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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References

1. Locatelli F, Strahm B. How I treat myelodysplastic syndromes of childhood. Blood. 2018; 131(13):1406-1414. https://doi.org/10.1182/blood-2017-09-765214
2. Khoury JD, Solary E, Abla O, Akkari Y, Alaggio R, Apperley JF, et al. The 5th edition of the World Healthy Organization Classification of Haematolymphoid Tumors: Myeloid and Histiocytic/Dendritic Neoplasms. Leukemia 2022; 36:1703-1719. https://doi.org/10.1038/s41375-022-01613-1
3. Greenberg PL, Tuechler H, Schanz J, Sanz G, Garcia-Manero G, Solé F et al. Revised International Prognostic Scoring System for Myelodysplastic Syndromes. Blood. 2012; 120(12):2454-2465. https://doi.org/10.1182/blood-2012-03-420489
4. Hasle H. Myelodysplastic and myeloproliferative disorders of childhood. Hematology Am Soc Hematol Educ Program. 2016; 2016(1):598-604. https://doi.org/10.1182/asheducation-2016.1.598.
5. Giagounidis A, Haase D. Morphology, cytogenetics and classification of MDS. Best Pract Res Clin Haematol. 2013;26(4):337-353. https://doi.org/10.1016/j.beha.2013.09.004.
6. Bejar R, Stevenson K, Abdel-Wahab O, Galili N, Nilsson B, Garcia-Manero G, Kantarjian H, Raza A, Levine RL, Neuberg D, Ebert BL. Clinical effect of point mutations in myelodysplastic syndromes. N Engl J Med. 2011;364(26):2496-506. https://doi.org/10.1056/NEJMoa1013343.
7. Bernard E, Tuechler H, Greenberg PL, Hasserjian RP, Ossa JEA, Nannya Y et al. Molecular International Prognostic Scoring System for Myelodysplastic Syndromes. NEJM Evid 2022; 1 (7). https://doi.org/10.1056/EVIDoa2200008
8. Hasle H, Niemeyer CM. Advances in the prognostication and management of advanced MDS in children. Br J Haematol. 2011; 154(2):185-95. https://doi.org/10.1111/j.1365-2141.2011.08724.x.
9. De Witte T, Bowen D, Robin M, Malcovati L, Niederwieser D, et al. Allogeneic hematopoietic stem cell transplantation for MDS and CMML: recommendations from an international expert panel. Blood. 2017; 129:1753-1762. https://doi.org/10.1111/j.1365-2141.2011.08724.x
10. Ertz-Archambault N, Kosiorek H, Slack JL, Lonzo ML, Greipp PT, et al. Cytogenetic Evolution in Myeloid Neoplasms at Relapse after Allogeneic Hematopoietic Cell Transplantation: Association with Previous Chemotherapy and Effect on Survival. Biol Blood Marrow Transplant. 2017; 23(5):782-789. https://doi.org/10.1016/j.bbmt.2017.02.003.
11. Greenmyer JR, Thompson WS, Hoppman NL, Khan S, Patnaik MS, Schimmenti LA, Kohorst MA. 3q21 deletion affects GATA2 and is associated with myelodysplastic syndrome. Br J Haematol. 2022;196(4):1120-1123. https://doi.org/10.1111/bjh.17902.
12. Atlas of Genetics and Cytogenetics in Oncology and Haematology in 2013. Huret JL, Ahmad M, Arsaban M, et al. Nucleic Acids Res. 2013 Jan;41(Database issue):D920–4. https://doi.org/10.1093/nar/gks1082.
13. Voit RA, Sankaran VG. MECOM Deficiency: from Bone Marrow Failure to Impaired B-Cell Development. J Clin Immunol. 2023;43(6):1052-1066. https://doi.org/10.1007/s10875-023-01545-0.
14. Hock H, Shimamura A. ETV6 in hematopoiesis and leukemia predisposition. Semin Hematol. 2017;54(2):98-104. https://doi.org/10.1053/j.seminhematol.2017.04.005.
15. Zhang Z, Chen L, Xu P, Xing L, Hong Y, Chen P. Gene correlation network analysis to identify regulatory factors in sepsis. J Transl Med. 2020;18(1):381. https://doi.org/10.1186/s12967-020-02561-z.
16. Du Y, Li C, Zhao Z, Liu Y, Zhang C, Yan J. Efficacy and safety of venetoclax combined with hypomethylating agents for relapse of acute myeloid leukemia and myelodysplastic syndrome post allogeneic hematopoietic stem cell transplantation: a systematic review and meta-analysis. BMC Cancer. 2023;23(1):764. https://doi.org/10.1186/s12885-023-11259-6.
17. Hong S, Rybicki L, Corrigan D, Hamilton BK, Sobecks R, Kalaycio M, Gerds AT, Dean RM, Hill BT, Pohlman B, Jagadeesh D, Anwer F, Majhail NS. Survival following relapse after allogeneic hematopoietic cell transplantation for acute leukemia and myelodysplastic syndromes in the contemporary era. Hematol Oncol Stem Cell Ther. 2021;14(4):318-326. https://doi.org/10.1016/j.hemonc.2020.11.006.
18. Zuanelli Brambilla C, Lobaugh SM, Ruiz JD, Dahi PB, Goldberg AD, Young JW et al. Relapse after Allogeneic Stem Cell Transplantation of Acute Myelogenous Leukemia and Myelodysplastic Syndrome and the Importance of Second Cellular Therapy. Transplant Cell Ther. 2021;27(9): 771.e1-771.e10. https://doi.org/10.1016/j.jtct.2021.05.011.
19. Schroeder T, Czibere A, Platzbecker U, Bug G, Uharek L, Luft T et al. Azacitidine and donor lymphocyte infusions as first salvage therapy for relapse of AML or MDS after allogeneic stem cell transplantation. Leukemia 2013;27(6):1229–1235. https://doi.org/10.1038/leu.2013.7.
20. Neukirchen J, Lauseker M, Hildebrandt B, Nolting AC, Kaivers J, Kobbe G et al. Cytogenetic clonal evolution in myelodysplastic syndromes is associated with inferior prognosis. Cancer. 2017;123(23):4608-4616. https://doi.org/10.1002/cncr.30917.

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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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