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

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Elaiza Almeida Antônio de Kós https://orcid.org/0000-0002-6953-4284
Viviane Lamim Lovatel https://orcid.org/0000-0001-8493-5855
Rita de Cássia Barbosa Tavares https://orcid.org/0000-0002-9050-7918
Gerson Moura Ferreira https://orcid.org/0000-0002-3467-2580
Bernadete Evangelho Gomes
Ana Paula Silva Bueno https://orcid.org/0000-0003-0167-2258
Elaine Sobral da Costa https://orcid.org/0000-0002-5340-5816
Teresa de Souza Fernandez


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


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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