The First Korean Case of NUP98-NSD1 and a Novel SNRK-ETV6 Fusion in a Pediatric Therapy-related Acute Myeloid Leukemia Patient Detected by Targeted RNA Sequencing.
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ABSTRACT:
SUBMITTER: Lim HJ
PROVIDER: S-EPMC7884187 | biostudies-literature | 2021 Jul
REPOSITORIES: biostudies-literature
Publications
The First Korean Case of <i>NUP98-NSD1</i> and a Novel <i>SNRK-ETV6</i> Fusion in a Pediatric Therapy-related Acute Myeloid Leukemia Patient Detected by Targeted RNA Sequencing.
Lim Ha Jin HJ Lee Jun Hyung JH Lee Young Eun YE Baek Hee-Jo HJ Kook Hoon H Park Ju Heon JH Lee Seung Yeob SY Choi Hyun-Woo HW Choi Hyun-Jung HJ Kee Seung-Jung SJ Shin Jong Hee JH Shin Myung Geun MG
Annals of laboratory medicine 20210701 4
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Project description:BACKGROUND: Characterization of novel fusion genes in acute leukemia is important for gaining information about leukemia genesis. We describe the characterization of a new ETV6 fusion gene in acute myeloid leukemia (AML) FAB M0 as a result of an uncommon translocation involving chromosomes 12 and 15. METHODS: The ETV6 locus at 12p13 was shown to be translocated and to constitute the 5' end of the fusion product by ETV6 break apart fluorescence in situ hybridisation (FISH). To identify a fusion partner 3' rapid amplification of cDNA-ends with polymerase chain reaction (RACE PCR) was performed followed by cloning and sequencing. RESULTS: The NTRK3 gene on chromosome 15 was found to constitute the 3' end of the fusion gene and the underlying ETV6-NTRK3 rearrangement was verified by reverse transcriptase PCR. No RNA of the reciprocal NTRK3-ETV6 fusion gene could be detected. CONCLUSION: We have characterized a novel ETV6-NTRK3 fusion transcript which has not been previously described in AML FAB M0 by FISH and RACE PCR. ETV6-NTRK3 rearrangements have been described in secretory breast carcinoma and congenital fibrosarcoma.
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