The NF1 gene in tumor syndromes and melanoma

被引：148

作者：

Kiuru, Maija ^{[1
,2
]}

Busam, Klaus J. ^{[3
]}

机构：

[1] Univ Calif Davis, Dept Dermatol, 3301 C St,Suite 1450, Sacramento, CA 95816 USA

[2] Univ Calif Davis, Dept Pathol, 3301 C St,Suite 1450, Sacramento, CA 95816 USA

[3] Mem Sloan Kettering Canc Ctr, Dept Pathol, 1275 York Ave, New York, NY 10021 USA

来源：

LABORATORY INVESTIGATION | 2017年 / 97卷 / 02期

基金：

美国国家卫生研究院;

关键词：

NEUROFIBROMATOSIS TYPE-1 GENE; INHIBITOR AZD6244 ARRY-142886; OF-FUNCTION MUTATIONS; NERVE SHEATH TUMORS; DESMOPLASTIC MELANOMA; PHASE-I; ANTITUMOR-ACTIVITY; GENOMIC LANDSCAPE; BENIGN-TUMORS; NRAS-MUTANT;

D O I：

10.1038/labinvest.2016.142

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Activation of the RAS/MAPK pathway is critical in melanoma. Melanoma can be grouped into four molecular subtypes based on their main genetic driver: BRAF-mutant, NRAS-mutant, NF1-mutant, and triple wild-type tumors. The NF1 protein, neurofibromin 1, negatively regulates RAS proteins through GTPase activity. Germline mutations in NF-1 cause neurofibromatosis type I, a common genetic tumor syndrome caused by dysregulation of the RAS/MAPK pathway, ie, RASopathy. Melanomas with NF1 mutations typically occur on chronically sun-exposed skin or in older individuals, show a high mutation burden, and are wild-type for BRAF and NRAS. Additionally, NF1 mutations characterize certain clinicopathologic melanoma subtypes, specifically desmoplastic melanoma. This review discusses the current knowledge of the NF1 gene and neurofibromin 1 in neurofibromatosis type I and in melanoma.

引用

页码：146 / 157

页数：12

共 115 条

[1] Phase I pharmacokinetic and pharmacodynamic study of the oral, small-molecule mitogen-activated protein kinase kinase 1/2 inhibitor AZD6244 (ARRY-142886) in patients with advanced cancers [J].

Adjei, Alex A. ;

Cohen, Roger B. ;

Franklin, Wilbur ;

Morris, Clive ;

Wilson, David ;

Molina, Julian R. ;

Hanson, Lorelei J. ;

Gore, Lia ;

Chow, Laura ;

Leong, Stephen ;

Maloney, Lara ;

Gordon, Gilad ;

Simmons, Heidi ;

Marlow, Allison ;

Litwiler, Kevin ;

Brown, Suzy ;

Poch, Gregory ;

Kane, Katie ;

Haney, Jerry ;

Eckhardt, S. Gail .

JOURNAL OF CLINICAL ONCOLOGY, 2008, 26 (13) :2139-2146

[2] Genomic Classification of Cutaneous Melanoma [J].

Akbani, Rehan ;

Akdemir, Kadir C. ;

Aksoy, B. Arman ;

Albert, Monique ;

Ally, Adrian ;

Amin, Samirkumar B. ;

Arachchi, Harindra ;

Arora, Arshi ;

Auman, J. Todd ;

Ayala, Brenda ;

Baboud, Julien ;

Balasundaram, Miruna ;

Balu, Saianand ;

Barnabas, Nandita ;

Bartlett, John ;

Bartlett, Pam ;

Bastian, Boris C. ;

Baylin, Stephen B. ;

Behera, Madhusmita ;

Belyaev, Dmitry ;

Benz, Christopher ;

Bernard, Brady ;

Beroukhim, Rameen ;

Bir, Natalie ;

Black, Aaron D. ;

Bodenheimer, Tom ;

Boice, Lori ;

Boland, Genevieve M. ;

Bono, Riccardo ;

Bootwalla, Moiz S. ;

Bosenberg, Marcus ;

Bowen, Jay ;

Bowlby, Reanne ;

Bristow, Christopher A. ;

Brockway-Lunardi, Laura ;

Brooks, Denise ;

Brzezinski, Jakub ;

Bshara, Wiam ;

Buda, Elizabeth ;

Burns, William R. ;

Butterfield, Yaron S. N. ;

Button, Michael ;

Calderone, Tiffany ;

Cappellini, Giancarlo Antonini ;

Carter, Candace ;

Carter, Scott L. ;

Cherney, Lynn ;

Cherniack, Andrew D. ;

Chevalier, Aaron ;

Chin, Lynda .

CELL, 2015, 161 (07) :1681-1696

[3] Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? [J].

Alkindy, Adila ;

Chuzhanova, Nadia ;

Kini, Usha ;

Cooper, David N. ;

Upadhyaya, Meena .

HUMAN GENOMICS, 2012, 6

[4] In vitro modeling of hyperpigmentation associated to neurofibromatosis type 1 using melanocytes derived from human embryonic stem cells [J].

Allouche, Jennifer ;

Bellon, Nathalia ;

Saidani, Manoubia ;

Stanchina-Chatrousse, Laure ;

Masson, Yolande ;

Patwardhan, Anand ;

Gilles-Marsens, Floriane ;

Delevoye, Cedric ;

Domingues, Sophie ;

Nissan, Xavier ;

Martinat, Cecile ;

Lemaitre, Gilles ;

Peschanski, Marc ;

Baldeschi, Christine .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2015, 112 (29) :9034-9039

[5] MEK162 for patients with advanced melanoma harbouring NRAS or Val600 BRAF mutations: a non-randomised, open-label phase 2 study [J].

