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DEK-NUP214-Fusion Identified by RNA-Sequencing of an Acute Myeloid Leukemia with t(9;12)(q34;q15).

ABSTRACT:

Background/aim

Given the diagnostic, prognostic, biologic, and even therapeutic impact of leukemia-associated translocations and fusion genes, it is important to detect cryptic genomic rearrangements that may exist in hematological malignancies.

Case report

RNA-sequencing was performed on an acute myeloid leukemia case with the bone marrow karyotype 45,X,-Y,t(9;12) (q34;q15)[16].

Results

The DEK-NUP214 and PRRC2B-DEK fusion genes were found. Reverse transcriptase polymerase chain reaction together with direct sequencing verified the presence of both. Fluorescence in situ hybridization showed that the DEK-NUP214 fusion gene was located on the 6p22 band of a seemingly normal chromosome 6.

Conclusion

RNA-sequencing proved to be a valuable tool for the detection of a fusion of genes DEK and NUP214 in a leukemia that showed cryptic cytogenetic rearrangement of chromosome band 9q34.

SUBMITTER: Panagopoulos I

PROVIDER: S-EPMC6070322 | biostudies-literature | 2017 Nov-Dec

REPOSITORIES: biostudies-literature

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<i>DEK-NUP214</i>-Fusion Identified by RNA-Sequencing of an Acute Myeloid Leukemia with t(9;12)(q34;q15).

Panagopoulos Ioannis I Gorunova Ludmila L Torkildsen Synne S Tjønnfjord Geir E GE Micci Francesca F Heim Sverre S

Cancer genomics & proteomics 20171101 6

<h4>Background/aim</h4>Given the diagnostic, prognostic, biologic, and even therapeutic impact of leukemia-associated translocations and fusion genes, it is important to detect cryptic genomic rearrangements that may exist in hematological malignancies.<h4>Case report</h4>RNA-sequencing was performed on an acute myeloid leukemia case with the bone marrow karyotype 45,X,-Y,t(9;12) (q34;q15)[16].<h4>Results</h4>The DEK-NUP214 and PRRC2B-DEK fusion genes were found. Reverse transcriptase polymerase ...[more]

PMID: 29109093

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