B lymphoblastic leukemia with ETV6 amplification

被引：9

作者：

Chae, Hyojin ^{[1
]}

Kim, Myungshin ^{[1
]}

Lim, Jihyang ^{[1
]}

Kim, Yonggoo ^{[1
]}

Han, Kyungja ^{[1
]}

Lee, Seok ^{[2
]}

机构：

[1] Catholic Univ Korea, Coll Med, Dept Lab Med, Seoul 137701, South Korea

[2] Catholic Univ Korea, Coll Med, Catholic Blood & Marrow Transplantat Ctr, Seoul 137701, South Korea

来源：

CANCER GENETICS AND CYTOGENETICS | 2010年 / 203卷 / 02期

关键词：

ACUTE MYELOID-LEUKEMIA; DOUBLE MINUTE CHROMOSOMES; MUTATIONS; TEL/ETV6; PROTEIN; PLAYER; GENE; TEL;

D O I：

10.1016/j.cancergencyto.2010.08.004

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

We presente a case of acute lymphoblastic leukemia caused by ETV6 amplification. Although the cytogenetic result revealed complex karyotype, multicolor fluorescence in situ hybridization and high-resolution multicolor banding supported amplification of a gene on 12p13. Fluorescence in situ hybridization with ETV6 probe confirmed the amplification. ETV6 generally plays as tumor-suppressor gene in leukemia. Their expression is decreased or missed by deletion or mutation. Otherwise, ETV6 protein overexpression was verified in this case by immunohistochemistry. Any translocation or mutation involving ETV6 was not detected. This experience strongly supports the hypothesis that the amplification of ETV6 is a possible mechanism of leukeogenesis as oncogene. (C) 2010 Elsevier Inc. All rights reserved.

引用

页码：284 / 287

页数：4

共 15 条

[1] Avet-Loiseau H, 1999, GENE CHROMOSOME CANC, V26, P166, DOI 10.1002/(SICI)1098-2264(199910)26:2<166::AID-GCC9>3.0.CO
[2] 2-P
[3] ETV6: A versatile player in leukemogenesis
Bohlander, SK
[J]. SEMINARS IN CANCER BIOLOGY, 2005, 15 (03) : 162 - 174
[4] The MN1-TEL fusion protein, encoded by the translocation (12;22)(p13;q11) in myeloid leukemia, is a transcription factor with transforming activity
Buijs, A
van Rompaey, L
Molijn, AC
Davis, JN
Vertegaal, ACO
Potter, MD
Adams, C
van Baal, S
Zwarthoff, EC
Roussel, MF
Grosveld, GC
[J]. MOLECULAR AND CELLULAR BIOLOGY, 2000, 20 (24) : 9281 - 9293
[5] Characterization of the C-MYC amplicon in a case of acute myeloid leukemia with double minute chromosomes
Crossen, PE
Savage, LM
Heaton, DC
Morrison, MJ
[J]. CANCER GENETICS AND CYTOGENETICS, 1999, 112 (02) : 144 - 148
[6] Tel/Etv6 is an essential and selective regulator of adult hematopoietic stem cell survival
Hock, H
Meade, E
Medeiros, S
Schindler, JW
Valk, PJM
Fujiwara, Y
Orkin, SH
[J]. GENES & DEVELOPMENT, 2004, 18 (19) : 2336 - 2341
[7] ETV6/RUNX1 abrogates mitotic checkpoint function and targets its key player MAD2L1
Krapf, G.
Kaindl, U.
Kilbey, A.
Fuka, G.
Inthal, A.
Joas, R.
Mann, G.
Neil, J. C.
Haas, O. A.
Panzer-Gruemayer, E. R.
[J]. ONCOGENE, 2010, 29 (22) : 3307 - 3312
[8] ETV6 (TEL) gene amplification in a myelodysplastic syndrome with excess of blasts
Mauvieux, L
Helias, C
Perrusson, N
Lioure, B
Sorel, N
Brizard, F
Lessard, M
[J]. LEUKEMIA, 2004, 18 (08) : 1436 - 1438
[9] Detection of double minute chromosomes in a child with acute lymphoblastic leukemia
Murray, JC
Poplack, DG
Mahoney, DH
Gresik, MV
Harrison, WR
Cooley, LD
[J]. CANCER GENETICS AND CYTOGENETICS, 1998, 101 (02) : 138 - 142
[10] Expression profile of wild-type ETV6 in childhood acute leukaemia
Patel, N
Goff, LK
Clark, T
Ford, AM
Foot, N
Lillington, D
Hing, S
Pritchard-Jones, K
Jones, LK
Saha, V
[J]. BRITISH JOURNAL OF HAEMATOLOGY, 2003, 122 (01) : 94 - 98

← 1 2 →