Letters to the Editor
Vol. 14 No. 1 (2022): Review Articles, Original Article, Scientific Letter, Case Reports Letter to the Editor
Clinical and Prognostic Features in a Young Adult Patient with de novo Myelodysplastic Syndrome presenting t(11;16) (q23; q24)
Publisher's note
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Received: September 29, 2021
Accepted: December 11, 2021
Accepted: December 11, 2021
1086
Views
447
Downloads
193
HTML
Authors
hematopoietic clonal neoplasms. MDS occurs mainly in elderly patients. KMT2A rearrangements (KMT2A-r) are rare in MDS, so little is known about their prognostic value. The present study describes the clinical characteristics of a young adult patient diagnosed with MDS-EB-2, presenting the t(11;16)(q23;q24). The Decitabine treatment was initiated since no matching donor was found. The patient showed improved anemia and thrombocytopenia. However, he still had severe neutropenia and clonal chromosomal alteration. Two months after the fifth cycle of Decitabine, the patient presented a worsening of the clinical parameters with increased blast and evolution to AML. He was treated with intensification chemotherapy, but despite all efforts, the patient evolved to death. Treatment refractoriness and leukemia transformation suggest that t(11;16)(q23;q24) with KMT2A-r was associated with poor prognosis. This study reinforces the importance of characterizing new chromosomal alterations and their impact on prognosis in MDS.
Downloads
Download data is not yet available.
Citations
Bacher U, Schanz J, Braulke F, Haase D. Rare cytogenetic abnormalities in myelodysplastic syndromes. Mediterr J Hematol Infect Dis. 2015; 7: e2015034. https://doi.org/10.4084/MJHID.2015.034
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; 120:2454-2465. https://doi.org/10.1182/blood-2012-03-420489
Garcia-Manero G, Chien KS, Montalban-Bravo G. Myelodysplastic syndromes: 2021 update on diagnosis, risk stratification and management. Am J Hematol. 2020;95(11):1399-1420. https://doi.org/10.1002/ajh.25950
de Souza DC, Fernandez C de S, Camargo A, Apa AG, da Costa ES, Bouzas LF, et al. Cytogenetic as an important tool for diagnosis and prognosis for patients with hypocellular primary myelodysplastic syndrome. Biomed Res Int. 2014; 2014:542395. https://doi.org/10.1155/2014/542395
McGowan-Jordan J, Simons A, Schmid M, editors. ISCN 2016: an international system for human cytogenetic nomenclature. Basel: Karger; 2016.
Pezzi A, Moraes L, Valim V, Amorin B, Melchiades G, Oliveira F, et al. DNMT3A Mutations in Patients with Acute Myeloid Leukemia in South Brazil. Adv Hematol. 2012; 2012: 697691. https://doi.org/10.1155/2012/697691
Meyer C, Burmeister T, Gröger D, Tsaur G, Fechina L, Renneville A, et al. The MLL recombinome of acute leukemias in 2017. Leukemia 2018; 32: 273-284. https://doi.org/10.1038/leu.2017.213.
Zuo W, Wang SA, DiNardo C, Yabe M, Li S, Medeiros LJ, et al. Acute leukaemia and myelodysplastic syndromes with chromosomal rearrangement involving 11q23 locus, but not MLL gene. J Clin Pathol. 2017; 70:244-249. http://dx.doi.org/10.1136/jclinpath-2016-203831
Zerkalenkova E, Lebedeva S, Kazakova A, Baryshev P, Meyer C, Marschalek R, et al. A case of pediatric acute myeloid leukemia with t(11;16)(q23;q24) leading to a novel KMT2A-USP10 fusion gene. Genes, Chromosomes and Cancer 2018; 57:522-524. https://doi.org/ -10.1002/gcc.22646
Kwong YL, Tso SC, Wong KF, Tang KC, Chan TK. Translocational rearrangements of 11q23 in acute monoblastic leukemia. Cancer Genet Cytogenet 1995; 82:76‐79. https://doi.org/10.1016/0165-4608(94)00127-W
Heerema NA, Sather HN, Ge J, Arthur DC, Hilden JM, Trigg ME, et al. Cytogenetic studies of infant acute lymphoblastic leukemia: poor prognosis of infants with t(4;11) - a report of the Children's Cancer Group. Leukemia 1999; 13:679‐686. https://doi.org/10.1038/sj.leu.2401413
Rubnitz JE, Raimondi SC, Tong X, Srivastava DK, Razzouk BI, Shurtleff SA, et al. Favorable impact of the t(9;11) in childhood acute myeloid leukemia. J Clin Oncol 2002; 20:2302‐2309. https://doi.org/10.1200/JCO.2002.08.023
Marschalek R. The reciprocal world of MLL fusions: A personal view. Biochim Biophys Acta Gene Regul Mech. 2020; 1863:194547. https://doi.org/10.1016/j.bbagrm.2020.194547.
Santini V. How I treat MDS after hypomethylation agent failure. Blood 2019; 133:521-529. https://doi.org/10.1182/blood-2018-03-785915.
Kuendgen A, Müller-Thomas C, Lauseker M, Haferlach T, Urbaniak P, Schroeder T, et al. Efficacy of azacitidine is independent of molecular and clinical characteristics - an analysis of 128 patients with myelodysplastic syndromes or acute myeloid leukemia and a review of the literature. Oncotarget 2018; 45: 27882-27894. https://doi.org/10.18632/oncotarget.25328
Cedena MT, Rapado I, Santos-Lozano A, Ayala R, Onecha E, Abaigar M, et al. Mutations in the DNA methylation pathway and number of driver mutations predict response to azacitidine in myelodysplastic syndromes. Oncotarget 2018; 56:30936. https://doi.org/10.18632/oncotarget.22157
de Witte T, Bowen D, Robin M, Malcovati L, Niederwieser D, Yakoub-Agha I, 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/10.1182/blood-2016-06-724500
How to Cite
“Clinical and Prognostic Features in a Young Adult Patient with de novo Myelodysplastic Syndrome presenting t(11;16) (q23; q24)” (2022) Mediterranean Journal of Hematology and Infectious Diseases, 14(1), p. e2022013. doi:10.4084/MJHID.2022.013.
Copyright (c) 2021 Viviane Lamim Lovatel, Luize Otero, Ercole Pietro Orlando, Claudia Diniz, Filipe Vicente dos Santos-Bueno, Bruno Almeida Lopes, Elaiza Almeida Antônio de Kós, Monica Kopischitz Praxedes Lusis, Eliana Abdelhay, Teresa de Souza Fernandez
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
