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Case Reports
. 2021 Nov 15;60(22):3609-3614.
doi: 10.2169/internalmedicine.7335-21. Epub 2021 May 29.

Acute Megakaryoblastic Leukemia Harboring a Subclone Expressing BCR-ABL1 Fusion Gene Product

Emiko Kashima  1 , Eri Nakano  1 , Yasuyuki Watanabe  1 , Hiroshi Imai  2 , Koji Oka  1 , Shinichi Kageyama  1 , Isao Tanaka  1
Affiliations
Case Reports

Acute Megakaryoblastic Leukemia Harboring a Subclone Expressing BCR-ABL1 Fusion Gene Product

Emiko Kashima et al. Intern Med. .

Abstract

Acute myeloid leukemia (AML) with BCR-ABL1, also termed Philadelphia chromosome-positive AML (Ph+ AML), is a rare leukemia subtype classified by the World Health Organization in 2016. The characteristics of Ph+ AML have not been fully identified yet. We herein report a patient with Ph+ AML who phenotypically exhibited megakaryoblastic characteristics, FAB:M7 and harbored a subclone expressing BCR-ABL1 gene fusion products. This case suggests that BCR-ABL1 was acquired as a subclone due to a secondary event that might have occurred late during leukemia evolution. Our findings may aid in deciphering the mechanism underlying Ph+ AML development in future studies.

Keywords: BCR-ABL1 fusion gene; Ph+ AML; acute megakaryoblastic leukemia.

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Conflict of interest statement

The authors state that they have no Conflict of Interest (COI).

Figures

Figure 1.
Figure 1.
(1) Peripheral blood smear findings using May-Giemsa stain at (A) 400, (B) 1,000 magnification, and (C) MPO at 1,000 magnification. (2) Histological findings of bone marrow biopsy using (A) HE, (B) CD34, (C) CD42b, (D) c-kit, and (E) silver impregnation staining at 400×magnification. HE: Hematoxylin and Eosin staining, MG: May-Giemsa staining, MPO: myeloperoxidase, SIM: silver impregnation method
Figure 2.
Figure 2.
Flow cytometry of peripheral blood at the diagnosis.
Figure 3.
Figure 3.
A chromosomal analysis (G-banding) of peripheral blood at the diagnosis (1) and bone marrow at the relapse (2).
Figure 4.
Figure 4.
A FISH analysis of the bone marrow biopsy sample. The white arrow indicates a native BCR gene and a native ABL1 gene in a nucleus. The green signal shows a native BCR gene, and the red one shows a native ABL1 gene. The yellow arrow indicates a fusion signal corresponding to a BCR-ABL1 gene. FISH: fluorescence in situ hybridization
Figure 5.
Figure 5.
Temporal changes in the expression of BCR-ABL1 and WT1 genes assessed through an RT-PCR analysis of bone marrow or peripheral blood. At the relapse, 39,000 copies of WT1 mRNA were detected, and the copy number of BCR-ABL1 gene was below the detection level. HCR: hematological complete remission, RT-PCR: real-time polymerase chain reaction
See this image and copyright information in PMC

References

    1. Neuendorff NR, Burmeister T, Dörken B, Westermann J. BCR-ABL-positive acute myeloid leukemia: a new entity? Analysis of clinical and molecular features. Ann Hematol 95: 1211-1221, 2016. - PubMed
    1. Soupir CP, Vergilio JA, Dal Cin P, et al. . Philadelphia chromosome-positive acute myeloid leukemia: a rare aggressive leukemia with clinicopathologic features distinct from chronic myeloid leukemia in myeloid blast crisis. Am J Clin Pathol 127: 642-650, 2007. - PubMed
    1. Arber DA, Orazi A, Hasserjian R, et al. . The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood 127: 2391-2405, 2016. - PubMed
    1. Shao X, Chen D, Xu P, et al. . Primary Philadelphia chromosome positive acute myeloid leukemia: a case report. Medicine 97: e12949, 2018. - PMC - PubMed
    1. Döhner H, Estey E, Grimwade D, et al. . Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel. Blood 129: 424-447, 2017. - PMC - PubMed

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