Poor responses to tyrosine kinase inhibitors in a child with precursor B-cell acute lymphoblastic leukemia with SNX2-ABL1 chimeric transcript

被引:22
作者
Masuzawa, Aki [1 ]
Kiyotani, Chikako [1 ]
Osumi, Tomoo [1 ]
Shioda, Yoko [1 ]
Iijima, Kazutoshi [2 ,3 ]
Tomita, Osamu [2 ]
Nakabayashi, Kazuhiko [4 ]
Oboki, Keisuke [5 ]
Yasuda, Kazuki [6 ]
Sakamoto, Hiromi [7 ]
Ichikawa, Hitoshi [7 ]
Hata, Kenichiro [4 ]
Yoshida, Teruhiko [7 ]
Matsumoto, Kenji [5 ]
Kiyokawa, Nobutaka [2 ]
Mori, Tetsuya [1 ]
机构
[1] Natl Ctr Child Hlth & Dev, Div Pediat Oncol, Setagaya Ku, Tokyo, Japan
[2] Natl Res Inst Child Hlth & Dev, Dept Pediat Hematol & Oncol Res, Setagaya Ku, Tokyo 1578535, Japan
[3] Tokyo Univ Sci, Fac Engn, Dept Ind Chem, Shinjuku Ku, Tokyo 162, Japan
[4] Natl Res Inst Child Hlth & Dev, Dept Maternal Fetal Biol, Setagaya Ku, Tokyo 1578535, Japan
[5] Natl Res Inst Child Hlth & Dev, Dept Allergy & Immunol, Setagaya Ku, Tokyo 1578535, Japan
[6] Natl Ctr Global Hlth & Med, Dept Metab Disorder, Diabet Res Ctr, Shinjuku Ku, Tokyo, Japan
[7] Natl Canc Ctr, Res Inst, Div Genet, Chuo Ku, Tokyo 104, Japan
关键词
SNX2-ABL1; precursor B-cell acute lymphoblastic leukemia; tyrosine kinase inhibitors; imatinib; dasatinib; FUSION; ABL1; IDENTIFICATION; GENE;
D O I
10.1111/ejh.12234
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
In addition to BCR, various rare fusion partners for the ABL1 gene have been reported in leukemia. We have identified the fusion gene SNX2-ABL1 in a pediatric case of acute lymphoblastic leukemia (ALL), which has only once previously been reported in an adult patient. Cytogenetic analysis detected this fusion gene arising from a t(5;9)(q22;q34) translocation. ALL cells carrying a SNX2-ABL1 fusion exhibited a BCR-ABL1+ ALL-like gene expression profile. The patient poorly responded to dasatinib but partially responded to imatinib. Treatment using tyrosine kinase inhibitors requires further investigation to optimize the genotype-based treatment stratification for patients with SNX2-ABL1 fusion.
引用
收藏
页码:263 / 267
页数:5
相关论文
共 20 条
[1]   Sorting nexins - Unifying trends and new perspectives [J].
Carlton, J ;
Bujny, M ;
Rutherford, A ;
Cullen, P .
TRAFFIC, 2005, 6 (02) :75-82
[2]   ABL1 fusion genes in hematological malignancies: a review [J].
De Braekeleer, Etienne ;
Douet-Guilbert, Nathalie ;
Rowe, David ;
Bown, Nick ;
Morel, Frederic ;
Berthou, Christian ;
Ferec, Claude ;
De Braekeleer, Marc .
EUROPEAN JOURNAL OF HAEMATOLOGY, 2011, 86 (05) :361-371
[3]   Fusion of EML1 to ABL1 in T-cell acute lymphoblastic leukemia with cryptic t(9;14)(q34;q32) [J].
De Keersmaecker, K ;
Graux, C ;
Odero, MD ;
Mentens, N ;
Somers, R ;
Maertens, J ;
Wlodarska, I ;
Vandenberghe, P ;
Hagemeijer, A ;
Marynen, P ;
Cools, J .
BLOOD, 2005, 105 (12) :4849-4852
[4]   Rapid complete cytogenetic remission after upfront dasatinib monotherapy in a patient with a NUP214-ABL1-positive T-cell acute lymphoblastic leukemia [J].
