Margarita Llavador

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

Diagnóstico clínico-patológico de la neoplasia de células dendríticas plasmocitoides blásticas: reporte de 3 casos

Iván Rienda, Vicent Martínez‐Cózar, Ignacio Torres‐Navarro, Margarita Llavador

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Decoding the molecular heterogeneity of pediatric monomorphic post–solid organ transplant lymphoproliferative disorders

Julia Salmerón‐Villalobos, Natalia Castrejón de Anta, Pilar Guerra‐García, Joan E. Ramis-Zaldivar et autres

Posttransplant lymphoproliferative disorders (PTLDs) represent a broad spectrum of lymphoid proliferations, frequently associated with Epstein-Barr virus (EBV) infection. The molecular profile of pediatric monomorphic PTLDs (mPTLDs) has not been elucidated, and it is unknown whether they display similar genetic features as their …

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Diverse mutations and structural variations contribute to Notch signaling deregulation in paediatric T‐cell lymphoblastic lymphoma

Julia Salmerón‐Villalobos, Joan E. Ramis-Zaldivar, Olga Balagué, Jaime Verdú‐Amorós et autres

BACKGROUND: T-cell lymphoblastic lymphoma (T-LBL) is an aggressive neoplasm closely related to T-cell acute lymphoblastic leukaemia (T-ALL). Despite their similarities, and contrary to T-ALL, studies on paediatric T-LBL are scarce and, therefore, its molecular landscape has not yet been fully elucidated. Thus, …

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Abstract 2502: Unravelling the heterogenous molecular landscape of pediatric post-transplant lymphoproliferative disorders

Julia Salmerón, Natalia Castrejón de Anta, Pilar Guerra‐García, Joan E. Ramis-Zaldivar et autres

Abstract The genetic landscape of post-transplant lymphoproliferative disorders (PTLD) in pediatric population has not been fully elucidated. This absence of information raises the question whether therapeutic strategies should be the same as for their counterparts in immunocompetent (IC) patients. The aim of …

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Diverse mutations and structural variations contribute to Notch signaling deregulation in paediatric T-cell lymphoblastic lymphoma

Julia Salmerón‐Villalobos, Juan Enric Ramis‐Zaldivar, Olga Balagué, Jaime Verdú‐Amorós et autres

Background T-cell lymphoblastic lymphoma (T-LBL) is an aggressive neoplasm closely related to T-cell acute lymphoblastic leukaemia (T-ALL). Despite their similarities, and contrary to T-ALL, studies on pediatric T-LBL are scarce and, therefore, its molecular landscape has not been fully elucidated yet. Procedure …

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Germline variant in Ctcf links mental retardation to Wilms tumor predisposition

Pablo Gargallo, Silvestre Oltra, M Tasso, Julia Balaguer et autres

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Retinoblastoma and mosaic 13q deletion: a case report

Pablo Gargallo, Silvestre Oltra, Julia Balaguer, Honorio Barranco et autres

BACKGROUND: Patients with 13q-syndrome are at risk of retinoblastoma when the RB1 gene, located in the chromosomal band 13q14.2, is deleted. This syndrome is frequently associated with congenital malformations and developmental delay, although these signs could be mild. Mosaic 13q-deletion patients have …

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Next-Generation Sequencing Identifies Potential Actionable Targets in Paediatric Sarcomas

Antonio Juan Ribelles, Pablo Gargallo, Pablo Berlanga, Vanessa Segura et autres

Background: Bone and soft-tissue sarcomas represent 13% of all paediatric malignancies. International contributions to introduce next-generation sequencing (NGS) approaches into clinical application are currently developing. We present the results from the Precision Medicine program for children with sarcomas at a reference centre. …

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Next-Generation Sequencing Identifies Potential Actionable Targets In Pediatric Sarcomas

Antonio Juan Ribelles, Pablo Gargallo, Pablo Berlanga, Vanessa Segura et autres

Abstract BACKGROUND Pediatric bone and soft-tissue sarcomas represent 13% of all pediatric malignancies. International contributions to introduce next-generation sequencing (NGS) approaches into clinical application are currently developing. We present the results from the Precision Medicine program for children with sarcomas at a …

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Testicular tumours in children: an approach to diagnosis and management with pathologic correlation

Diana Veiga-Canuto, Margarita Llavador, Agustin Serrano

Testicular tumours are rare in children. Painless scrotal mass is the most frequent clinical presentation. Tumoural markers (alpha-fetoprotein, beta-human gonadotropin chorionic) and hormone levels (testosterone) contribute to the diagnosis and management of a testicular mass in boys. Ultrasonography is the best imaging …

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Relevance of dynamic studies with magnetic resonance enterography in Crohn's disease

Salvador Pous, Matteo Frasson, Raquel Jiménez, José Pamies et autres

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