Molecular profiling: a case of zbtb16-rara acute promyelocytic leukemia
Langabeer, Stephen E. Preston, Lisa Kelly, Johanna Goodyer, Matt Elhassadi, Ezzat Hayat, Amjad
Langabeer, Stephen E.
Preston, Lisa
Kelly, Johanna
Goodyer, Matt
Elhassadi, Ezzat
Hayat, Amjad
Publication Date
2017-01-01
Type
Article
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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 ,
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.
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Hindawi Limited
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Attribution-NonCommercial-NoDerivs 3.0 Ireland