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

Bakshi, Sonal R; Roy, Shambhu K; Trivedi, Pina J; Brahmbhatt, Manisha M; Rawal, Shwetal M; Kakadia, Purvi M; Bhatt, Samarth S.
Indian J Hum Genet ; 2004 Jul; 10(2): 78-80
Artículo en Inglés | IMSEAR | ID: sea-143370
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.