TY - JOUR
T1 - A cryptic NUP214-ABL1 fusion in B-cell precursor acute lymphoblastic leukemia
AU - Tsujimoto, Shin Ichi
AU - Nakano, Yoshiko
AU - Osumi, Tomoo
AU - Okada, Keiko
AU - Ouchi-Uchiyama, Meri
AU - Kataoka, Keisuke
AU - Fujii, Yoichi
AU - Ohki, Kentaro
AU - Seki, Masafumi
AU - Tamagawa, Nobuyoshi
AU - Takita, Junko
AU - Ogawa, Seishi
AU - Kiyokawa, Nobutaka
AU - Hara, Junichi
AU - Kato, Motohiro
N1 - Funding Information:
Supported in part by the Japan Society for the Promotion of Science (JSPS) through Grants-in-Aid for Scientific Research (KAKENHI), grant number 26713037, and by a grant from the Takeda Science Foundation.
Publisher Copyright:
© 2018 Wolters Kluwer Health, Inc. All rights reserved.
PY - 2018/8/1
Y1 - 2018/8/1
N2 - Fluorescent in situ hybridization (FISH) analysis is the standard methods for screening ABL1 fusions, which is recurrently translocated in pediatric acute lymphoblastic leukemia (ALL), and potentially targetable by kinase inhibitors. Here we demonstrated a case of B-cell precursor ALL with NUP214-ABL1 fusion, which break-apart FISH assay for ABL1 failed to detect. The cryptic fusion was generated by small duplication from ABL1 to NUP214, which was detected by copy number analysis using genomic microarray and confirmed by PCR. In the context of precision medicine, we should establish how to screen targetable abnormalities for minimizing risk of false-negative.
AB - Fluorescent in situ hybridization (FISH) analysis is the standard methods for screening ABL1 fusions, which is recurrently translocated in pediatric acute lymphoblastic leukemia (ALL), and potentially targetable by kinase inhibitors. Here we demonstrated a case of B-cell precursor ALL with NUP214-ABL1 fusion, which break-apart FISH assay for ABL1 failed to detect. The cryptic fusion was generated by small duplication from ABL1 to NUP214, which was detected by copy number analysis using genomic microarray and confirmed by PCR. In the context of precision medicine, we should establish how to screen targetable abnormalities for minimizing risk of false-negative.
KW - ABL1 class fusions
KW - BCP-ALL
KW - FISH
KW - NUP214-ABL1
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U2 - 10.1097/MPH.0000000000001007
DO - 10.1097/MPH.0000000000001007
M3 - Article
C2 - 29219890
AN - SCOPUS:85050963767
VL - 40
SP - e397-e399
JO - Journal of Pediatric Hematology/Oncology
JF - Journal of Pediatric Hematology/Oncology
SN - 1077-4114
IS - 6
ER -