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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

 Seo-Jin Park  ;  Hyun Woo Lee  ;  Sung Ran Cho  ;  Hyon J. Kim  ;  Jae Yeon Seok  ;  Hugh Chul Kim  ;  Joon Seong Park  ;  Seong Hyun Jeong 
 Annals of Clinical and Laboratory Science, Vol.41(4) : 379-384, 2011 
Journal Title
 Annals of Clinical and Laboratory Science 
Issue Date
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.
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1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실)
Yonsei Authors
박서진(Park, Seo Jin)
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