New variant of acute promyelocytic leukemia with IRF2BP2–RARA fusion

نویسندگان

  • Yoshimitsu Shimomura
  • Hideki Mitsui
  • Yukiko Yamashita
  • Tsuyoshi Kamae
  • Akinori Kanai
  • Hirotaka Matsui
  • Tomohiko Ishibashi
  • Akira Tanimura
  • Hirohiko Shibayama
  • Kenji Oritani
  • Jun Kuyama
  • Yuzuru Kanakura
چکیده

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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عنوان ژورنال:

دوره 107  شماره 

صفحات  -

تاریخ انتشار 2016