NUP214 fusion genes in acute leukemias: genetic characterization of rare cases
IntroductionAlterations of the NUP214 gene (9q34) are recurrent in acute leukemias. Rearrangements of chromosomal band 9q34 targeting this locus can be karyotypically distinct, for example t(6;9)(p22;q34)/DEK::NUP214, or cryptic, in which case no visible change of 9q34 is seen by chromosome banding....
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2024-03-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2024.1371980/full |
| _version_ | 1797256483972317184 |
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| author | Marta Brunetti Kristin Andersen Signe Spetalen Signe Spetalen Andrea Lenartova Liv Toril Nygård Osnes Helen Vålerhaugen Sverre Heim Francesca Micci |
| author_facet | Marta Brunetti Kristin Andersen Signe Spetalen Signe Spetalen Andrea Lenartova Liv Toril Nygård Osnes Helen Vålerhaugen Sverre Heim Francesca Micci |
| author_sort | Marta Brunetti |
| collection | DOAJ |
| description | IntroductionAlterations of the NUP214 gene (9q34) are recurrent in acute leukemias. Rearrangements of chromosomal band 9q34 targeting this locus can be karyotypically distinct, for example t(6;9)(p22;q34)/DEK::NUP214, or cryptic, in which case no visible change of 9q34 is seen by chromosome banding.MethodsWe examined 9 cases of acute leukemia with NUP214 rearrangement by array Comparative Genomic Hybridization (aCGH), reverse-transcription polymerase chain reaction (RT-PCR), and cycle sequencing/Sanger sequencing to detect which fusion genes had been generated.ResultsThe chimeras DEK::NUP214, SET::NUP214, and NUP214::ABL1 were found, only the first of which can be readily detected by karyotyping.DiscussionThe identification of a specific NUP214 rearrangement is fundamental in the management of these patients, i.e., AMLs with DEK::NUP214 are classified as an adverse risk group and might be considered for allogenic transplant. Genome- and/or transcriptome-based next generation sequencing (NGS) techniques can be used to screen for these fusions, but we hereby present an alternative, step-wise procedure to detect these rearrangements. |
| first_indexed | 2024-04-24T22:22:28Z |
| format | Article |
| id | doaj.art-6e54dab0855646e29369ccaf4222b21f |
| institution | Directory Open Access Journal |
| issn | 2234-943X |
| language | English |
| last_indexed | 2024-04-24T22:22:28Z |
| publishDate | 2024-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj.art-6e54dab0855646e29369ccaf4222b21f2024-03-20T05:02:45ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2024-03-011410.3389/fonc.2024.13719801371980NUP214 fusion genes in acute leukemias: genetic characterization of rare casesMarta Brunetti0Kristin Andersen1Signe Spetalen2Signe Spetalen3Andrea Lenartova4Liv Toril Nygård Osnes5Helen Vålerhaugen6Sverre Heim7Francesca Micci8Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, NorwaySection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, NorwayDepartment of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, NorwayInstitute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, NorwayDepartment of Haematology, Oslo University Hospital, Oslo, NorwayDepartment of Immunology, Oslo University Hospital, Oslo, NorwayDepartment of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, NorwaySection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, NorwaySection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, NorwayIntroductionAlterations of the NUP214 gene (9q34) are recurrent in acute leukemias. Rearrangements of chromosomal band 9q34 targeting this locus can be karyotypically distinct, for example t(6;9)(p22;q34)/DEK::NUP214, or cryptic, in which case no visible change of 9q34 is seen by chromosome banding.MethodsWe examined 9 cases of acute leukemia with NUP214 rearrangement by array Comparative Genomic Hybridization (aCGH), reverse-transcription polymerase chain reaction (RT-PCR), and cycle sequencing/Sanger sequencing to detect which fusion genes had been generated.ResultsThe chimeras DEK::NUP214, SET::NUP214, and NUP214::ABL1 were found, only the first of which can be readily detected by karyotyping.DiscussionThe identification of a specific NUP214 rearrangement is fundamental in the management of these patients, i.e., AMLs with DEK::NUP214 are classified as an adverse risk group and might be considered for allogenic transplant. Genome- and/or transcriptome-based next generation sequencing (NGS) techniques can be used to screen for these fusions, but we hereby present an alternative, step-wise procedure to detect these rearrangements.https://www.frontiersin.org/articles/10.3389/fonc.2024.1371980/fullacute leukemiasrare leukemiascytogenetics9q34-NUP214fluorescence in situ hybridizationarray comparative genomic hybridization |
| spellingShingle | Marta Brunetti Kristin Andersen Signe Spetalen Signe Spetalen Andrea Lenartova Liv Toril Nygård Osnes Helen Vålerhaugen Sverre Heim Francesca Micci NUP214 fusion genes in acute leukemias: genetic characterization of rare cases Frontiers in Oncology acute leukemias rare leukemias cytogenetics 9q34-NUP214 fluorescence in situ hybridization array comparative genomic hybridization |
| title | NUP214 fusion genes in acute leukemias: genetic characterization of rare cases |
| title_full | NUP214 fusion genes in acute leukemias: genetic characterization of rare cases |
| title_fullStr | NUP214 fusion genes in acute leukemias: genetic characterization of rare cases |
| title_full_unstemmed | NUP214 fusion genes in acute leukemias: genetic characterization of rare cases |
| title_short | NUP214 fusion genes in acute leukemias: genetic characterization of rare cases |
| title_sort | nup214 fusion genes in acute leukemias genetic characterization of rare cases |
| topic | acute leukemias rare leukemias cytogenetics 9q34-NUP214 fluorescence in situ hybridization array comparative genomic hybridization |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2024.1371980/full |
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