Molecular diagnosis of Philadelphia negative CML using the polymerase chain reaction and DNA analysis: clinical features and course of M-bcr negative and M-bcr positive CML.

摘要: The Philadelphia chromosome (Ph) is the cytogenetic hallmark of chronic myeloid leukemia (CML) and as such has been used to confirm diagnosis CML based on morphological clinical criteria. We have investigated 12 patients who were considered features did not detectable abnormalities chromosomes 9q34 or 22q11. In six patients, rearrangement within 5.8 kb major breakpoint region (M-bcr) amplification specific M-bcr-ABL cDNA sequences by polymerase chain reaction (PCR) was demonstrated. Six other M-bcr gene BCR-ABL PCR. These had atypical CML. They significantly older, most less than 10% immature granulocytic cells (metamyelocytes, myelocytes promyelocytes) various degrees marrow fibrosis. Three these died blastic transformation at 4, 15 54 months from diagnosis.