Rearrangement of PDGFRβ gene in a patient with Ph-negative chronic myeloid leukemia t(5;12)(q33;p13) in imatinib mesylate treatment-free remission: a case report

摘要

Chronic myeloid leukemia (CML) is a hematologic malignancy, in which more than 95% of CML patients are discovered with the Philadelphia chromosome (Ph) or BCR-ABL rearrangement. Those patients mainly suffer from CML, associating with lack of tyrosine kinase activity and BCR-ABL fusion gene. Here, we reported a patient with Ph-negative CML t(5;12)(q33;p13), accompanying with a rare genetic fusion between the TEL and PDGFRβ genes. We identified a novel TEL-PDGFRβ rearrangement, joining TEL (exon 12) to PDGFRβ (exon 5), resulting in overexpression of PDGFRβ. A promising result was achieved, in which TEL-PDGFRβ fusion gene could not be effectively detected during imatinib treatment, demonstrating complete molecular biologic remission. Thus, multiple tyrosine kinase inhibitors are associated with Ph-negative CML t(5;12)(q33;p13) with TEL-PDGFRβ rearrangement.