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- Title
Multiple MYO18A-PDGFRB fusion transcripts in a myeloproliferative neoplasm patient with t(5;17)(q32;q11).
- Authors
Guangying Sheng; Zhao Zeng; Jinlan Pan; Linbing Kou; Qinrong Wang; Hong Yao; Lijun Wen; Liang Ma; Depei Wu; Huiying Qiu; Suning Chen
- 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 PDGFRB rearrangement. After cytogenetic analysis revealed a karyotype of t(5;17) (q32;q11), we used fluorescence in situ hybridization to specifically identify the PDGFRB gene at 5q31-q33 as the gene that had been translocated. Subsequently, RNA sequencing identified a new MYO18A-PDGFRB gene fusion. This fusion presented a previously undescribed breakpoint composed of exon 37 of MYO18A and exon 13 of PDGFRB. Furthermore, both RT-PCR and Bi-directional Sanger sequencing confirmed this out-of-frame fusion. Interestingly, we simultaneously identified the presence of another three PDGFRB 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 MYO18A-PDGFRB fusions are recurrent genetic aberrations involved in MPNs, and identify multiple fusion transcripts with novel breakpoints.
- Subjects
HEMATOLOGIC malignancies; BLOOD diseases; EOSINOPHILIA; PLATELET-derived growth factor; NUCLEOTIDE sequence; CYTOGENETICS
- Publication
Molecular Cytogenetics (17558166), 2017, Vol 10, p1
- ISSN
1755-8166
- Publication type
Case Study
- DOI
10.1186/s13039-017-0306-8