ASSOCIATION BETWEEN LEUKEMIC EVOLUTION AND UNCOMMON CHROMOSOMAL ALTERATIONS IN PEDIATRIC MYELODYSPLASTIC SYNDROME
Background and objective: Pediatric myelodysplastic syndrome (pMDS) is a group of rare clonal neoplasms with a difficult diagnosis and risk of progression to acute myeloid leukemia (AML). The early stratification in risk groups is essential to choosing the treatment and indication for allogeneic he...
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| Format: | Article |
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PAGEPress Publications
2024-01-01
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| Series: | Mediterranean Journal of Hematology and Infectious Diseases |
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| Online Access: | https://mjhid.org/mjhid/article/view/5476 |
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| author | Viviane Lamim Lovatel Beatriz Ferreira da Silva Eliane Ferreira Rodrigues Maria Luiza Rocha da Rosa Borges Rita de Cássia Barbosa Tavares Ana Paula Silva Bueno Elaine Sobral da Costa Terezinha de Jesus Marques Teresa de Souza Fernandez |
| author_facet | Viviane Lamim Lovatel Beatriz Ferreira da Silva Eliane Ferreira Rodrigues Maria Luiza Rocha da Rosa Borges Rita de Cássia Barbosa Tavares Ana Paula Silva Bueno Elaine Sobral da Costa Terezinha de Jesus Marques Teresa de Souza Fernandez |
| author_sort | Viviane Lamim Lovatel |
| collection | DOAJ |
| description |
Background and objective: Pediatric myelodysplastic syndrome (pMDS) is a group of rare clonal neoplasms with a difficult diagnosis and risk of progression to acute myeloid leukemia (AML). The early stratification in risk groups is essential to choosing the treatment and indication for allogeneic hematopoietic stem cell transplantation (HSCT). According to the Revised International Prognostic Scoring System, cytogenetic analysis has demonstrated an essential role in diagnosis and prognosis. In pMDS, abnormal karyotypes are present in 30-50% of the cases. Monosomy 7 is the most common chromosomal alteration associated with poor prognosis. However, the rarity of specific cytogenetic alterations makes its prognosis uncertain. Thus, this study aimed to describe uncommon cytogenetic alterations in a cohort of 200 pMDS patients and their association with evolution to AML. Methods: The cytogenetic analysis was performed in 200 pMDS patients by G-banding and fluorescence in situ hybridization between 2000 to 2022. Results: Rare chromosome alterations were observed in 7.5% (15/200) of the cases. These chromosome alterations were divided into four cytogenetic groups: hyperdiploidy, biclonal chromosomal alterations, translocations, and uncommon deletions, which represented 33.3%, 33.3%, 20%, and 13.3%, respectively. Most of these patients (10/15) were classified with advanced MDS (MDS-EB and MDS/AML) and the initial subtype was present in five patients (RCC). The leukemic evolution was observed in 66.66% (10/15) of the patients. Most patients had poor clinical outcomes and they were indicated for HSCT. Conclusion: The study of uncommon cytogenetic alterations in pMDS is important to improve the prognosis and guide early indication of HSCT.
Keywords: Pediatric MDS; Leukemic evolution; rare chromosomal altwerations; HSCT, Children
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| format | Article |
| id | doaj-art-969b81b0b437419b93f8c0e953c76191 |
| institution | Kabale University |
| issn | 2035-3006 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | PAGEPress Publications |
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| series | Mediterranean Journal of Hematology and Infectious Diseases |
| spelling | doaj-art-969b81b0b437419b93f8c0e953c761912025-01-02T22:43:29ZengPAGEPress PublicationsMediterranean Journal of Hematology and Infectious Diseases2035-30062024-01-0116110.4084/MJHID.2024.003ASSOCIATION BETWEEN LEUKEMIC EVOLUTION AND UNCOMMON CHROMOSOMAL ALTERATIONS IN PEDIATRIC MYELODYSPLASTIC SYNDROMEViviane Lamim Lovatel0https://orcid.org/0000-0001-8493-5855Beatriz Ferreira da Silva 1https://orcid.org/0000-0003-4375-9300Eliane Ferreira Rodrigues 2https://orcid.org/0000-0003-0419-567XMaria Luiza Rocha da Rosa Borges 3https://orcid.org/0000-0002-9910-578XRita de Cássia Barbosa Tavares4https://orcid.org/0000-0002-9050-7918Ana Paula Silva Bueno5https://orcid.org/0000-0003-0167-2258Elaine Sobral da Costa6https://orcid.org/0000-0002-5340-5816Terezinha de Jesus Marques 7https://orcid.org/0000-0001-6728-2813Teresa de Souza Fernandez8Cytogenetic