Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in a Child with Myelodysplastic Neoplasm with Complex Karyotype and ETV6 Variant: Challenges in Treatment
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 sh...
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PAGEPress Publications
2024-04-01
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| Series: | Mediterranean Journal of Hematology and Infectious Diseases |
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| Online Access: | https://www.mjhid.org/mjhid/article/view/5682 |
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| author | Elaiza Almeida Antônio de Kós Viviane Lamim Lovatel Rita de Cássia Barbosa Tavares Gerson Moura Ferreira Bernadete Evangelho Gomes Ana Paula Silva Bueno Elaine Sobral da Costa Teresa de Souza Fernandez |
| author_facet | Elaiza Almeida Antônio de Kós Viviane Lamim Lovatel Rita de Cássia Barbosa Tavares Gerson Moura Ferreira Bernadete Evangelho Gomes Ana Paula Silva Bueno Elaine Sobral da Costa Teresa de Souza Fernandez |
| author_sort | Elaiza Almeida Antônio de Kós |
| collection | DOAJ |
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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. At diagnosis, the patient showed a complex karyotype with chromosomal abnormalities not yet reported together in the same clone, and likely a pathogenic variant in the ETV6 gene. The patient was treated with HLA-matched sibling HSCT, but unfortunately relapsed after HSCT with clonal cytogenetic evolution. This unfavorable outcome suggests that the treatment of pediatric MDS associated with predictive factors of poor prognosis, such as complex karyotype and ETV6 variant remains a challenge.
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| format | Article |
| id | doaj-art-35a2a57270254a2da2abf82e8dbdcd82 |
| institution | DOAJ |
| issn | 2035-3006 |
| language | English |
| publishDate | 2024-04-01 |
| publisher | PAGEPress Publications |
| record_format | Article |
| series | Mediterranean Journal of Hematology and Infectious Diseases |
| spelling | doaj-art-35a2a57270254a2da2abf82e8dbdcd822025-08-20T02:44:39ZengPAGEPress PublicationsMediterranean Journal of Hematology and Infectious Diseases2035-30062024-04-0116110.4084/MJHID.2024.040Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in a Child with Myelodysplastic Neoplasm with Complex Karyotype and ETV6 Variant: Challenges in Treatment Elaiza Almeida Antônio de Kós 0https://orcid.org/0000-0002-6953-4284Viviane Lamim Lovatel 1https://orcid.org/0000-0001-8493-5855Rita de Cássia Barbosa Tavares 2https://orcid.org/0000-0002-9050-7918Gerson Moura Ferreira 3https://orcid.org/0000-0002-3467-2580Bernadete Evangelho Gomes4Ana Paula Silva Bueno5https://orcid.org/0000-0003-0167-2258Elaine Sobral da Costa 6https://orcid.org/0000-0002-5340-5816Teresa de Souza Fernandez7Cytogenetic Laboratory, Cell and Gene Therapy Program, Instituto Nacional de Câncer (INCA), Rio de Janeiro, RJ, BrazilCytogenetic Laboratory, Cell and Gene Therapy Program, Instituto Nacional de Câncer (INCA), Rio de Janeiro, RJ, BrazilOutpatient Department, Bone Marrow Transplantation Center, Instituto Nacional de Câncer (INCA), Rio de Janeiro, RJ, BrazilStem Cell Laboratory, Instituto Nacional de Câncer, Rio de Janeiro, RJ, BrazilImmunology Laboratory, Cell and Gene Therapy Program, Instituto Nacional de Câncer (INCA), Rio de Janeiro, RJ, BrazilInstituto de Puericultura e Pediatria Martagão Gesteira (IPPMG), Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, BrazilInstituto de Puericultura e Pediatria Martagão Gesteira (IPPMG), Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, BrazilBone Marrow Transplantation Center, National Cancer Institute (INCA), Rio de Janeiro, RJ, Brazil. 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. At diagnosis, the patient showed a complex karyotype with chromosomal abnormalities not yet reported together in the same clone, and likely a pathogenic variant in the ETV6 gene. The patient was treated with HLA-matched sibling HSCT, but unfortunately relapsed after HSCT with clonal cytogenetic evolution. This unfavorable outcome suggests that the treatment of pediatric MDS associated with predictive factors of poor prognosis, such as complex karyotype and ETV6 variant remains a challenge. https://www.mjhid.org/mjhid/article/view/5682childhood myelodysplastic neoplasmcomplex karyotypeETV6 varianthematopoietic stem cell transplantationrelapseclonal cytogenetic evolution |
| spellingShingle | Elaiza Almeida Antônio de Kós Viviane Lamim Lovatel Rita de Cássia Barbosa Tavares Gerson Moura Ferreira Bernadete Evangelho Gomes Ana Paula Silva Bueno Elaine Sobral da Costa Teresa de Souza Fernandez 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 childhood myelodysplastic neoplasm complex karyotype ETV6 variant hematopoietic stem cell transplantation relapse clonal cytogenetic evolution |
| title | Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in a Child with Myelodysplastic Neoplasm with Complex Karyotype and ETV6 Variant: Challenges in Treatment |
| title_full | Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in a Child with Myelodysplastic Neoplasm with Complex Karyotype and ETV6 Variant: Challenges in Treatment |
| title_fullStr | Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in a Child with Myelodysplastic Neoplasm with Complex Karyotype and ETV6 Variant: Challenges in Treatment |
| title_full_unstemmed | Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in a Child with Myelodysplastic Neoplasm with Complex Karyotype and ETV6 Variant: Challenges in Treatment |
| title_short | Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in a Child with Myelodysplastic Neoplasm with Complex Karyotype and ETV6 Variant: Challenges in Treatment |
| title_sort | outcome of allogeneic hematopoietic stem cell transplantation in a child with myelodysplastic neoplasm with complex karyotype and etv6 variant challenges in treatment |
| topic | childhood myelodysplastic neoplasm complex karyotype ETV6 variant hematopoietic stem cell transplantation relapse clonal cytogenetic evolution |
| url | https://www.mjhid.org/mjhid/article/view/5682 |
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