Acta Medica Iranica 2012. 50(12):827-830.

A Rare Cytogenetic Presentation of Acute Myeloid Leukemia (AML-M2)
Prasanna Kumari, Bidadi LingappaKavitha, Chintaparthi Obula Reddy, Maiana Mangalagowri, Danem Satienariana Madhumathi, Madaiah Mahadeva Prasad, Hanumanthappa Vijay Raghavendra, Chennagiri Shinivasa Murthy Premalata, Kuntejowdahalli Channaviriappa Lakshmaiah, Seyed Hashem Mir Mazloumi

Abstract


Acute myeloid leukemia (AML) with t(8;21)(q22;q22) generating the AML1/ETO fusion gene on 8q22 is a distinct type of AML t(8;21) category (WHO)/AML-M2 (FAB), generally associated with a favourable prognosis. Variant additional chromosomal abnormalities are frequently reported. We report three adult cases of this category with unusual karyotype. Bone marrow cytogenetics of case no. 1: 45,X,-Y, t(8;21)(q13;q22) with a novel breakpoint of chromosome 8 at (q13). Case no. 2: 46,X,t(X;2)(q22;q37),t(3;7)(q21;q36),t(5;14)(p15;q11),del(8)(q22) a complex rearrangement without the involvement of chromosome 21. Case no. 3: 49,XX,+5, t(8;21)(q22;q22), +16, +der(21)t(8;21)(q22;q22) with additional der(21). Endometrial in this case which was positive for myeloperoxidase (MPO) and CD117 conforming the AML infiltration. All are morphologically AML with t(8;21). Relevant literature in cytogenetic of AML-M2 is reviewed. The molecular mechanism involved in unusual rearrangements and clinical significance of them are subjected for further studies.


Keywords


Acute myeloid leukemia; Complex karyotype; Variantmyeloid leukemia; Breakpoint; Variant

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