dc.contributor.author | Langabeer, Stephen E. | |
dc.contributor.author | Preston, Lisa | |
dc.contributor.author | Kelly, Johanna | |
dc.contributor.author | Goodyer, Matt | |
dc.contributor.author | Elhassadi, Ezzat | |
dc.contributor.author | Hayat, Amjad | |
dc.date.accessioned | 2018-09-20T16:14:00Z | |
dc.date.available | 2018-09-20T16:14:00Z | |
dc.date.issued | 2017-01-01 | |
dc.identifier.citation | Langabeer, Stephen E. Preston, Lisa; Kelly, Johanna; Goodyer, Matt; Elhassadi, Ezzat; Hayat, Amjad (2017). Molecular profiling: a case of zbtb16-rara acute promyelocytic leukemia. Case Reports in Hematology , | |
dc.identifier.issn | 2090-6560,2090-6579 | |
dc.identifier.uri | http://hdl.handle.net/10379/12375 | |
dc.description.abstract | 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 inmyeloid 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. | |
dc.publisher | Hindawi Limited | |
dc.relation.ispartof | Case Reports in Hematology | |
dc.rights | Attribution-NonCommercial-NoDerivs 3.0 Ireland | |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/3.0/ie/ | |
dc.subject | acute myeloid-leukemia | |
dc.subject | trans-retinoic acid | |
dc.subject | complete remission | |
dc.subject | c/ebp-alpha | |
dc.subject | mutations | |
dc.subject | disease | |
dc.subject | rearrangements | |
dc.subject | patient | |
dc.subject | genes | |
dc.subject | cells | |
dc.title | Molecular profiling: a case of zbtb16-rara acute promyelocytic leukemia | |
dc.type | Article | |
dc.identifier.doi | 10.1155/2017/7657393 | |
dc.local.publishedsource | http://doi.org/10.1155/2017/7657393 | |
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