Coding and Circular RNA Expression in Medulloblastoma: A Systematic Review

Iván Martínez de Estíbariz, Anastasija Jakjimovska, Unai Illarregi, Idoia Martín‐Guerrero et autres

Medulloblastoma (MB) is the most common malignant brain tumor in childhood. Although recent multi-omic studies have led to advances in MB classification, there is still room for improvement with regard to treatment response and survival. Therefore, identification of new and less invasive …

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microRNA sequencing for biomarker detection in the diagnosis, classification and prognosis of Diffuse Large B Cell Lymphoma

Ane Larrabeiti-Etxebarria, Nerea Bilbao‐Aldaiturriaga, Javier Arzuaga‐Méndez, Maialen Martín-Arruti et autres

Despite being considered a single disease, Diffuse Large B Cell Lymphoma (DLBCL) presents with variable backgrounds, which results in heterogeneous outcomes among patients, with 40% of them still having primary refractory disease or relapse. Thus, novel biomarkers are needed. In addition, multiple …

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