Articles

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.

Grimwade D, Hills RK, Moorman AV, Walker H, Chatters S, Goldstone AH, Wheatley K, Harrison CJ, Burnett AK; National Cancer Research Institute Adult Leukaemia Working Group. Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Reasearch Council trial. Blood 2010;116(3):354-65.

Vunditi BR, Kerketta L, Madkaikar M, Jijina F, Ghosh K. Three way translocation in a new variant of t(8;21) acute myeloid leukemias involving Xp22. Indian J Cancer 2008;45(1):30-3.

Huang L, Abruzzo LV, Valbuena JR, Mederios LJ, Lin P. Acute myeloid leukemia associated with variant t(8;21) detected by conventional and molecular studies. Am J Clin Pathol 2006; 125(2):267-72.

Udayakumar AM, Alkindi S, Pathare AV, Raeburn JA. Complex t(8;13;21)(q22;q14;q22)- a novel variant of t(8;21) in a patient with acute myeloid leukemia (AMLM2). Arch Med Res 2008;39(2):252-6.

Ishida F, Ueno M, Tanaka H, Makishima H, Suzawa K, Hosaka S, Hidaka E, Ishikawa M, Yamauchi K, Kitano K, Kiyosawa K. T(8;21;14)(q22;q22;q24) is a novel variant of t(8;21) with chimeric transcripts of AM1- ETO in acute myelogenous leukemia. Cancer Genet Cytogenet 2002;132(2):133-5.

Haslo HH, Sashida G, Kodama A, Fukutake K, Ohyashiki. Variant translocation t(2;21;8)(q36;q22;q22) with RUNX1/ CBFA2T1 (AML1/ ETO) transcript in a case of acute myelogenous leukemnia. Cancer Genet Cytogenet 2005;159(1):96-7.

Lisa G. Shaffer, Marilyn L., Slovak, Lynda J. Campbell. “ISCN 2009: An International System for Human Cytogenetic Nomenclature”. 2009.

Miyagi J, Kakazu N, Masuda M, Miyagi T, Toyohama T, Nakazato T, Tomoyose T, Shinjyo T, Nagasaki A, Taira N, Ohki M, Abe T, Takasu N. Acute myeloid leukemia (FABM2) with a masked type of t(8;21) translocation revealed by spectral karyotyping. Int J Hematol 2002;76(4):338-43.

Pileri SA, Ovaji A, Falini B. Myeloid sarcoma in WHO classification of tumors of the haematopoietic and lymphoid disorders. Ed Swerdlon SH, 2008.

Pitz MW, Mashyah O, Morales C, Seftel MD. Myeloid sarcoma of the uterus presenting as vaginal bleeding. Interanal Medicine Journal 2006;36(10);669-71.

Oliva E, Ferry JA, Young RH, Prat J, Srigley JR, Scully RE. Granolocytic sarcoma of the female genital tract. Clinicopathologic study of 11 cases. Am J Pathol 1997;21(10):1156-65.

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IssueVol 50, No 12 (2012) QRcode
SectionArticles
Keywords
Acute myeloid leukemia Complex karyotype Variantmyeloid leukemia Breakpoint Variant
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1.
Kumari P, LingappaKavitha B, Reddy CO, Mangalagowri M, Madhumathi DS, Prasad MM, Raghavendra HV, Murthy Premalata CS, Lakshmaiah KC, Mir Mazloumi SH. A Rare Cytogenetic Presentation of Acute Myeloid Leukemia (AML-M2). Acta Med Iran. 1;50(12):827-830.