title: A rare cytogenetic presentation of acute myeloid leukemia (AML-M2).
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.
authors: Department of Pathology, Cytogenetic Unit, Kidwai Memorial Institute of Oncology, Bangalore, India. khazarson@gmail.com
authors: Prasanna
authors: P
authors: Kumari
authors: Bidadi
authors: B
authors: LingappaKavitha
authors: Chintaparthi
authors: C
authors: Obula Reddy
authors: Maiana
authors: M
authors: Mangalagowri
authors: Danem Satienariana
authors: DS
authors: Madhumathi
authors: Madaiah
authors: M
authors: Mahadeva Prasad
authors: Hanumanthappa Vijay
authors: HV
authors: Raghavendra
authors: Chennagiri Shinivasa Murthy
authors: CS
authors: Premalata
authors: Kuntejowdahalli Channaviriappa
authors: KC
authors: Lakshmaiah
authors: Seyed Hashem
authors: SH
authors: Mir Mazloumi
mesh_terms: D000293:Adolescent; D000328:Adult; D014408:Biomarkers, Tumor / Q000032:analysis; D002877:Chromosomes, Human; D002891:Chromosomes, Human, Pair 21; D002892:Chromosomes, Human, Pair 22; D002898:Chromosomes, Human, Pair 8; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D005260:Female; D015321:Gene Rearrangement; D020022:Genetic Predisposition to Disease; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008297:Male; D010641:Phenotype; D011379:Prognosis; D055815:Young Adult
chemical_list: D014408:Biomarkers, Tumor