A unusual three way complex rearrangement t(6;8,21)(p23;q22;q22) with RUNX1/RUNX1T1 fusion resulting in partial trisomy for region 8q22 to 8qter : a new variant of t(8;21) in acute myeloid leukemia(M2)
Journal Title: International Journal of Medical Science And Advanced Clinical Research (IJMACR) - Year 2018, Vol 1, Issue 4
Abstract
Background: Acute myeloid leukemia (AML) with t(8;21)(q22;q22) : RUNX1-RUNX1T1 fusion is a distinct type of acute myeloid leukemia (AML), especially in FAB M2. AML with t(8;21)(q22;q22) is associated with a favorable prognosis with good response to chemotherapy with cytosine arabinoside. Material and methods: Morphology, Immunphenotyping, Cytogenetic, FISH and Molecular analysis were performed on bone marrow sample. Results: Morphological and Flow cytometry evaluation classified the case as Acute Myeloid Leukemia with M2 subtype. Chromosomal analysis revealed novel variant with complex three break rearrangement involving chromosome 6,8 and 21 leading to RUNX1/RUNX1T1 fusion by Fluorescence in situ hybridization (FISH) along with probable deletion of 6p23-pter and partial trisomy of 8q22-qter. Molecular markers were negative for FLT3, NPM1 and CEBPA mutations and c-Kit mutations for exons 8 and 17 by DNA. Conclusion: Based on the cytogenetic and FISH findings we report a new variant t(8;21) translocation case in complete remission with a follow-up of 26 months. In our present case a different region of 6p23 is identified resulting from a complex translocation leading to homozygous deletion of chromosome 6 at band 6p23-pter and partial trisomy of 8q22-qter region reinforces the utility of combination of Karyotyping and FISH to characterization of chromosome abnormalities. Complete remission status after 26 months of treatment supports the favorable prognostic behavior of the variant translocations as reported for other variant t(8;21) translocations. Absence of mutations of/within molecular markers such as FLT3, NPM1, c-Kit and CEBPA may lead to a less burden of additional mutational events and help in treatment decisions.
Authors and Affiliations
Dr. Anurita Pais
Keywords
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