The expanding role of BAP1 in clear cell renal cell carcinoma

被引：13
作者：
Kapur, Payal [1 ,2 ,3 ,6 ]
Rajaram, Satwik [1 ,4 ]
Brugarolas, James [3 ,5 ]
机构：
[1] Univ Texas Southwestern Med Ctr, Dept Pathol, Dallas, TX 75390 USA
[2] Univ Texas Southwestern Med Ctr, Dept Urol, Dallas, TX 75390 USA
[3] Simmons Comprehens Canc Ctr, Kidney Canc Program, Dallas, TX 75390 USA
[4] Univ Texas Southwestern Med Ctr, Lyda Hill Dept Bioinformat, Dallas, TX 75390 USA
[5] Univ Texas Southwestern Med Ctr, Dept Internal Med Hematol Oncol, Dallas, TX 75390 USA
[6] Univ Texas Southwestern Med Ctr, Dept Pathol, Kidney Canc Program, 5323 Harry Hines Blvd, Dallas, TX 75390 USA
来源：
HUMAN PATHOLOGY | 2023年 / 133卷
关键词：
BAP1; ccRCC; RCC; PBRM1; TUMOR-SUPPRESSOR; BRCA1-ASSOCIATED PROTEIN-1; MUTATIONS PREDISPOSE; PBRM1; OUTCOMES; SETD2; VHL; INACTIVATION; ACTIVATION; EXPRESSION;
D O I：
10.1016/j.humpath.2022.07.022
中图分类号：
R36 [病理学];
学科分类号：
100104 ;
摘要：
Mutations drive renal cell carcinoma biology and tumor growth. The BRCA1-associated protein-1 (BAP1) gene is frequently mutated in clear cell renal cell carcinoma (ccRCC) and has emerged as a prognostic and putative predictive biomarker. In this review, we discuss the role of BAP1 as a signature event of a subtype of ccRCC marked by aggressiveness, inflammation, and possibly a heightened response to immunotherapy. (c) 2022 Elsevier Inc. All rights reserved.
引用
收藏
页码：22 / 31
页数：10
相关论文
共 75 条
  • [1] Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers
    Abdel-Rahman, Mohamed H.
    Pilarski, Robert
    Cebulla, Colleen M.
    Massengill, James B.
    Christopher, Benjamin N.
    Boru, Getachew
    Hovland, Peter
    Davidorf, Frederick H.
    [J]. JOURNAL OF MEDICAL GENETICS, 2011, 48 (12) : 856 - 859
  • [2] Intratumoral Resolution of Driver Gene Mutation Heterogeneity in Renal Cancer Using Deep Learning
    Acosta, Paul H.
    Panwar, Vandana
    Jarmale, Vipul
    Christie, Alana
    Jasti, Jay
    Margulis, Vitaly
    Rakheja, Dinesh
    Cheville, John
    Leibovich, Bradley C.
    Parker, Alexander
    Brugarolas, James
    Kapur, Payal
    Rajaram, Satwik
    [J]. CANCER RESEARCH, 2022, 82 (15) : 2792 - 2806
  • [3] Patterns of Gene Expression and Copy-Number Alterations in von-Hippel Lindau Disease-Associated and Sporadic Clear Cell Carcinoma of the Kidney
    Beroukhim, Rameen
    Brunet, Jean-Philippe
    Di Napoli, Arianna
    Mertz, Kirsten D.
    Seeley, Apryle
    Pires, Maira M.
    Linhart, David
    Worrell, Robert A.
    Moch, Holger
    Rubin, Mark A.
    Sellers, William R.
    Meyerson, Matthew
    Linehan, W. Marston
    Kaelin, William G., Jr.
    Signoretti, Sabina
    [J]. CANCER RESEARCH, 2009, 69 (11) : 4674 - 4681
  • [4] Genomic characterization of sarcomatoid transformation in clear cell renal cell carcinoma
    Bi, Mark
    Zhao, Siming
    Said, Jonathan W.
    Merino, Maria J.
    Adeniran, Adebowale J.
    Xie, Zuoquan
    Nawaf, Cayce B.
    Choi, Jaehyuk
    Belldegrun, Arie S.
    Pantuck, Allan J.
    Kluger, Harriet M.
    Bilguevar, Kaya
    Lifton, Richard P.
    Shuch, Brian
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2016, 113 (08) : 2170 - 2175
  • [5] Brannon A Rose, 2010, Genes Cancer, V1, P152
  • [6] The Evolution of Angiogenic and Inflamed Tumors: The Renal Cancer Paradigm
    Brugarolas, James
    Rajaram, Satwik
    Christie, Alana
    Kapur, Payal
    [J]. CANCER CELL, 2020, 38 (06) : 771 - 773
  • [7] PBRM1 and BAP1 as Novel Targets for Renal Cell Carcinoma
    Brugarolas, James
    [J]. CANCER JOURNAL, 2013, 19 (04) : 324 - 332
  • [8] Building better vasculature
    Bruick, RK
    McKnight, SL
    [J]. GENES & DEVELOPMENT, 2001, 15 (19) : 2497 - 2502
  • [9] Ontological analyses reveal clinically-significant clear cell renal cell carcinoma subtypes with convergent evolutionary trajectories into an aggressive type
    Cai, Qi
    Christie, Alana
    Rajaram, Satwik
    Zhou, Qinbo
    Araj, Ellen
    Chintalapati, Suneetha
    Cadeddu, Jeffrey
    Margulis, Vitaly
    Pedrosa, Ivan
    Rakheja, Dinesh
    McKay, Renee M.
    Brugarolas, James
    Kapur, Payal
    [J]. EBIOMEDICINE, 2020, 51
  • [10] BAP1 and cancer
    Carbone, Michele
    Yang, Haining
    Pass, Harvey I.
    Krausz, Thomas
    Testa, Joseph R.
    Gaudino, Giovanni
    [J]. NATURE REVIEWS CANCER, 2013, 13 (03) : 153 - 159
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