CD56 antigen expression and hemophagocytosis of leukemic cells in acute myeloid leukemia with t(16;21)(p11;q22)

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.

Hemophagocytic Lymphohistiocytosis Due to Acute Myeloid Leukemia Relapse: A Very Unusual Association

“…Some cytogenetic abnormalities involving 8p11 and 16p13 seem more frequent in AML-associated HLH [4] but our patient leukemic cells had a normal karyotype. Finally, Jekarl et al found a positive correlation between CD56 expression and hemophagocytosis features of the leukemic blast cells [5]. In our case, leukemic cells were CD56 negative in agreement with the fact that HLH was not directly due to the leukemic burden in our patient.…”

Clinical characteristics and laboratory analyses of acute myeloid leukemia with t(16;21)(p11;q22)

“…Tan et al (18) reported a 54-year-old man whose leukemic cells mainly expressed CD7, CD13, CD33, CD34, CD117, CD56, CD64, HLA-DR and cytoplasmic (c)MPO, with positive percentages of 89.9, 53.5, 75.8, 96.7, 99.0, 41.4, 19.9, 98.4 and 97.5%, respectively, while CD11b, CD14, CD15, CD19, CD3, CD45e and CD79a were not expressed (19). In the present three cases, the leukemic blast cells all highly expressed CD7, CD13, CD34, (2) reported that the average percentage of CD56 positive blasts in AML with t(16;21) was 45%. Imashuku et al (9) suggested that the morphology of bone marrow aspirate of patients with AML and t(16;21) was unique.…”

“…t(16;21) (p11;q22) is a rare and non-random chromosomal translocation that causes the rearrangement of erythroblast transformation specific-related gene (ERG) on chromosome 21 and translocated in sarcoma/fused in sarcoma (TLS/FUS) on chromosome 16, forming the TLS/FUS-ERG fusion gene. t(16;21) (p11;q22) occurs with an incidence of 1% in AML (2). The morphology, immunology and clinical manifestation of this translocation are distinct from other subtypes of AML.…”

Pediatric acute myeloid leukemia with t(8;16)(p11;p13), a distinct clinical and biological entity: a collaborative study by the International-Berlin-Frankfurt-Münster AML-study group

“…3 Interestingly, CD56 expression has been associated with both hemophagocytosis rate and leukemia cutis. [40][41][42] This cell surface marker was present in 71% of adult AML patients with t(8;16)(p11;p13). 3 Because of the small number of pediatric cases with data on CD56 expression, we were unable to associate CD56 expression with leukemia cutis or erythrophagocytosis.…”