Case Report AML-M2 with der(18)t(1;18)(q2?;p11.3) in addition to t(8;21) and del(9q)

Total or partial duplication of chromosome 1q and whole arm translocation can result from unbalanced translocation of chromosomes, isochromosomes or jumping translocations. These structural rearrangements are reported as secondary aberrations associated with tumor progression, and advanced disease. Partial duplication of 1q resulting from der(18)t(1;18)(q12;p11) has been reported in Fanconi anemia progressing into myelodysplastic syndrome (MDS). Translocation of 1q We report a case of Acute Myeloid Leukemia with clinical features suggestive of AML-M3 and 46,XX,t(8;21),del(9q),der(18)t(1;18) karyotype leading to the final diagnosis AML-M2 in light of t(8;21). The Deletion (9q) is a frequent secondary anomaly to the t(8;21)(q22;q22) in AML-M2. In addition to these two AMLM2 related rearrangements we also observed der(18)t(1;18)(q2?;p11.3) which may be an unusual rearrangement. This rearrangement resulted into partial trisomy of chromosome #1(q2?) without the loss of any part of chromosome 18, morphologically. Rearrangements of long arm of chromosome 1 that result in complete or partial trisomy for 1q mostly involved the region q25-q32, which may confer a proliferation advantage.