Laboratory, Cell and Gene Therapy Program, Instituto Nacional do Câncer (INCA), Rio de Janeiro, RJ, Brazil.Cytogenetic Laboratory, Cell and Gene Therapy Program, Instituto Nacional do Câncer (INCA), Rio de Janeiro, RJ, Brazil.Cytogenetic Laboratory, Cell and Gene Therapy Program, Instituto Nacional do Câncer (INCA), Rio de Janeiro, RJ, Brazil.Centro Oncohematologico Pediátrico, Hospital Universitário Oswaldo Cruz (HUOC), Recife, PE, Brazil.Outpatient Department, Bone Marrow Transplantation Center (CEMO), Instituto Nacional do Câncer (INCA), Rio de Janeiro, RJ, Brazil.Instituto de Puericultura e Pediatria Martagão Gesteira (IPPMG), Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, Brazil. Instituto de Puericultura e Pediatria Martagão Gesteira (IPPMG), Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, Brazil.Centro Oncohematologico Pediátrico, Hospital Universitário Oswaldo Cruz (HUOC), Recife, PE, Brazil.Bone Marrow Transplantation Center, National Cancer Institute (INCA), Rio de Janeiro, RJ, Brazil. Background and objective: Pediatric myelodysplastic syndrome (pMDS) is a group of rare clonal neoplasms with a difficult diagnosis and risk of progression to acute myeloid leukemia (AML). The early stratification in risk groups is essential to choosing the treatment and indication for allogeneic hematopoietic stem cell transplantation (HSCT). According to the Revised International Prognostic Scoring System, cytogenetic analysis has demonstrated an essential role in diagnosis and prognosis. In pMDS, abnormal karyotypes are present in 30-50% of the cases. Monosomy 7 is the most common chromosomal alteration associated with poor prognosis. However, the rarity of specific cytogenetic alterations makes its prognosis uncertain. Thus, this study aimed to describe uncommon cytogenetic alterations in a cohort of 200 pMDS patients and their association with evolution to AML. Methods: The cytogenetic analysis was performed in 200 pMDS patients by G-banding and fluorescence in situ hybridization between 2000 to 2022. Results: Rare chromosome alterations were observed in 7.5% (15/200) of the cases. These chromosome alterations were divided into four cytogenetic groups: hyperdiploidy, biclonal chromosomal alterations, translocations, and uncommon deletions, which represented 33.3%, 33.3%, 20%, and 13.3%, respectively. Most of these patients (10/15) were classified with advanced MDS (MDS-EB and MDS/AML) and the initial subtype was present in five patients (RCC). The leukemic evolution was observed in 66.66% (10/15) of the patients. Most patients had poor clinical outcomes and they were indicated for HSCT. Conclusion: The study of uncommon cytogenetic alterations in pMDS is important to improve the prognosis and guide early indication of HSCT. Keywords: Pediatric MDS; Leukemic evolution; rare chromosomal altwerations; HSCT, Children https://mjhid.org/mjhid/article/view/5476Pediatric myelodysplastic syndromeuncommon chromosomal abnormalitiesleukemia evolutionprognosis |
| spellingShingle | Viviane Lamim Lovatel Beatriz Ferreira da Silva Eliane Ferreira Rodrigues Maria Luiza Rocha da Rosa Borges Rita de Cássia Barbosa Tavares Ana Paula Silva Bueno Elaine Sobral da Costa Terezinha de Jesus Marques Teresa de Souza Fernandez ASSOCIATION BETWEEN LEUKEMIC EVOLUTION AND UNCOMMON CHROMOSOMAL ALTERATIONS IN PEDIATRIC MYELODYSPLASTIC SYNDROME Mediterranean Journal of Hematology and Infectious Diseases Pediatric myelodysplastic syndrome uncommon chromosomal abnormalities leukemia evolution prognosis |
| title | ASSOCIATION BETWEEN LEUKEMIC EVOLUTION AND UNCOMMON CHROMOSOMAL ALTERATIONS IN PEDIATRIC MYELODYSPLASTIC SYNDROME |
| title_full | ASSOCIATION BETWEEN LEUKEMIC EVOLUTION AND UNCOMMON CHROMOSOMAL ALTERATIONS IN PEDIATRIC MYELODYSPLASTIC SYNDROME |
| title_fullStr | ASSOCIATION BETWEEN LEUKEMIC EVOLUTION AND UNCOMMON CHROMOSOMAL ALTERATIONS IN PEDIATRIC MYELODYSPLASTIC SYNDROME |
| title_full_unstemmed | ASSOCIATION BETWEEN LEUKEMIC EVOLUTION AND UNCOMMON CHROMOSOMAL ALTERATIONS IN PEDIATRIC MYELODYSPLASTIC SYNDROME |
| title_short | ASSOCIATION BETWEEN LEUKEMIC EVOLUTION AND UNCOMMON CHROMOSOMAL ALTERATIONS IN PEDIATRIC MYELODYSPLASTIC SYNDROME |
| title_sort | association between leukemic evolution and uncommon chromosomal alterations in pediatric myelodysplastic syndrome |
| topic | Pediatric myelodysplastic syndrome uncommon chromosomal abnormalities leukemia evolution prognosis |
| url | https://mjhid.org/mjhid/article/view/5476 |
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