Clinical, Cytogenetic, and Molecular Findings in Two Cases of Variant t(8;21) Acute Myeloid Leukemia (AML)

Abstract

t(8;21)(q22;q22) is present in ~5–10% of patients with de novo acute myeloid leukemia (AML) and is associated with a better overall prognosis. Variants of the t(8;21) have been described in the literature, however, their clinical and prognostic significance has not been well-characterized. Molecular profiling of these cases has not previously been reported but may be useful in better defining the prognosis of this subset of patients. We present two cases of variant t(8;21) AML including clinical, cytogenetic, and molecular data.

Prognosis of RUNX1-RUNX1T1 Rearrangement in Newly Diagnosed Acute Myeloid Leukemia Patients

“…Another case of a 63-year-old female was also described by Lindsey et al, 17 The patient's WBC count was measured to be 6.1 × 10 3 /ìL, with 67% of these cells being myeloblasts on peripheral blood examination. Additionally, her Hb level was 9.1 g/dL, and her platelet count was 4 × 10 3 /ìL.…”

“…[14][15] In classical t(8;21) AML patients, the utilization of anthracycline and cytarabine induction chemotherapy leads to remission rates reaching approximately 90%. [16][17] Our study examined treatment response in 64 de novo t(8;21)/RUNX1-RUNX1T1 AML patients. Notably, male patients (46) outnumbered females (18) in the study.…”

“…A 62-year-old woman was discussed in a case study by Lindsey et al, 17 When she was admitted to the hospital, her white blood cell count was 5 x 10 3 /ìL with 17% blasts, her hemoglobin was 9.1 g/dL, and her platelet count was 22 × 10 3 /ìL. The results of her bone marrow biopsy showed a significant population of blasts with round to irregular, intermediate-sized nuclei, prominent nucleoli, and scant to moderate cytoplasm; 59% blasts according to manual count.…”

Impact of additional genetic abnormalities at diagnosis of chronic myeloid leukemia for first-line imatinib-treated patients receiving proactive treatment intervention

“…44 The Phassociated rearrangements emphasize that the formation of the BCR::ABL1 gene fusion in some patients may result from a multi-step process. 45,46 Similar rearrangements have been identified in other fusion-based hematological malignancies, such as acute promyelocytic leukemia, 47,48 characterized by the PML::RARA fusion, and RUNX1::RUNXT1 mutated acute myeloid leukemia, 49,50 a sub-type generally associated with a favorable prognosis. In both contexts, these genomic findings have been associated with poor outcomes.…”

“…In both contexts, these genomic findings have been associated with poor outcomes. 47,49 The promiscuous KMT2A gene defines a category of aggressive high-risk leukemia with over 100 fusion partners. 51,52 A subset of these patients had complex chromosomal rearrangements, internal tandem duplications, focal gene deletions, and 11q chromosomal inversions and insertions.…”