New variant of acute promyelocytic leukemia with IRF2BP2–RARA fusion

We present an acute promyelocytic leukemia (APL) patient with two subtypes of IRF2BP2–RARA, in which the IRF2BP2 gene showed completely new breakpoints. Bone marrow examination revealed morphologic features indicative of APL. However, promyelocytic leukemia–RARA fusion was not detected. A paired‐end...

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Detalles Bibliográficos
Autores principales: Shimomura, Yoshimitsu, Mitsui, Hideki, Yamashita, Yukiko, Kamae, Tsuyoshi, Kanai, Akinori, Matsui, Hirotaka, Ishibashi, Tomohiko, Tanimura, Akira, Shibayama, Hirohiko, Oritani, Kenji, Kuyama, Jun, Kanakura, Yuzuru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4982591/
https://www.ncbi.nlm.nih.gov/pubmed/27193600
http://dx.doi.org/10.1111/cas.12970
Descripción
Sumario:We present an acute promyelocytic leukemia (APL) patient with two subtypes of IRF2BP2–RARA, in which the IRF2BP2 gene showed completely new breakpoints. Bone marrow examination revealed morphologic features indicative of APL. However, promyelocytic leukemia–RARA fusion was not detected. A paired‐end mRNA sequencing followed by RT‐PCR and direct sequencing revealed two types of fusion transcripts between exon 1B of IRF2BP2 and exon 3 of RARA. The patient received all‐trans retinoic acid and conventional chemotherapy, but showed resistance. This is the second report of IRF2BP2 involvement in APL, and we describe various breakpoints for the IRF2BP2–RARA fusion gene.

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