{Reference Type}: Journal Article
{Title}: Acute myeloid leukemia patients with variant or unusual translocations involving chromosomes 8 and 21 - A comprehensive cytogenetic profiling of three cases with review of literature.
{Author}: Akhila Raj TV;Gopinath P;Geetha Raj JA;Narayanan G;Nair SG;Joy Philip DS;Raveendran S;Geetha P;Sreedharan H;
{Journal}: J Cancer Res Ther
{Volume}: 18
{Issue}: 3
{Year}: Apr-Jun 2022
{Factor}: 1.331
{DOI}: 10.4103/jcrt.jcrt_190_21
{Abstract}: <B>UNASSIGNED: </B>t(8;21)(q22;q22) is the most frequent recurrent translocation in acute myeloid leukemia (AML) resulting in an in-frame fusion of RUNX1/RUNX1T1 that regulates various genes involved in the signaling pathways. This leukemogenic alteration is usually associated with a favorable clinical outcome. Variants of t(8;21) can be formed involving a third or fourth chromosome in ~3-4% of t(8;21)-AML. Due to the rarity of variant t(8;21), its clinicopathological features and prognostic significance are still unclear. Here we present three AML cases with cryptic rearrangements of chromosomes 8 and 21 without standard RUNX1/RUNX1T1.<BR><B>UNASSIGNED: </B>Conventional karyotyping and fluorescence in situ hybridization and/or spectral karyotyping of the pretreatment bone marrow aspirate of de novo AML patients were performed to delineate chromosomal abnormalities.<BR><B>UNASSIGNED: </B>We identified three cases with novel variants of t(8;21); der(13)t(8;21;13), isodicentric derivative 8 with chromosome 21[,+idicder(8)(q11.1)t(8;21)(q22;q11.1)] and der(21)t(8;12;21)(q22;q?;q22).<BR><B>UNASSIGNED: </B>AML with t(8;21)(q22;q22);RUNX1-RUNX1T1 forms a distinct WHO subcategory and hence the identification of variants or unusual translocations associated with t(8;21) deserves more attention. Contribution to the variant/ unusual t(8;21) database will further refine the risk stratification and may help to significantly advance the current treatment regimen.