Genomic analysis of 220 CTCLs identifies a novel recurrent gain-of-function alteration in RLTPR (p.Q575E)-Reference-Cited by-同舟云学术

Genomic analysis of 220 CTCLs identifies a novel recurrent gain-of-function alteration in RLTPR (p.Q575E)

Published:2017-09-21 Issue:12 Volume:130 Page:1430-1440
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Park Joonhee¹²³^ORCID,Yang Jingyi¹²³^ORCID,Wenzel Alexander T.¹²³,Ramachandran Akshaya¹²³,Lee Wung J.¹²³,Daniels Jay C.¹²³^ORCID,Kim Juhyun¹²³,Martinez-Escala Estela⁴^ORCID,Amankulor Nduka⁵,Pro Barbara³,Guitart Joan⁴,Mendillo Marc L.²^ORCID,Savas Jeffrey N.⁶^ORCID,Boggon Titus J.⁷⁸^ORCID,Choi Jaehyuk¹²³⁹^ORCID

Affiliation:

1. Department of Dermatology and

2. Department of Biochemistry and Molecular Genetics, Northwestern University Feinberg School of Medicine, Chicago, IL;

3. Robert H. Lurie Comprehensive Cancer Center and

4. Division of Dermatopathology, Department of Dermatology, Northwestern University, Chicago, IL;

5. Department of Neurological Surgery, University of Pittsburgh Medical Center, Pittsburgh, PA;

6. Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL;

7. Department of Pharmacology and

8. Department of Molecular Biology and Biophysics, Yale University School of Medicine, New Haven, CT; and

9. Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL

Abstract

Key Points Genomic analysis of 220 CTCLs identifies 55 genes in lymphomagenesis, including 17 genes not previously implicated in CTCL. RLTPR (p.Q575E) is a novel gain-of-function mutation that potentiates T-cell receptor signaling via selective upregulation of the NF-κB pathway.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/130/12/1430/1402542/blood768234.pdf

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