Ann Lab Med.  2012 Sep;32(5):362-365. 10.3343/alm.2012.32.5.362.

Detection of RUNX1-MECOM Fusion Gene and t(3;21) in a Very Elderly Patient Having Acute Myeloid Leukemia with Myelodysplasia-Related Changes

• Yang JJ
• Cho SY
• Suh JT
• Lee HJ
• Lee WI
• Yoon HJ
• Baek SK
• Park TS

• KMID: 1387352
• DOI: http://doi.org/10.3343/alm.2012.32.5.362

Abstract

An 87-yr-old woman was diagnosed with AML with myelodysplasia-related changes (AML-MRC). The initial complete blood count showed Hb level of 5.9 g/dL, platelet counts of 27x10(9)/L, and white blood cell counts of 85.33x10(9)/L with 55% blasts. Peripheral blood samples were used in all the tests, as bone marrow examination could not be performed because of the patient's extremely advanced age and poor general health condition. Flow cytometric analysis, chromosome analysis, FISH, and reverse transcriptase-PCR (RT-PCR) results indicated AML-MRC resulting from t(3;21) with the RUNX1-MECOM fusion gene. To our knowledge, this is the second most elderly de novo AML patient associated with t(3;21) to be reported.

Keyword

RUNX1; MECOM; t(3;21); Acute myeloid leukemia; Myelodysplasia-related changes

MeSH Terms

Aged, 80 and over
Blood Cells/pathology
Chromosomes, Human, Pair 21
Chromosomes, Human, Pair 3
Female
Humans
Karyotyping
Leukemia, Myeloid, Acute/complications/*diagnosis/genetics
Multiplex Polymerase Chain Reaction
Myelodysplastic Syndromes/complications/*diagnosis/genetics
Oncogene Proteins, Fusion/*genetics
Sequence Analysis, DNA
*Translocation, Genetic

Figure

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  Fig. 1 Findings of the peripheral blood (PB) smears. The PB smear shows leukemic blasts and a few normoblasts (2 vertical arrows), consistent with a leukoerythroblastic feature. Blasts have high nuclear cytoplasmic ratio, basophilic cytoplasm and fine chromatin pattern (2 horizontal arrows). Dysplastic features were also found in PB, such as marked anisopoikilocytosis with teardrop cells (oblique arrow) in red blood cells and the Pelger-Huët anomaly in segmented neutrophils (dotted arrow).

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  Fig. 2 Giemsa-banded karyogram of the peripheral blood cells at diagnosis: 46,XX,t(3;21)(q26;q22). The arrows denote the abnormal chromosomes.

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  Fig. 3 FISH analyses performed at diagnosis. (A) EVI1 break apart probe (MetaSystems) displayed one split-out signal with one fusion signal in 91.5% of analyzed cells (194/212), consistent with EVI1 gene rearrangement. (B) AML1/ETO FISH probe (Abbott Molecular/Vysis) showed nuc ish(ETOx2)(AML1x3)[187/216] (86.6%).

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  Fig. 4 Multiplex reverse transcriptase-PCR (RT-PCR) and sequencing analyses. RT-PCR with the Hemavision kit (DNA Technology) showed 3 different sized bands, each, in lanes 4, 7, and 8. Subsequent sequencing analyses revealed breakpoints of (A) RUNX1-MECOM, (B) RUNX1-RPL22, and (C) RUNX1-MECOM fusion transcripts, respectively.

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