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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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
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author Shimomura, Yoshimitsu
Mitsui, Hideki
Yamashita, Yukiko
Kamae, Tsuyoshi
Kanai, Akinori
Matsui, Hirotaka
Ishibashi, Tomohiko
Tanimura, Akira
Shibayama, Hirohiko
Oritani, Kenji
Kuyama, Jun
Kanakura, Yuzuru
author_facet Shimomura, Yoshimitsu
Mitsui, Hideki
Yamashita, Yukiko
Kamae, Tsuyoshi
Kanai, Akinori
Matsui, Hirotaka
Ishibashi, Tomohiko
Tanimura, Akira
Shibayama, Hirohiko
Oritani, Kenji
Kuyama, Jun
Kanakura, Yuzuru
author_sort Shimomura, Yoshimitsu
collection PubMed
description 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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spelling pubmed-49825912016-08-19 New variant of acute promyelocytic leukemia with IRF2BP2–RARA fusion Shimomura, Yoshimitsu Mitsui, Hideki Yamashita, Yukiko Kamae, Tsuyoshi Kanai, Akinori Matsui, Hirotaka Ishibashi, Tomohiko Tanimura, Akira Shibayama, Hirohiko Oritani, Kenji Kuyama, Jun Kanakura, Yuzuru Cancer Sci Case Report 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. John Wiley and Sons Inc. 2016-08-12 2016-08 /pmc/articles/PMC4982591/ /pubmed/27193600 http://dx.doi.org/10.1111/cas.12970 Text en © 2016 The Authors. Cancer Science published by John Wiley & Sons Australia, Ltd on behalf of Japanese Cancer Association. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Shimomura, Yoshimitsu
Mitsui, Hideki
Yamashita, Yukiko
Kamae, Tsuyoshi
Kanai, Akinori
Matsui, Hirotaka
Ishibashi, Tomohiko
Tanimura, Akira
Shibayama, Hirohiko
Oritani, Kenji
Kuyama, Jun
Kanakura, Yuzuru
New variant of acute promyelocytic leukemia with IRF2BP2–RARA fusion
title New variant of acute promyelocytic leukemia with IRF2BP2–RARA fusion
title_full New variant of acute promyelocytic leukemia with IRF2BP2–RARA fusion
title_fullStr New variant of acute promyelocytic leukemia with IRF2BP2–RARA fusion
title_full_unstemmed New variant of acute promyelocytic leukemia with IRF2BP2–RARA fusion
title_short New variant of acute promyelocytic leukemia with IRF2BP2–RARA fusion
title_sort new variant of acute promyelocytic leukemia with irf2bp2–rara fusion
topic Case Report
url 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
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