title: Acquisition of a BCR-ABL1 transcript in a patient with disease progression from MDS with fibrosis to AML with myelodysplasia-related changes.
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.
authors.affiliation: Department of Laboratory Medicine, Ajou University School of Medicine, San 5, Wonchon-dong, Yeongtong-gu, Suwon 443-721, Korea.
authors.forename: Seo-Jin
authors.initials: SJ
authors.lastname: Park
authors.forename: Hyun Woo
authors.initials: HW
authors.lastname: Lee
authors.forename: Seong Hyun
authors.initials: SH
authors.lastname: Jeong
authors.forename: Joon Seong
authors.initials: JS
authors.lastname: Park
authors.forename: Hugh Chul
authors.initials: HC
authors.lastname: Kim
authors.forename: Jae Yeon
authors.initials: JY
authors.lastname: Seok
authors.forename: Hyon J
authors.initials: HJ
authors.lastname: Kim
authors.forename: Sung Ran
authors.initials: SR
authors.lastname: Cho
mesh_terms: D000368:Aged; D018450:Disease Progression; D017809:Fatal Outcome; D005355:Fibrosis; D016044:Fusion Proteins, bcr-abl / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000473:pathology*; D008297:Male; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism
chemical_list: D012333:RNA, Messenger; C406060:abl-bcr fusion protein, human; D016044:Fusion Proteins, bcr-abl