Clinical and Prognostic Features in a Young Adult Patient with de novo Myelodysplastic Syndrome presenting t(11;16) (q23; q24)

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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


KMT2A rearrangement, de novo MDS, conventional cytogenetics, FISH, prognosis.


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.


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1.Bacher U, Schanz J, Braulke F, Haase D. Rare cytogenetic abnormalities in myelodysplastic syndromes. Mediterr J Hematol Infect Dis. 2015; 7: e2015034.
2.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.
3. 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.
4. 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.
5. McGowan-Jordan J, Simons A, Schmid M, editors. ISCN 2016: an international system for human cytogenetic nomenclature. Basel: Karger; 2016.
6. 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.
7. 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.
8. 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.
9. 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. -10.1002/gcc.22646
10. 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.
11. 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.
12. 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.
13. Marschalek R. The reciprocal world of MLL fusions: A personal view. Biochim Biophys Acta Gene Regul Mech. 2020; 1863:194547.
14. Santini V. How I treat MDS after hypomethylation agent failure. Blood 2019; 133:521-529.
15. 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.
16. 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.
17. 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.