Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2012 Sep;32(5):362-5.
doi: 10.3343/alm.2012.32.5.362. Epub 2012 Aug 13.

Detection of RUNX1-MECOM fusion gene and t(3;21) in a very elderly patient having acute myeloid leukemia with myelodysplasia-related changes

John Jeongseok Yang  1 , Sun Young Cho, Jin-Tae Suh, Hee Joo Lee, Woo-In Lee, Hwi-Joong Yoon, Sun Kyung Baek, Tae Sung Park
Affiliations
Case Reports

Detection of RUNX1-MECOM fusion gene and t(3;21) in a very elderly patient having acute myeloid leukemia with myelodysplasia-related changes

John Jeongseok Yang et al. Ann Lab Med. 2012 Sep.

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 27 × 10(9)/L, and white blood cell counts of 85.33 × 10(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.

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

PubMed Disclaimer

Conflict of interest statement

No potential conflicts of interest relevant to this article were reported.

Figures

Fig. 1
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).
Fig. 2
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.
Fig. 3
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%).
Fig. 4
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.
See this image and copyright information in PMC

References

    1. Jaffe ES, Harris NL, et al., editors. World Health Organization classification of tumours. Pathology and genetics: Tumours of haematopoietic and lymphoid tissues. Lyon, France: IARC Press; 2008.
    1. Miyazaki Y, Kuriyama K, Miyawaki S, Ohtake S, Sakamaki H, Matsuo T, et al. Cytogenetic heterogeneity of acute myeloid leukaemia (AML) with trilineage dysplasia: Japan Adult Leukaemia Study Group-AML 92 study. Br J Haematol. 2003;120:56–62. - PubMed
    1. Yanada M, Suzuki M, Kawashima K, Kiyoi H, Kinoshita T, Emi N, et al. Long-term outcomes for unselected patients with acute myeloid leukemia categorized according to the World Health Organization classification: a single-center experience. Eur J Haematol. 2005;74:418–423. - PubMed
    1. Lim G, Choi JR, Kim MJ, Kim SY, Lee HJ, Suh JT, et al. Detection of t(3;5) and NPM1/MLF1 rearrangement in an elderly patient with acute myeloid leukemia: clinical and laboratory study with review of the literature. Cancer Genet Cytogenet. 2010;199:101–109. - PubMed
    1. Lim G, Kim MJ, Oh SH, Cho SY, Lee HJ, Suh JT, et al. Acute myeloid leukemia associated with t(1;3)(p36;q21) and extreme thrombocytosis: a clinical study with literature review. Cancer Genet Cytogenet. 2010;203:187–192. - PubMed

Publication types

MeSH terms

Substances

LinkOut - more resources