Abstract
t(9;22) as a secondary change of inv(16) is a rare chromosome aberration in de novo acute myeloid leukemia (AML). Here, we report the case of a 31-year-old man with this rare abnormality. Karyotypic analysis showed a complex chromosome aberration:46,XY,der(8)t(8;10)(p23;q25),der(10)t(8;10)t(10;16)(p13;q22),der(16)inv(16)(p13q22)t(10;16)[4] and 46,XY,idem,t(9;22)(q34;q11)[6]. Fluorescence in situ hybridization detected both the CBFB and the BCR/ABL1 rearrangements. CBFB/MYH11 (A type) and BCR/ABL1 (b3a2) fusion transcripts were both detected by real-time quantitative RT-PCR. The patient was treated with standard AML chemotherapy and autologous peripheral blood stem cell transplantation. He also received imatinib (400 mg/day) during the chemotherapy intervals and after transplantation. Molecular remission was achieved at the beginning of the third chemotherapy and he remained in remission until the last follow-up (22 months after diagnosis). To our knowledge, this is the first reported case of de novo AML in which has p210BCR/ABL1 occurred as a secondary change of inv(16).
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References
Heerema-McKenney A, Arber DA. Acute myeloid leukemia. Hematol Oncol Clin North Am. 2009;23:633–54.
Pui CH, Relling MV, Downing JR. Acute lymphocytic leukemia. N Engl J Med. 2004;350:1535–48.
Pallisgaard N, Hokland P, Riishøj DC, Pedersen B, Jørgensen P. Multiplex reverse transcription-polymerase chain reaction for simultaneous screening of 29 translocations and chromosomal aberrations in acute leukemia. Blood. 1998;92(2):574–88.
Ninomiya S, Kanemura N, Tsurumi H, Kasahara S, Hara T, Yamada T, et al. Coexistence of inversion 16 and Philadelphia chromosome comprising P190 BCR/ABL in chronic myeloid leukemia blast crisis. Int J Hematol. 2011;93:806–10.
Wu Y, Slovak ML, Snyder DS, Arber DA. Coexistence of inversion 16 and the Philadelphia chromosome in acute and chronic myeloid leukemias: report of six cases and review of literature. Am J Clin Pathol. 2006;125:260–6.
Preudhomme C, Lai JL, Plantier I, Demory JL, Zandecki M, Fenaux P. Cytogenetic and molecular remission in a case of acute myeloid leukaemia (AML) with inversion of chromosome 16 (inv(16)) and Philadelphia chromosome (Ph). Br J Haematol. 1992;82:623–6.
Siddiqui AD, Sheikh ZS, Liu D, Seiter K. Coexistence of inversion 16 and the Philadelphia chromosome in patients with acute myelogenous leukemia. Leuk Lymphoma. 2002;43:1137–40.
Li YS, Hayhoe FG. Ph1 chromosome positive acute myelomonocytic leukaemia with inverted chromosome 16. Br J Haematol. 1988;69:576.
Miura I, Takatsu H, Yamaguchi A, Hashimoto K, Nimura T, Nishinari T, et al. Standard Ph chromosome, t(9;22)(q34;q11), as an additional change in a patient with acute myelomonocytic leukemia (M4Eo) associated with inv(16)(p13q22). Am J Hematol. 1994;45:94–6.
Secker-Walker LM, Morgan GJ, Min T, Swansbury GJ, Craig J, Yamada T, et al. Inversion of chromosome 16 with the Philadelphia chromosome in acute myelomonocytic leukemia with eosinophilia. Report of two cases. Cancer Genet Cytogenet. 1992;58:29–34.
Svaldi M, Lanthaler A, Venturi R, Coser P, Mitterer M. Simultaneous occurrence of bcr-abl and inv16 in a case of M1 acute myeloid leukemia. Leukemia. 2001;15:695.
Tirado CA, Valdez F, Klésse L, Karandikar NJ, Uddin N, Arbini A, et al. Acute myeloid leukemia with inv(16) with CBFB-MYH11, 3′CBFB deletion, variant t(9;22) with BCR-ABL1, and del(7)(q22q32) in a pediatric patient: case report and literature review. Cancer Genet Cytogenet. 2010;200:54–9.
Cividin M, Brizard F, Sorel N, Renaud M, Guilhot F, Brizard A. p190(BCR-ABL) rearrangement as a secondary change in a case of acute myelo-monocytic leukemia with inv(16)(p13q22). Leuk Res. 2004;28:97–9.
Roth CG, Contis L, Gupta S, Agha M, Safyan E. De novo acute myeloid leukemia with Philadelphia chromosome (BCR-ABL) and inversion 16 (CBFB-MYH11): report of two cases and review of the literature. Leuk Lymphoma. 2011;52:531–5.
Marcucci G, Mrózek K, Ruppert AS, Maharry K, Kolitz JE, Moore JO, et al. Prognostic factors and outcome of core binding factor acute myeloid leukemia patients with t(8;21) differ from those of patients with inv(16): a Cancer and Leukemia Group B study. J Clin Oncol. 2005;23:5705–17.
Mozziconacci MJ, Sainty D, Gabert J, Arnoulet C, Simonetti J, Toiron Y, et al. The Philadelphia chromosome as a secondary abnormality in two cases of acute myeloid leukemia. Br J Haematol. 1998;102:873–5.
Katsuno M, Yamashita S, Sadamura S, Umemura T, Hirata J, Nishimura J, et al. Late-appearing Philadelphia chromosome in a patient with acute nonlymphocytic leukaemia derived from myelodysplastic syndrome: detection of P210- and P190-type bcr/abl fusion gene transcripts at the leukaemic stage. Br J Haematol. 1994;87:51–6.
Bacher U, Haferlach T, Alpermann T, Zenger M, Hochhaus A, Beelen DW, et al. Subclones with the t(9;22)/BCR-ABL1 rearrangement occur in AML and seem to cooperate with distinct genetic alterations. Br J Haematol. 2011;152:713–20.
Acknowledgments
This work was supported by a grant from the National Natural Science funds (No. 81000222). We thank the Molecular Lab of our institute for performing the PCR assays.
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Dai, Hp., Xue, Yq., Wu, L. et al. p210BCR/ABL1 as a secondary change in a patient with acute myelomonocytic leukemia (M4Eo) with inv(16). Int J Hematol 96, 814–817 (2012). https://doi.org/10.1007/s12185-012-1190-y
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DOI: https://doi.org/10.1007/s12185-012-1190-y