A Novel Constitutional t(3;8)(p26;q21) and ANKRD26 and SRP72 Variants in a Child with Myelodysplastic Neoplasm: Clinical Implications.

Autor: Lovatel VL; Cytogenetic Laboratory, Cell and Gene Therapy Program, Instituto Nacional do Câncer (INCA), Rio de Janeiro 20230-130, Brazil., Bueno AP; Instituto de Puericultura e Pediatria Martagão Gesteira, Universidade Federal do Rio de Janeiro, Rio de Janeiro 21941-909, Brazil.; Pathology Department, Federal University of Rio de Janeiro, Rio de Janeiro 21941-599, Brazil., Kós EAA; Cytogenetic Laboratory, Cell and Gene Therapy Program, Instituto Nacional do Câncer (INCA), Rio de Janeiro 20230-130, Brazil., Meyer LGC; Outpatient Department, Bone Marrow Transplantation Center, Instituto Nacional de Câncer, Rio de Janeiro 20230-130, Brazil., Ferreira GM; Stem Cell Laboratory, Bone Marrow Transplantation Center, Instituto Nacional de Câncer, Rio de Janeiro 20230-130, Brazil., Kalonji MF; Instituto de Puericultura e Pediatria Martagão Gesteira, Universidade Federal do Rio de Janeiro, Rio de Janeiro 21941-909, Brazil., Mello FV; Instituto de Puericultura e Pediatria Martagão Gesteira, Universidade Federal do Rio de Janeiro, Rio de Janeiro 21941-909, Brazil., Milito CB; Pathology Department, Federal University of Rio de Janeiro, Rio de Janeiro 21941-599, Brazil., Costa ESD; Instituto de Puericultura e Pediatria Martagão Gesteira, Universidade Federal do Rio de Janeiro, Rio de Janeiro 21941-909, Brazil., Abdelhay E; Stem Cell Laboratory, Bone Marrow Transplantation Center, Instituto Nacional de Câncer, Rio de Janeiro 20230-130, Brazil., Redondo MDT; Instituto de Investigación Biomédica de Salamanca (IBSAL), 37007 Salamanca, Spain., Pombo-de-Oliveira MS; Research Centre, Instituto Nacional de Câncer (INCA), Rio de Janeiro 20231-050, Brazil., Fernandez TS; Cytogenetic Laboratory, Cell and Gene Therapy Program, Instituto Nacional do Câncer (INCA), Rio de Janeiro 20230-130, Brazil.
Jazyk: angličtina
Zdroj: Journal of clinical medicine [J Clin Med] 2023 Apr 28; Vol. 12 (9). Date of Electronic Publication: 2023 Apr 28.
DOI: 10.3390/jcm12093171
Abstrakt: Background: Childhood myelodysplastic neoplasm (cMDS) often raises concerns about an underlying germline predisposition, and its verification is necessary to guide therapeutic choice and allow family counseling. Here, we report a novel constitutional t(3;8)(p26;q21) in a child with MDS, inherited from the father, the ANKRD26 and SRP72 variants from the maternal origin, and the acquisition of molecular alterations during MDS evolution.
Case Presentation: A 4-year-old girl showed repeated infections and severe neutropenia. Bone marrow presented hypocellularity with dysplastic features. The patient had a t(3;8)(p26;q21)c identified by G-banding and FISH analysis. The family nucleus investigation identified the paternal origin of the chromosomal translocation. The NGS study identified ANKRD26 and SRP72 variants of maternal origin. CGH-array analysis detected alterations in PRSS3P2 and KANSL genes. Immunohistochemistry showed abnormal p53 expression during the MDS evolution.
Conclusion: This study shows for the first time, cytogenetic and genomic abnormalities inherited from the father and mother, respectively, and their clinical implications. It also shows the importance of investigating patients with constitutional cytogenetic alterations and/or germline variants to provide information to their family nucleus for genetic counseling and understanding of the pathogenesis of childhood MDS.
Databáze: MEDLINE
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