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Acute myeloid leukemia (AML-M2) associated with variant t(8;21): report of three cases
Sook Young Bae1, Jang Su Kim, Bung Jun Ryeu
1Department of Laboratory Medicine, Korea University College of Medicine, Seongbuk-Gu, Seoul, Republic of Korea.
Abstract:
Variants of the t(8;21)(q22;q22) involving chromosome 8, 21, and other chromosomes account for approximately 3% of all t(8;21)(q22;q22) found in patients with acute myeloid leukemia (AML). The clinicopathologic features of AML with the variant t(8;21) have not been well established. We report three cases of AML with variants of t(8;21) characterized, respectively, by derivative 8 with the interstitial inverted insertion of 21q and concurrent monosomy 21, t(8;18;21)(p22;q11.3;q22), and t(2;21;8)(q11.2;q22;q22). Fluorescence in situ hybridization or reverse transcriptase-polymerase chain reaction assay confirmed the presence of RUNX1-RUNX1T1 gene (previously AML1-ETO) rearrangements. Among these cases, three-way breakpoints 18p11.3 and 2q11.2 have not been previously reported. The present report deals with the results of hematologic, immunophenotypic, cytogenetic, fluorescence in situ hybridization, and molecular analyses of these variants. The possible role of the genes in this region in leukemogenesis, response to treatment, and clinical implications are discussed.
Insights
Variant translocations in acute myeloid leukemia (AML) involving chromosomes 8 and 21 are rare. This study details three novel AML cases with variant t(8;21) translocations, including previously unreported breakpoints.
Area of Science:
- Hematology
- Cytogenetics
- Molecular Biology
Background:
- The t(8;21)(q22;q22) translocation is a common cytogenetic abnormality in acute myeloid leukemia (AML).
- Variant translocations involving additional chromosomes in t(8;21) are infrequent, accounting for approximately 3% of cases.
- The clinicopathologic features of AML with variant t(8;21) remain incompletely understood.
Observation:
- This report describes three unique cases of AML with variant t(8;21) translocations.
- Case 1 involved a derivative chromosome 8 with insertion of 21q and concurrent monosomy 21.
- Case 2 presented with a three-way translocation t(8;18;21)(p22;q11.3;q22).
- Case 3 featured a three-way translocation t(2;21;8)(q11.2;q22;q22).
- Novel breakpoints at 18p11.3 and 2q11.2 were identified in these cases.
Findings:
- All cases confirmed RUNX1-RUNX1T1 gene rearrangements using fluorescence in situ hybridization (FISH) or reverse transcriptase-polymerase chain reaction (RT-PCR).
- Comprehensive analyses included hematologic, immunophenotypic, cytogenetic, FISH, and molecular assessments.
- The study details the specific genetic alterations and their characterization in these rare AML variants.
Implications:
- Understanding these rare variants is crucial for accurate diagnosis and risk stratification in AML.
- The identified novel breakpoints may offer insights into leukemogenesis.
- Further research is needed to elucidate the role of genes in these regions and their impact on treatment response and clinical outcomes.