Ascierto, Paolo A. ;

Schadendorf, Dirk ;

Berking, Carola ;

Agarwala, Sanjiv S. ;

van Herpen, Carla M. L. ;

Queirolo, Paola ;

Blank, Christian U. ;

Hauschild, Axel ;

Beck, J. Thaddeus ;

St-Pierre, Annie ;

Niazi, Faiz ;

Wandel, Simon ;

Peters, Malte ;

Zubel, Angela ;

Dummer, Reinhard .

LANCET ONCOLOGY, 2013, 14 (03) :249-256

[6] Fast and Robust Next-Generation Sequencing Technique Using Ion Torrent Personal Genome Machine for the Screening of Neurofibromatosis Type 1 (NF1) Gene [J].

Balla, Bernadett ;

Arvai, Kristof ;

Horvath, Peter ;

Tobias, Balint ;

Takacs, Istvan ;

Nagy, Zsolt ;

Dank, Magdolna ;

Fekete, Gyoergy ;

Kosa, Janos P. ;

Lakatos, Peter .

JOURNAL OF MOLECULAR NEUROSCIENCE, 2014, 53 (02) :204-210

[7] The First-in-Human Study of the Hydrogen Sulfate (Hyd-Sulfate) Capsule of the MEK1/2 Inhibitor AZD6244 (ARRY-142886): A Phase I Open-Label Multicenter Trial in Patients with Advanced Cancer [J].

Banerji, Udai ;

Camidge, D. Ross ;

Verheul, Henk M. W. ;

Agarwal, Roshan ;

Sarker, Debashis ;

Kaye, Stan B. ;

Desar, Ingrid M. E. ;

Timmer-Bonte, Johanna N. H. ;

Eckhardt, S. Gail ;

Lewis, Karl D. ;

Brown, Kathryn H. ;

Cantarini, Mireille V. ;

Morris, Clive ;

George, Sarah M. A. ;

Smith, Paul D. ;

van Herpen, Carla M. L. .

CLINICAL CANCER RESEARCH, 2010, 16 (05) :1613-1623

[8] A GENOMIC SEARCH FOR LINKAGE OF NEUROFIBROMATOSIS TO RFLPS [J].

BARKER, D ;

WRIGHT, E ;

NGUYEN, K ;

CANNON, L ;

FAIN, P ;

GOLDGAR, D ;

BISHOP, DT ;

CAREY, J ;

KIVLIN, J ;

WILLARD, H ;

NAKAMURA, Y ;

OCONNELL, P ;

LEPPERT, M ;

WHITE, R ;

SKOLNICK, M .

JOURNAL OF MEDICAL GENETICS, 1987, 24 (09) :536-538

[9] GENE FOR VON RECKLINGHAUSEN NEUROFIBROMATOSIS IS IN THE PERICENTROMERIC REGION OF CHROMOSOME-17 [J].

BARKER, D ;

WRIGHT, E ;

NGUYEN, K ;

CANNON, L ;

FAIN, P ;

GOLDGAR, D ;

BISHOP, DT ;

CAREY, J ;

BATY, B ;

KIVLIN, J ;

WILLARD, H ;

WAYE, JS ;

GREIG, G ;

LEINWAND, L ;

NAKAMURA, Y ;

OCONNELL, P ;

LEPPERT, M ;

LALOUEL, JM ;

WHITE, R ;

SKOLNICK, M .

SCIENCE, 1987, 236 (4805) :1100-1102

[10] Comprehensive molecular characterization of gastric adenocarcinoma [J].

Bass, Adam J. ;

Thorsson, Vesteinn ;

Shmulevich, Ilya ;

Reynolds, Sheila M. ;

Miller, Michael ;

Bernard, Brady ;

Hinoue, Toshinori ;

Laird, Peter W. ;

Curtis, Christina ;

Shen, Hui ;

Weisenberger, Daniel J. ;

Schultz, Nikolaus ;

Shen, Ronglai ;

Weinhold, Nils ;

Keiser, David P. ;

Bowlby, Reanne ;

Sipahimalani, Payal ;

Cherniack, Andrew D. ;

Getz, Gad ;

Liu, Yingchun ;

Noble, Michael S. ;

Pedamallu, Chandra ;

Sougnez, Carrie ;

Taylor-Weiner, Amaro ;

Akbani, Rehan ;

Lee, Ju-Seog ;

Liu, Wenbin ;

Mills, Gordon B. ;

Yang, Da ;

Zhang, Wei ;

Pantazi, Angeliki ;

Parfenov, Michael ;

Gulley, Margaret ;

Piazuelo, M. Blanca ;

Schneider, Barbara G. ;

Kim, Jihun ;

Boussioutas, Alex ;

Sheth, Margi ;

Demchok, John A. ;

Rabkin, Charles S. ;

Willis, Joseph E. ;

Ng, Sam ;

Garman, Katherine ;

Beer, David G. ;

Pennathur, Arjun ;

Raphael, Benjamin J. ;

Wu, Hsin-Ta ;

Odze, Robert ;

Kim, Hark K. ;

Bowen, Jay .

NATURE, 2014, 513 (7517) :202-209

← 1 2 3 4 5 6 7 8 9 10 →