Molecular Profiling: A Case of ZBTB16-RARA Acute Promyelocytic Leukemia
Several variant RARA translocations have been reported in acute promyelocytic leukemia (APL) of which the t(11;17)(q23;q21), which results in a ZBTB16-RARA fusion, is the most widely identified and is largely resistant to therapy with all-trans retinoic acid (ATRA). The clinical course together with...
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Case Reports in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2017/7657393 |
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| author | Stephen E. Langabeer Lisa Preston Johanna Kelly Matt Goodyer Ezzat Elhassadi Amjad Hayat |
| author_facet | Stephen E. Langabeer Lisa Preston Johanna Kelly Matt Goodyer Ezzat Elhassadi Amjad Hayat |
| author_sort | Stephen E. Langabeer |
| collection | DOAJ |
| description | Several variant RARA translocations have been reported in acute promyelocytic leukemia (APL) of which the t(11;17)(q23;q21), which results in a ZBTB16-RARA fusion, is the most widely identified and is largely resistant to therapy with all-trans retinoic acid (ATRA). The clinical course together with the cytogenetic and molecular characterization of a case of ATRA-unresponsive ZBTB16-RARA APL is described. Additional mutations potentially cooperating with the translocation fusion product in leukemogenesis have been hitherto unreported in ZBTB16-RARA APL and were sought by application of a next-generation sequencing approach to detect those recurrently found in myeloid malignancies. This technique identified a solitary, low level mutation in the CEBPA gene. Molecular profiling of additional mutations may provide a platform to individualise therapeutic management in patients with this rare form of APL. |
| format | Article |
| id | doaj-art-27d507d83f304c85bf7446dc4013d132 |
| institution | Kabale University |
| issn | 2090-6560 2090-6579 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Hematology |
| spelling | doaj-art-27d507d83f304c85bf7446dc4013d1322025-02-03T00:59:32ZengWileyCase Reports in Hematology2090-65602090-65792017-01-01201710.1155/2017/76573937657393Molecular Profiling: A Case of ZBTB16-RARA Acute Promyelocytic LeukemiaStephen E. Langabeer0Lisa Preston1Johanna Kelly2Matt Goodyer3Ezzat Elhassadi4Amjad Hayat5Cancer Molecular Diagnostics, St. James’s Hospital, Dublin 8, IrelandCancer Molecular Diagnostics, St. James’s Hospital, Dublin 8, IrelandDepartment of Clinical Genetics, Our Lady’s Children Hospital, Dublin 12, IrelandDepartment of Haematology, Galway University Hospital, Galway, IrelandDepartment of Haematology, Galway University Hospital, Galway, IrelandDepartment of Haematology, Galway University Hospital, Galway, IrelandSeveral variant RARA translocations have been reported in acute promyelocytic leukemia (APL) of which the t(11;17)(q23;q21), which results in a ZBTB16-RARA fusion, is the most widely identified and is largely resistant to therapy with all-trans retinoic acid (ATRA). The clinical course together with the cytogenetic and molecular characterization of a case of ATRA-unresponsive ZBTB16-RARA APL is described. Additional mutations potentially cooperating with the translocation fusion product in leukemogenesis have been hitherto unreported in ZBTB16-RARA APL and were sought by application of a next-generation sequencing approach to detect those recurrently found in myeloid malignancies. This technique identified a solitary, low level mutation in the CEBPA gene. Molecular profiling of additional mutations may provide a platform to individualise therapeutic management in patients with this rare form of APL.http://dx.doi.org/10.1155/2017/7657393 |
| spellingShingle | Stephen E. Langabeer Lisa Preston Johanna Kelly Matt Goodyer Ezzat Elhassadi Amjad Hayat Molecular Profiling: A Case of ZBTB16-RARA Acute Promyelocytic Leukemia Case Reports in Hematology |
| title | Molecular Profiling: A Case of ZBTB16-RARA Acute Promyelocytic Leukemia |
| title_full | Molecular Profiling: A Case of ZBTB16-RARA Acute Promyelocytic Leukemia |
| title_fullStr | Molecular Profiling: A Case of ZBTB16-RARA Acute Promyelocytic Leukemia |
| title_full_unstemmed | Molecular Profiling: A Case of ZBTB16-RARA Acute Promyelocytic Leukemia |
| title_short | Molecular Profiling: A Case of ZBTB16-RARA Acute Promyelocytic Leukemia |
| title_sort | molecular profiling a case of zbtb16 rara acute promyelocytic leukemia |
| url | http://dx.doi.org/10.1155/2017/7657393 |
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