Abstract
The translocation t(16;21)(p11;q22) is rare, occurs with an incidence of 1%, in acute myeloid leukemia (AML), forming TLS/FUS-ERG fusion transcript, and it is known to cause the hemophagocytosis and vacuolation of leukemic cells. As previously reported cases numbered less than 60, we aimed to identify the clinical and genetic aspects of AML with t(16;21). Among 1,277 patients diagnosed with de novo and secondary AML, 12 AML patients with t(16;21) were retrospectively evaluated (0.94%, 12/1,277). AML with t(16;21) expressed CD56 with a median value of 45% (7.8–87%), and the rate of hemophagocytosis plus vacuolation of leukemic cells was 2.9% (2.0–9.0%). CD56 antigen expression showed a correlation with the total rate of hemophagocytosis plus vacuolation, with a correlation coefficient of 0.663 (P = 0.019). AML with t(16;21) expressed CD13, CD33, CD34, CD117, CD56, HLA-DR, and cytoplasmic myeloperoxidase. RUNX1, which regulates a gene for hematopoiesis, is frequently mutated in AML and, in this study, one out of three patients showed the mutation R174Q in RUNX1. All of these 3 patients showed the fusion transcript TLS/FUS-ERG, which was detected by multiplex or nested PCR. AML with t(16;21) showed a very low rate of complete remission after induction chemotherapy (8.3%), and high relapse (75%) and mortality (75%) rates. AML with t(16;21) exhibited a distinct morphology with frequent CD56 expression and a poor prognosis.
Similar content being viewed by others
References
Morgan R, Riske CB, Meloni A, Ries CA, Johnson CH, Lemons RS, et al. t(16;21)(p11.2;q22): a recurrent primary rearrangement in ANLL. Cancer Genet Cytogenet. 1991;53:83–90.
Imashuku S, Hibi S, Sako M, Lin Y-W, Ikuta K, Nakata Y, et al. Hemophagocytosis by leukemic blasts in 7 acute myeloid leukemia cases with t(16;21)(p11;q22). Cancer. 2000;88:1970–5.
Kong X-T, Ida K, Ichikawa H, Shimizu K, Ohki M, Maseki N, et al. Consistent detection of TLS/FUS-ERG chimeric transcripts in acute myeloid leukemia with t(16;21)(p11;q22) and identification of a novel transcript. Blood. 1997;90:1192–9.
Bona ED, Sartori R, Zambello R, Guercini N, Madeo D, Rodeghiero F. Prognostic significance of CD56 antigen expression in acute myeloid leukemia. Haematologica. 2002;87:250–6.
Baer MR, Stewart CC, Lawrence D, Arthur DC, Byrd JC, Davey FR, et al. Expression of the neural cell adhesion molecule CD56 is associated with short remission duration and survival in acute myeloid leukemia. Blood. 1997;90:1643–8.
Raspadori D, Damiani D, Lenoci M, Rondelli D, Testoni N, Nardi G, et al. CD56 antigenic expression in acute myeloid leukemia identifies patients with poor clinical prognosis. Leukemia. 2001;15:1161–4.
Shikami M, Miwa H, Nishi K, Takahashi T, Shiku H, Tsutani H, et al. Myeloid differentiation antigen and cytokine receptor expression on acute myeloid leukemia cells with t(16;21)(p11;q22): frequent expression of CD56 and interleukin-2 receptor alpha chain. Br J Haematol. 1999;105:711–9.
Cho B-S, Min C-K, Eom K-S, Kim Y-J, Kim H-J, Lee S, et al. Feasibility of NIH consensus criteria for chronic graft versus host disease. Leukemia. 2009;23:78–84.
Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, et al., editors. WHO classification of tumors of haematopoietic and lymphoid tissues. Lyon: IARC; 2008. p. 109–47.
