Jesús María Hernández‐Rivas

Machine learning provides individualized prediction of outcomes after first complete remission without allo‐HSCT consolidation in adult acute myeloid leukemia—A HARMONY study

Alberto Hernández‐Sánchez, Javier Martínez Elicegui, Eric Sträng, Axel Benner et autres

Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is a curative treatment option for a significant proportion of patients with acute myeloid leukemia (AML), and it is generally recommended when the relapse risk without allo-HSCT outweighs the estimated non-relapse mortality significantly. While current recommendations …

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Comprehensive genetic characterization of adult BCR::ABL1-negative B-ALL by Optical Genome Mapping and Targeted NGS

Josgrey del Valle Navas Acosta, Alberto Hernández‐Sánchez, Ángela Villaverde Ramiro, Sandra Santos‐Mínguez et autres

Adult B-cell precursor acute lymphoblastic leukemia (B-ALL) is genetically heterogeneous, comprising numerous subtypes. Standard methods leave many patients unclassified, and routine implementation of whole-transcriptome sequencing (WTS) or whole-genome sequencing (WGS) is limited. We evaluated a combined workflow of Optical Genome Mapping (OGM) …

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A novel homozygous splice-site variant in VPS33B identified as a cause of bleeding: reply to the letter to the editor

Lorena Díaz‐Ajenjo, Ana Marín‐Quilez, Ana Lama-Villanueva, Pablo García-Jaén et autres

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Mutational profile and cardiovascular risk factors impact prognosis in triple-negative essential thrombocythemia

Gonzalo Carreño‐Tarragona, Rodrigo Gil-Manso, Juan Carlos Hernández‐Boluda, José Carlos Martínez Ávila et autres

Triple-negative essential thrombocythemia (TN-ET) represents a diagnostic and therapeutic challenge. The aim of the present study was to identify prognostic factors useful for tailoring treatment. 241 TN-ET patients with myeloid panel sequencing and confirmatory bone marrow biopsy were selected. Pathogenic/likely pathogenic variants …

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Corrigendum to ‘A Novel Homozygous Splice-Site Variant in VPS33B Identified as a Cause of Bleeding’

Lorena Díaz‐Ajenjo, Ana Marín‐Quilez, Ana Lama-Villanueva, Pablo García-Jaén et autres

The authors regret an inaccuracy in the abstract of the published paper. In the abstract, the phrase “Immunoblotting confirmed null VPS33B expression and reduced von Willebrand factor levels” should be replaced with: “Immunoblotting confirmed the absence of detectable full-length VPS33B expression and …

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ZMYM3 mutations modulate histone acetylation and cooperate with NOTCH1 mutations in chronic lymphocytic leukemia

Alberto Rodríguez‐Sánchez, Claudia Pérez‐Carretero, Luis Antonio Corchete Sanchez, Cristina Miguel‐García et autres

ABSTRACT: ZMYM3 mutations have been recurrently identified in patients with chronic lymphocytic leukemia (CLL) at diagnosis. However, their clinical relevance and functional implications remain poorly defined. In this study, we comprehensively characterize the clinical and translational impact of ZMYM3 mutations in CLL. …

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Mutational dynamics in patients with del(5q) MDS treated with lenalidomide prior to transfusion dependency—Molecular results from the Sintrarev clinical trial

Sofía Toribio Castelló, Félix López Cadenas, Claude Preudhomme, Teresa González et autres

Abstract Lenalidomide (Len) is the standard of care for red blood cell transfusion‐dependent (TD) patients with myelodysplastic syndromes (MDS) and del(5q). A Phase III clinical trial (SintraRev) demonstrated better efficacy of early treatment with Len in anemic del(5q) MDS patients prior to …

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REL overexpression and sustained NF-κB signaling associated with 2p gain induce resistance to BTK inhibitors in Chronic Lymphocytic Leukemia

Léa Dehgane, Daphné Krzisch, Wail Zeitouni, Casilda Hitier et autres

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Mepolizumab for hypereosinophilic syndrome: effectiveness and safety from real-world evidence

Elvira Mora, María Laura Fox, Angelina Lemes, Beatriz Velasco et autres

Hypereosinophilic syndrome (HES) is a rare condition characterized by elevated eosinophil levels and related symptoms of eosinophil-mediated organ damage. We reviewed the effectiveness and safety of mepolizumab for the treatment of HES. A scoping review was conducted following the PRISMA Scoping Reviews …

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Acquired regions of homozygosity in adult B-cell acute lymphoblastic leukemia: Insights from a machine learning–powered analysis of genomic data from a multicenter cohort

Gianfranco Lapietra, Juan Manuel Rosa-Rosa, Mireia Morgades, Neus Ruiz‐Xivillé et autres

Abstract INTRODUCTION Acquired regions of homozygosity (aROHs), due to mitotic recombination between homologous chromosomes, may contribute to the expansion of a neoplastic clone if they involve mutated tumor suppressor genes (TSGs) or oncogenes (OGs), with subsequent loss of the wild-type allele and …

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Excellent prognosis for adult patients with Philadelphia chromosome-negative ALL with standard genetic risk and EARLY clearance of MRD. sub-analysis of pethema LAL19 trial

Anna Torrent, Mireia Morgades, Susana Barrera, Jordi Ribera et autres

Abstract Introduction. Adults with Ph-negative acute lymphoblastic leukemia (Ph- ALL) may not require allogeneic hematopoietic stem cell transplantation (alloHSCT) if they achieve negative measurable residual disease (MRD) after induction and consolidation therapy. However, it is unclear whether baseline genetic risk can more …

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AI-based classification and outcome prediction in BCR::ABL1-like B-cell precursor acute lymphoblastic leukemia patients using targeted RNA-seq

Juan Manuel Rosa-Rosa, Jordi Ribera, Mireia Morgades, Isabel Granada et autres

Abstract Background Recent advances in next-generation sequencing (NGS) and transcriptomic profiling have refined the molecular classification of B-cell precursor acute lymphoblastic leukemia (BCP-ALL), leading to the identification of novel subtypes with distinct biological features and clinical implications. Among these, the BCR::ABL1-like subtype …

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