A variant form of myelodysplastic syndrome with Ph- minor-BCR/ABL transcript.
This study concerns a patient with minor (m)-BCR/ABL transcript-positive and Philadelphia (Ph) chromosome-negative myelodysplastic syndrome (MDS). The patient was a 78-year-old man whose condition was diagnosed as refractory anemia with excess of blasts in transformation. Molecular genetic studies, using reverse transcriptase polymerase chain reaction analysis detected m-BCR/ABL messenger RNA. We used spectral karyotyping to analyze metaphase cells but could not detect a Ph chromosome. Fluorescence in situ hybridization, however, revealed fusion signals of BCR and ABL probes on an apparently normal chromosome 22.
Wakayama
T
T
Department of Hematology and Oncology, Shimane Prefectural Central Hospital, Izumo, Japan. wakayama@spch.izumo.shimane.jp
Maniwa
Y
Y
Ago
H
H
Kakazu
N
N
Abe
T
T
D000368:Aged; D000754:Anemia, Refractory, with Excess of Blasts / Q000097:blood / Q000145:classification* / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D001853:Bone Marrow / Q000473:pathology; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics / Q000648:ultrastructure; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D017809:Fatal Outcome; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D012333:RNA, Messenger / Q000235:genetics / Q000302:isolation & purification; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic
D012333:RNA, Messenger; D016044:Fusion Proteins, bcr-abl