Deenik, W. ;
Beverloo, H. B. ;
van der Poel-van de Luytgaarde, S. C. P. A. M. ;
Wattel, M. M. ;
van Esser, J. W. J. ;
Valk, P. J. M. ;
Cornelissen, J. J. .
LEUKEMIA, 2009, 23 (03) :627-629
[5]   Identification of FOXP1 and SNX2 as novel ABL1 fusion partners in acute lymphoblastic leukaemia [J].
Ernst, Thomas ;
Score, Joannah ;
Deininger, Michael ;
Hidalgo-Curtis, Claire ;
Lackie, Peter ;
Ershler, William B. ;
Goldman, John M. ;
Cross, Nicholas C. P. ;
Grand, Francis H. .
BRITISH JOURNAL OF HAEMATOLOGY, 2011, 153 (01) :43-46
[6]   Episomal amplification of NUP214-ABL1 fusion gene in B-cell acute lymphoblastic leukemia [J].
Eyre, Toby ;
Schwab, Claire J. ;
Kinstrie, Ross ;
McGuire, Ann Keen ;
Strefford, Jen ;
Peniket, Andrew ;
Mead, Adam ;
Littlewood, Tim ;
Holyoake, Tessa L. ;
Copland, Mhairi ;
Moorman, Anthony V. ;
Harrison, Christine J. ;
Vyas, Paresh .
BLOOD, 2012, 120 (22) :4441-4443
[7]   Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia [J].
Graux, C ;
Cools, J ;
Melotte, C ;
Quentmeier, H ;
Ferrando, A ;
Levine, R ;
Vermeesch, JR ;
Stul, M ;
Dutta, B ;
Boeckx, N ;
Bosly, A ;
Heimann, P ;
Uyttebroeck, A ;
Mentens, N ;
Somers, R ;
MacLeod, RAF ;
Drexler, HG ;
Look, AT ;
Gilliland, DG ;
Michaux, L ;
Vandenberghe, P ;
Wlodarska, I ;
Marynen, P ;
Hagemeijer, A .
NATURE GENETICS, 2004, 36 (10) :1084-1089
[8]   Identification of a family of sorting nexin molecules and characterization of their association with receptors [J].
Haft, CR ;
Sierra, MD ;
Barr, VA ;
Haft, DH ;
Taylor, SI .
MOLECULAR AND CELLULAR BIOLOGY, 1998, 18 (12) :7278-7287
[9]   The t(1;9)(p34;q34) and t(8;12)(p11;q15) fuse pre-mRNA processing proteins SFPQ (PSF) and CPSF6 to ABL and FGFR1 [J].
Hidalgo-Curtis, Claire ;
Chase, Andrew ;
Drachenberg, Milton ;
Roberts, Mark W. ;
Finkelstein, Jerry Z. ;
Mould, Sarah ;
Oscier, David ;
Cross, Nicholas C. P. ;
Grand, Francis H. .
GENES CHROMOSOMES & CANCER, 2008, 47 (05) :379-385
[10]   KIF5B-RET fusions in lung adenocarcinoma [J].
Kohno, Takashi ;
Ichikawa, Hitoshi ;
Totoki, Yasushi ;
Yasuda, Kazuki ;
Hiramoto, Masaki ;
Nammo, Takao ;
Sakamoto, Hiromi ;
Tsuta, Koji ;
Furuta, Koh ;
Shimada, Yoko ;
Iwakawa, Reika ;
Ogiwara, Hideaki ;
Oike, Takahiro ;
Enari, Masato ;
Schetter, Aaron J. ;
Okayama, Hirokazu ;
Haugen, Aage ;
Skaug, Vidar ;
Chiku, Suenori ;
Yamanaka, Itaru ;
Arai, Yasuhito ;
Watanabe, Shun-ichi ;
Sekine, Ikuo ;
Ogawa, Seishi ;
Harris, Curtis C. ;
Tsuda, Hitoshi ;
Yoshida, Teruhiko ;
Yokota, Jun ;
Shibata, Tatsuhiro .
NATURE MEDICINE, 2012, 18 (03) :375-377