Shaffer LG, Slovak ML, Campbell LJ, editors. ISCN 2009: an international system for human cytogenetic nomenclature. Basel: Karger; 2009.
Dicker F, Haferlach C, Kern W, Haferlach T, Schnittger S. Trisomy 13 is strongly associated with AML1/RUNX1 mutations and increased FLT3 expression in acute myeloid leukemia. Blood. 2007;110:1308–16.
Strehl S, Konig M, Mann G, Haas OA. Multiplex reverse transcriptase polymerase chain reaction screening in childhood acute myeloid leukemia. Blood. 2001;97:805–8.
Foadi MD, Slater AG, Pegrum GD. Erythrophagocytosis by acute lymphoblastic leukaemic cells. Scand J Haematol. 1978;20:85–7.
Shanley JD, Cline MJ. Phagocytosis of hematopoietic cells by blast cells in blast crisis of chronic myelocytic leukemia. West J Med. 1977;126:139–41.
Spivak JL. Phagocytic tumor cells. Scand J Haematol. 1973;11:253–6.
Utzsinger PB, Yount WJ, Fuller CR, Logue MJ, Orringer EP. Hairy cell leukemia: B lymphocyte and phagocytic properties. Blood. 1977;49:19–23.
Savage DG, Zipin D, Bhagat G, Alobeid B. Hemophagocytic, non-secretary multiple myeloma. Leuk Lymphoma. 2004;45:1061–4.
Gervais C, Murati A, Helias C, Struski S, Eischen A, Lippert E, et al. Acute myeloid leukemia with 8p11 (MYST3) rearrangement: an integrated cytologic, cytogenetic and molecular study by the groupe francophone de cytogénétique hématologique. Leukemia. 2008;22:1567–8.
Kim JW, Park TS, Song JW, Lee KA, Hong DJ, Min YH, et al. Detection of FUS-ERG chimeric transcript in two cases of acute myeloid leukemia with t(16;21)(p11.2;q22) with unusual characteristics. Cancer Genet Cytogenet. 2009;194:111–8.
Ikushima S, Yoshihara T, Matsumura T, Misawa S, Morioka Y, Hibi S, et al. Expression of CD56/NCAM on hematopoietic malignant cells. Int J Hematol. 1991;54:395–403.
Song W-J, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D, et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet. 1999;23:166–75.
Roumier C, Fenaux P, Lafage M, Imbert M, Eclache V, Preudhomme C. New mechanism of AML1 gene alteration in hematological malignancies. Leukemia. 2003;17:9–16.
Tang JL, Hou HA, Chen CY, Liu CY, Chou WC, Tseng MH, et al. AML1/RUNX1 mutations in 470 adult patients with de novo acute myeloid leukemia: prognostic implication and interaction with other gene alterations. Blood. 2009;114:5352–61.
Auewarakul CU, Leecharendkeat A, Tocharoentanaphol C, Promsuwicha O, Sritana N, Thongnoppakhun W. AML1 mutation and its coexistence with different transcription factor gene families in de novo acute myeloid leukemia: redundancy or synergism. Haematologica. 2007;92:861–2.
Matheny CJ, Speck ME, Cushing PR, Zhou Y, Corpora T, Regan M, et al. Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles. EMBO J. 2007;26:1163–75.
Acknowledgments
This work was supported by the “Development of Core Components in Bio-robot System (10024719)” under the ‘Industrial Source Technology Development Programs’ of the Ministry of Knowledge Economy (MKE) of Korea.
Author information
Authors and Affiliations
Corresponding author
Additional information
D. W. Jekarl and M. Kim contributed equally to this work.
About this article
Cite this article
Jekarl, D.W., Kim, M., Lim, J. et al. CD56 antigen expression and hemophagocytosis of leukemic cells in acute myeloid leukemia with t(16;21)(p11;q22). Int J Hematol 92, 306–313 (2010). https://doi.org/10.1007/s12185-010-0650-5
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12185-010-0650-5