Abstract
One case of acute megakaryoblastic leukemia (AMKL) with trisomy 21, trisomy 14 and unmutated GATA1 gene in a phenotypically normal girl was reported. The patient experienced transient myelodysplasia before the onset of AMKL. The bone marrow blasts manifested typical morphology of megakaryoblast both by the May-Giemsa staining and under the electronic microscopy. Leukemic cells were positive for CD13, CD33, CD117, CD56, CD38, CD41 and CD61 in flow cytometry analysis. Cytogenetic study showed karyotype of 48, XX, +14, +21 in 40% metaphases. Known mutations of GATA1 gene in Down syndrome or acquired trisomy 21 were not detected in this case.
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References
Zipursky A, Peeters M, Poon A. Megakaryoblastic leukemia and Down’s syndrome: a review. Pediatr Hematol Oncol 1987; 4:211–230.
Potocki L, Townes PL, Woda BA, et al. Tetrasomy 21 in megakaryoblastic leukemia. Cancer Genet Cytogenet 1994; 74:66–70.
Shin MG, Choi HW, Kim HR, et al. Tetrasomy 21 as a sole acquired abnormality without GATA1 gene mutation in pediatric acute megakaryoblastic leukemia: a case report and review of the literature. Leuk Res 2008; 32:1615–1619.
Hitzler JK, Cheung J, Li Y, et al. GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome. Blood 2003; 101:4301–4304.
Hama A, Yagasaki H, Takahashi Y, et al. Acute megakaryoblastic leukaemia (AMKL) in children: a comparison of AMKL with and without Down syndrome. Br J Haematol 2008;140:552–561.
Polski JM, Galambos C, Gale GB, et al. Acute megakaryoblastic leukemia after transient myeloproliferative disorder with clonal karyotype evolution in a phenotypically normal neonate. J Pediatr Hematol Oncol 2002; 24:50–54.
Wechsler J, Greene M, McDevitt MA, et al. Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. Nat Genet 2002; 32:148–152.
Oki Y, Kantarjian HM, Zhou X, et al. Adult acute megakaryocytic leukemia: an analysis of 37 patients treated at M.D. Anderson Cancer Center. Blood 2006; 107:880–884.
Sandoval C, Pine SR. Down syndrome and GATA1-related transient leukemia. J Pediatr 2007; 150:e34.
Shimizu R, Engel JD, Yamamoto M. Gata1-related leukaemias. Nat Rev Cancer 2008; 8:279–287.
Ahmed M, Sternberg A, Hall G, et al. Natural history of GATA1 mutations in Down syndrome. Blood 2004; 103:2480–2489.
Cabelof DC, Patel HV, Chen Q, et al. Mutational spectrum at GATA1 provides insights into mutagenesis and leukemogenesis in. Blood 2009; 114:2753–2763.
Mundschau G, Gurbuxani S, Gamis AS, et al. Mutagenesis of GATA1 is an initiating event in Down syndrome leukemogenesis. Blood 2003; 101:4298–4300.
Salek-Ardakani S, Smooha G, de Boer J, et al. ERG is a megakaryocytic oncogene. Cancer Res 2009; 69:4665–4673.
Hirose Y, Kudo K, Kiyoi H, et al. Comprehensive analysis of gene alterations in acute megakaryoblastic leukemia of Down’s syndrome. Leukemia 2003; 17:2250–2252.
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Xiao, Y., Wei, J., Xu, Jh. et al. Mosaic trisomy 21 and trisomy 14 as acquired cytogenetic abnormalities without GATA1 mutation in a pediatric non-down syndrome acute megakaryoblastic leukemia. Chin. J. Cancer Res. 23, 239–241 (2011). https://doi.org/10.1007/s11670-011-0239-4
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DOI: https://doi.org/10.1007/s11670-011-0239-4