Genomic landscape of cutaneous T cell lymphoma

被引：335

作者：

Choi, Jaehyuk ^{[1
,2
]}

Goh, Gerald ^{[3
,4
]}

Walradt, Trent ^{[1
]}

Hong, Bok S. ^{[1
]}

Bunick, Christopher G. ^{[1
]}

Chen, Kan ^{[1
]}

Bjornson, Robert D. ^{[5
]}

Maman, Yaakov ^{[3
,6
]}

Wang, Tiffany ^{[1
]}

Tordoff, Jesse ^{[1
]}

Carlson, Kacie ^{[1
]}

Overton, John D. ^{[7
]}

Liu, Kristina J. ^{[1
]}

Lewis, Julia M. ^{[1
]}

Devine, Lesley ^{[8
]}

Barbarotta, Lisa ^{[9
]}

Foss, Francine M. ^{[1
,9
]}

Subtil, Antonio ^{[1
]}

Vonderheid, Eric C. ^{[10
]}

Edelson, Richard L. ^{[1
]}

Schatz, David G. ^{[3
,6
]}

Boggon, Titus J. ^{[11
]}

Girardi, Michael ^{[1
]}

Lifton, Richard P. ^{[3
,4
,12
]}

机构：

[1] Yale Univ, Sch Med, Dept Dermatol, New Haven, CT 06510 USA

[2] Dept Vet Affairs Connecticut Healthcare, Dept Dermatol, West Haven, CT USA

[3] Yale Univ, Sch Med, Howard Hughes Med Inst, New Haven, CT 06510 USA

[4] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA

[5] Yale Univ, Dept Comp Sci, New Haven, CT 06520 USA

[6] Yale Univ, Sch Med, Dept Immunobiol, New Haven, CT USA

[7] Yale Univ, Sch Med, Yale Ctr Genome Anal, New Haven, CT USA

[8] Yale Univ, Sch Med, Dept Lab Med, New Haven, CT 06510 USA

[9] Yale Univ, Sch Med, Dept Med Hematol, New Haven, CT USA

[10] Johns Hopkins Univ, Sch Med, Dept Oncol, Sydney Kimmel Canc Ctr, Baltimore, MD 21205 USA

[11] Yale Univ, Sch Med, Dept Pharmacol, New Haven, CT 06510 USA

[12] Yale Univ, Sch Med, Yale Ctr Mendelian Genom, New Haven, CT USA

来源：

NATURE GENETICS | 2015年 / 47卷 / 09期

基金：

美国国家卫生研究院;

关键词：

COPY-NUMBER ALTERATION; MUTATIONS; CANCER; IDENTIFICATION; RHOA; GENE; EXPRESSION; PROTEIN; KINASE; CD80;

D O I：

10.1038/ng.3356

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

Cutaneous T cell lymphoma (CTCL) is a non-Hodgkin lymphoma of skin-homing T lymphocytes. We performed exome and whole-genome DNA sequencing and RNA sequencing on purified CTCL and matched normal cells. The results implicate mutations in 17 genes in CTCL pathogenesis, including genes involved in T cell activation and apoptosis, NF-kappa B signaling, chromatin remodeling and DNA damage response. CTCL is distinctive in that somatic copy number variants (SCNVs) comprise 92% of all driver mutations (mean of 11.8 pathogenic SCNVs versus 1.0 somatic single-nucleotide variant per CTCL). These findings have implications for new therapeutics.

引用

页码：1011 / +

页数：11

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