Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis-Reference-Cited by-同舟云学术

Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis

Published:2014-11-06 Issue:19 Volume:124 Page:3007-3015
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Chakraborty Rikhia¹,Hampton Oliver A.²³,Shen Xiaoyun¹,Simko Stephen J.¹⁴,Shih Albert¹,Abhyankar Harshal¹,Lim Karen Phaik Har¹⁵,Covington Kyle R.²³,Trevino Lisa²³,Dewal Ninad²³,Muzny Donna M.³,Doddapaneni Harshavardhan³,Hu Jianhong³,Wang Linghua²³,Lupo Philip J.¹⁴,Hicks M. John¹⁴⁶,Bonilla Diana L.⁷,Dwyer Karen C.⁷,Berres Marie-Luise⁸⁹¹⁰,Poulikakos Poulikos I.⁸⁹¹¹,Merad Miriam⁸⁹¹⁰,McClain Kenneth L.¹⁴,Wheeler David A.²³,Allen Carl E.¹⁴⁵,Parsons D. Williams¹²³⁴⁵

Affiliation:

1. Texas Children’s Cancer Center, Texas Children’s Hospital, Houston, TX;

2. Department of Molecular and Human Genetics,

3. Human Genome Sequencing Center,

4. Division of Pediatric Hematology-Oncology, Department of Pediatrics,

5. Program in Translational Biology and Molecular Medicine, and

6. Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX;

7. Stem Cell Transplantation and Cellular Therapy, University of Texas MD Anderson Cancer Center, Houston, TX; and

8. Department of Oncological Sciences,

9. Tisch Cancer Institute,

10. Immunology Institute, and

11. Department of Dermatology, Icahn School of Medicine, New York, NY

Abstract

Key Points Recurrent somatic mutations in MAP2K1 were identified in 33% of LCH lesions with wild-type BRAF. The mutant MAPK kinase 1 proteins activate ERK. The ability of MAPK pathway inhibitors to suppress MAPK kinase and ERK phosphorylation in vitro was dependent on the specific LCH mutation.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/124/19/3007/1381467/3007.pdf

Reference43 articles.

1. BRAF-V600E expression in precursor versus differentiated dendritic cells defines clinically distinct LCH risk groups.;Berres;J Exp Med,2014

2. The histiocytoses: the fall of the Tower of Babel.;Arceci;Eur J Cancer,1999

3. Therapy prolongation improves outcome in multisystem Langerhans cell histiocytosis.;Gadner;Blood,2013

4. Recurrent BRAF mutations in Langerhans cell histiocytosis.;Badalian-Very;Blood,2010

5. High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses.;Haroche;Blood,2012

Cited by 366 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Review and a case of rare Rosai-Dorfman disease;Biotechnology & Biotechnological Equipment;2024-09-10

2. Real-world experience with targeted therapy in patients with histiocytic neoplasms in the Netherlands and in Belgium;Blood Neoplasia;2024-09

3. Cutaneous Rosai–Dorfman disease with MAP2K1 mutation, initially mimicking an infection with parasitized histiocytes;Journal of Cutaneous Pathology;2024-08-09

4. Targeted Therapy With Vemurafenib in Brazilian Children With Refractory Langerhans Cell Histiocytosis: Two Case Reports and Review of Literature;Cancer Reports;2024-08

5. Molecular Developments in Parasellar Tumors and Potential Therapeutic Implications;Endocrine Reviews;2024-07-26