NOTCH1 mutations in CLL associated with trisomy 12

被引：162

作者：

Balatti, Veronica ^{[1
]}

Bottoni, Arianna ^{[1
]}

Palamarchuk, Alexey ^{[1
]}

Alder, Hansjuerg ^{[1
]}

Rassenti, Laura Z. ^{[2
]}

Kipps, Thomas J. ^{[2
]}

Pekarsky, Yuri ^{[1
]}

Croce, Carlo M. ^{[1
]}

机构：

[1] Ohio State Univ, Ctr Comprehens Canc, Dept Mol Virol Immunol & Med Genet, Columbus, OH 43210 USA

[2] Univ Calif San Diego, Dept Med, La Jolla, CA 92093 USA

来源：

BLOOD | 2012年 / 119卷 / 02期

基金：

美国国家卫生研究院;

关键词：

CHRONIC LYMPHOCYTIC-LEUKEMIA;

D O I：

10.1182/blood-2011-10-386144

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Two recent studies reported whole-genome sequencing of chronic lymphocytic leukemia (CLL) samples and found repeated mutations in the XPO1 and NOTCH1 genes. XPO1 was found mutated in 2.4% of cases, while NOTCH1 was found mutated in 12.2% or 15.1% of CLL samples. Here we report the results of sequencing of XPO1 and NOTCH1 in 186 CLL cases. Our results confirmed frequency of XPO1 mutations. However, we found only 5 NOTCH1 mutations in 127 IGVH unmutated/ZAP70(+) CLL samples (4%), and one mutation was found in IGVH mutated/ZAP70(+) CLL for a total percentage of 1.5%. Because 4 of 6 mutated samples also showed trisomy 12, we sequenced NOTCH1 in an additional 77 cases with trisomy 12 CLLs, including 47 IGVH unmutated/ZAP70(+) cases. Importantly, we found 41.9% NOTCH1 mutation frequency in aggressive trisomy 12 CLL cases. Our data suggest that activation of NOTCH1 plays a critical role in IGVH unmutated/ZAP70(+) trisomy 12 CLL. (Blood. 2012;119(2):329-331)

引用

页码：329 / 331

页数：3

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