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

Abstract
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 AML-M2 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.
Description
Keywords
Acute Myeloid leukemia M-2, Karyotyping, Fluorescence In Situ Hybridization, der(18)t(1;18)(q2?;p11.3), t(8;21), del(9q)
Citation
Bakshi Sonal R, Roy Shambhu K, Trivedi Pina J, Brahmbhatt Manisha M, Rawal Shwetal M, Kakadia Purvi M, Bhatt Samarth S. AML-M2 with der(18)t(1;18)(q2?;p11.3) in addition to t(8;21) and del(9q). Indian Journal of Human Genetics. 2004 Jul; 10(2): 78-80.