Multiple - Fusion Transcripts in a Myeloproliferative Neoplasm Patient with T(5;17)(q32;q11)

Overview

Journal Mol Cytogenet

Publisher Biomed Central

Specialty Biochemistry

Date 2017 Mar 7

PMID 28261327

Citations 5

Authors

Guangying Sheng

Zhao Zeng

Jinlan Pan

Linbing Kou

Qinrong Wang

Hong Yao

Lijun Wen

Liang Ma

Depei Wu

Huiying Qiu

Suning Chen

Affiliations

Soon will be listed here.

Abstract

Background: Myeloproliferative neoplasms (MPNs), typically defined by myeloid proliferation and eosinophilia, and are only rarely caused by platelet-derived growth factor receptor beta (PDGFRB) gene rearrangements.

Case Presentation: Here, we report a unique case of MPN that is negative for eosinophilia and characterized by a novel rearrangement. After cytogenetic analysis revealed a karyotype of t(5;17) (q32;q11), we used fluorescence hybridization to specifically identify the gene at 5q31-q33 as the gene that had been translocated. Subsequently, RNA sequencing identified a new - gene fusion. This fusion presented a previously undescribed breakpoint composed of exon 37 of and exon 13 of . Furthermore, both RT-PCR and Bi-directional Sanger sequencing confirmed this out-of-frame fusion. Interestingly, we simultaneously identified the presence of another three transcripts, all of which were in-frame fusions. After treating the patient with imatinib, the t(5;17) translocation was no longer detected by conventional cytogenetics or by FISH, and at the time of the last follow-up, the patient had been in complete remission for 26 months.

Conclusion: We prove that - fusions are recurrent genetic aberrations involved in MPNs, and identify multiple fusion transcripts with novel breakpoints.

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