Co-expression of t(15;17) and t(8;21) in a Case of Acute Promyelocytic Leukemia: Review of the Literature

Abstract

Additional chromosomal abnormalities in acute myelogenous leukemia have been identified as one of the most important prognostic factors. Favorable chromosomal changes such as t(8;21), inv(16), and t(15;17) are associated with higher rates of complete remission and event-free survival. Translocation (15;17) characterizes acute promyelocytic leukemia (APL) (French-American-British class M3) in almost all patients. Secondary chromosomal abnormalities are also present in approximately 23%-29% of patients with newly diagnosed APL. The prognostic implications of t(8;21) and other secondary cytogenetic aberrations in APL are reviewed here. We present a 47-year-old woman diagnosed with APL whose initial cytogenetic analysis included both t(8;21) and t(15;17). The initial induction chemotherapy included 3 days of idarubicin (12 mg/m2/day) and daily all-trans retinoic acid (ATRA; 45 mg/m2/day). At the sixth week of treatment, a control bone marrow biopsy was found to be normocellular, t(15;17) bcr3 and t(8;21) were negative, and t(15;17) bcr1 fusion transcripts were reduced from 5007 (1.78525699%) copies per 1 µg RNA to 40 (0.00062020%) with real-time quantitative polymerase chain reaction. Consolidation with 4 days of idarubicin (5 mg/m2/day), ATRA (45 mg/m2/day for 15 days), and cytarabine (1 g/m2/day for 4 days) was then started. However, the patient became pancytopenic and had neutropenic fever after consolidation treatment. Unfortunately, she died 3 months after the time of APL diagnosis, due to acute respiratory distress syndrome-like respiratory problems and multiorgan dysfunction requiring respiratory support and hemodialysis. Conflict of interest:None declared.

Analytical study of RUNX1-RUNXT1, PML-RARA, CBFB-MYH11, BCR-ABL1p210, and KMT2-MLLT3 in Mexican children with acute myeloid leukemia: A multicenter study of the Mexican interinstitutional group for the identification of the causes of childhood leukemia (MIGICCL)

“…However, our results showed a frequency that was ∼9% higher than that found in studies from the United States, Europe, Asia, and Australia, but it was 2.5% lower than that reported for the Japanese population ( Supplementary Table S2 ). This fusion gene was prevalent in M2, but it was also detected in M1, M3, M4, and M7, in agreement with other studies, but there are no studies about their clinical impact ( 7 – 9 , 24 – 27 ). PML-RARA had a prevalence that was ∼10% higher than that found in studies from the United Kingdom, Germany, Japan, and Austria, but not for Brazil, whose population has a 1.5% lower frequency ( Supplementary Table S2 ).…”

Early mortality in acute promyelocytic leukemia: Potential predictors (Review)

“…Co-expression of t(8;21) and t(15;17) is rare in APL, with only 6 patients reported at present ( 79 – 84 ). Neto et al ( 79 ) reported a case of APL-M3V which was sensitive to ATRA treatment, and detected a novel t(8;21) chromosomal aberration between 3 and 18 months after initial treatment.…”

“…No ED occurred during primary therapy, despite a high rate of relapse. A favorable response to chemotherapeutic induction indicated that the ATRA and idarubicin and Ara-C induction treatment was suitable for this complex karyotype ( 84 ). Another study also suggested that at the time of diagnosis the rate of M2 leukemic cells could be tested using polymerase chain reaction detection and the alteration of bone marrow cell kinetics may trigger t(8;21) via complex mechanisms following chemotherapy ( 79 ).…”