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Acquisition of a BCR-ABL1 transcript in a patient with disease progression from MDS with fibrosis to AML with myelodysplasia-related changes

Authors
 Seo-Jin Park ; Hyun Woo Lee ; Sung Ran Cho ; Hyon J. Kim ; Jae Yeon Seok ; Hugh Chul Kim ; Joon Seong Park ; Seong Hyun Jeong 
Citation
 Annals of Clinical and Laboratory Science, Vol.41(4) : 379~384, 2011 
Journal Title
 Annals of Clinical and Laboratory Science 
ISSN
 0091-7370 
Issue Date
2011
Abstract
The 2008 WHO classification tentatively introduced myelodysplastic syndrome with fibrosis (MDS-F) based on previous literature of the existence of such cases. Most MDS-F cases have increased blasts, lower hemoglobin and platelet counts, an aggressive clinical course, and more frequently include cytogenetic aberrations. We report the case of a 66-year-old male patient diagnosed with refractory anemia with excess blasts-2 with fibrosis (MDS RAEB-2-F) with a normal karyotype and negative findings for both BCR-ABL1 transcript and JAK2 V617F mutations. He refused therapy upon his diagnosis and, after 5 months, his disease progressed to leukemia. The patient was diagnosed with acute myeloid leukemia with myelodysplasia-related changes (AML-MRC), based on a bone marrow exam revealing increased blasts (32.8%). Cytogenetic study revealed a complex karyotype, and molecular studies identified a minor BCRABL1 fusion transcript. The patient's general condition deteriorated despite the initiation of induction chemotherapy, and he died approximately 2 weeks after the diagnosis of AML-MRC. This patient's poor clinical outcome may have been exacerbated by the acquisition of the BCR-ABL1 fusion transcript overlapping with the aggressive nature of MDS-F.
URI
http://ir.ymlib.yonsei.ac.kr/handle/22282913/95169
Appears in Collections:
1. 연구논문 > 1. College of Medicine > Dept. of Laboratory Medicine
Yonsei Authors
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Link
 http://www.annclinlabsci.org/content/41/4/379.long
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