Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in a Child with Myelodysplastic Neoplasm with Complex Karyotype and ETV6 Variant: Challenges in Treatment

Main Article Content

Elaiza Almeida Antônio de Kós
Cytogenetic Laboratory, Cell and Gene Therapy Program, Instituto Nacional de Câncer (INCA), Rio de Janeiro, RJ, Brazil
https://orcid.org/0000-0002-6953-4284
Viviane Lamim Lovatel
Cytogenetic Laboratory, Cell and Gene Therapy Program, Instituto Nacional de Câncer (INCA), Rio de Janeiro, RJ, Brazil
https://orcid.org/0000-0001-8493-5855
Rita de Cássia Barbosa Tavares
Outpatient Department, Bone Marrow Transplantation Center, Instituto Nacional de Câncer (INCA), Rio de Janeiro, RJ, Brazil
https://orcid.org/0000-0002-9050-7918
Gerson Moura Ferreira
Stem Cell Laboratory, Instituto Nacional de Câncer, Rio de Janeiro, RJ, Brazil
https://orcid.org/0000-0002-3467-2580
Bernadete Evangelho Gomes
Immunology Laboratory, Cell and Gene Therapy Program, Instituto Nacional de Câncer (INCA), Rio de Janeiro, RJ, Brazil

Ana Paula Silva Bueno
Instituto de Puericultura e Pediatria Martagão Gesteira (IPPMG), Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, Brazil
https://orcid.org/0000-0003-0167-2258
Elaine Sobral da Costa
Instituto de Puericultura e Pediatria Martagão Gesteira (IPPMG), Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, Brazil
https://orcid.org/0000-0002-5340-5816
Teresa de Souza Fernandez
Bone Marrow Transplantation Center, National Cancer Institute (INCA), Rio de Janeiro, RJ, Brazil.

Keywords

childhood myelodysplastic neoplasm, complex karyotype, ETV6 variant, hematopoietic stem cell transplantation, relapse, clonal cytogenetic evolution

Abstract

Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is the only treatment with the potential for cure in patients with myelodysplastic neoplasm (MDS). Nevertheless, disease relapse is the main cause of treatment failure. Due to the rarity of childhood MDS (cMDS), there are few studies showing the impact of cytogenetic alterations and genetic variants on outcomes of allo-HSCT, mainly focusing on clonal chromosomal evolution (CCE) during relapse post-transplant. Here, we describe a 3-year-old boy with cMDS-IB, who evolved to MDS/AML. 

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Published
Apr 30, 2024
DOI https://doi.org/10.4084/MJHID.2024.040

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How to Cite

Almeida Antônio de Kós , E. (2024) “Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in a Child with Myelodysplastic Neoplasm with Complex Karyotype and ETV6 Variant: Challenges in Treatment ”, Mediterranean Journal of Hematology and Infectious Diseases, 16(1), p. e2024040. doi: 10.4084/MJHID.2024.040.
Issue
Vol. 16 No. 1 (2024): Review Articles, Original Article, Scientific Letter, Case Reports Letter to the Editor
Section
Letters to the Editor
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