A review on genetic alterations in CNS metastases related to breast cancer treatment. Is there a role for liquid biopsies in CSF?

被引:2
作者
Wessels, Peter H. [1 ,2 ]
Boelens, Mirjam C. [3 ]
Monkhorst, Kim [3 ]
Sonke, Gabe S. [4 ]
van den Broek, Daan [5 ]
Brandsma, Dieta [1 ]
机构
[1] Netherlands Canc Inst, Dept Neurooncol, Amsterdam, Netherlands
[2] St Antonius Hosp, Dept Neurol, Nieuwegein, Utrecht, Netherlands
[3] Netherlands Canc Inst, Dept Pathol, Amsterdam, Netherlands
[4] Netherlands Canc Inst, Dept Med Oncol, Amsterdam, Netherlands
[5] Netherlands Canc Inst, Dept Lab Med, Amsterdam, Netherlands
关键词
Breast cancer; Brain metastases; Leptomeningeal metastases; Liquid biopsy; Genetic alterations; Concordance; CENTRAL-NERVOUS-SYSTEM; BRAIN METASTASES; CEREBROSPINAL-FLUID; GENOMIC CHARACTERIZATION; TUMOR DNA; MUTATIONS; LANDSCAPE; EVOLUTION; PATHWAY;
D O I
10.1007/s11060-023-04261-2
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Acquired mutations or altered gene expression patterns in brain metastases (BM) and/or leptomeningeal metastases (LM) of breast cancer may play a role in therapy-resistance and offer new molecular targets and treatment options. Despite expanding knowledge of genetic alterations in breast cancer and their metastases, clinical applications for patients with central nervous system (CNS) metastases are currently limited. An emerging tool are DNA-techniques that may detect genetic alterations of the CNS metastases in the cerebrospinal fluid (CSF). In this review we discuss genetic studies in breast cancer and CNS metastases and the role of liquid biopsies in CSF.
引用
收藏
页码:1 / 13
页数:13
相关论文
共 53 条
[1]   Detection of Aneuploidy in Cerebrospinal Fluid from Patients with Breast Cancer Can Improve Diagnosis of Leptomeningeal Metastases [J].
Angus, Lindsay ;
Deger, Teoman ;
Jager, Agnes ;
Martens, John W. M. ;
de Weerd, Vanja ;
van Heuvel, Irene ;
van den Bent, Martin J. ;
Smitt, Peter A. E. Sillevis ;
Kros, Johan M. ;
Bindels, Eric M. J. ;
Heitzer, Ellen ;
Sleijfer, Stefan ;
Jongen, Joost L. M. ;
Wilting, Saskia M. .
CLINICAL CANCER RESEARCH, 2021, 27 (10) :2798-2806
[2]   The genomic landscape of metastatic breast cancer highlights changes in mutation and signature frequencies [J].
Angus, Lindsay ;
Smid, Marcel ;
Wilting, Saskia M. ;
van Riet, Job ;
Van Hoeck, Arne ;
Luan Nguyen ;
Nik-Zainal, Serena ;
Steenbruggen, Tessa G. ;
Tjan-Heijnen, Vivianne C. G. ;
Labots, Mariette ;
van Riel, Johanna M. G. H. ;
Bloemendal, Haiko J. ;
Steeghs, Neeltje ;
Lolkema, Martijn P. ;
Voest, Emile E. ;
van de Werken, Harmen J. G. ;
Jager, Agnes ;
Cuppen, Edwin ;
Sleijfer, Stefan ;
Martens, John W. M. .
NATURE GENETICS, 2019, 51 (10) :1450-+
[3]   Incidence proportions of brain metastases in patients diagnosed (1973 to 2001) in the metropolitan Detroit cancer surveillance system [J].
Barnholtz-Sloan, JS ;
Sloan, AE ;
Davis, FG ;
Vigneau, FD ;
Lai, P ;
Sawaya, RE .
JOURNAL OF CLINICAL ONCOLOGY, 2004, 22 (14) :2865-2872
[4]   Response of Brain Metastases From PIK3CA-Mutant Breast Cancer to Alpelisib [J].
Batalini, Felipe ;
Moulder, Stacy L. ;
Winer, Eric P. ;
Rugo, Hope S. ;
Lin, Nancy U. ;
Wulf, Gerburg M. .
JCO PRECISION ONCOLOGY, 2020, 4 :572-578
[5]   A functional genetic approach identifies the PI3K pathway as a major determinant of trastuzumab resistance in breast cancer [J].
Berns, Katrien ;
Horlings, Hugo M. ;
Hennessy, Bryan T. ;
Madiredjo, Mandy ;
Hijmans, E. Marielle ;
Beelen, Karin ;
Linn, Sabine C. ;
Gonzalez-Angulo, Ana Maria ;
Stemke-Hale, Katherine ;
Hauptmann, Michael ;
Beijersbergen, Roderick L. ;
Mills, Gordon B. ;
de Vijver, Marc J. van ;
Bernards, Rene .
CANCER CELL, 2007, 12 (04) :395-402
[6]   Genomic characterization of metastatic breast cancers [J].
Bertucci, Francois ;
Ng, Charlotte K. Y. ;
Patsouris, Anne ;
Droin, Nathalie ;
Piscuoglio, Salvatore ;
Carbuccia, Nadine ;
Soria, Jean Charles ;
Dien, Alicia Tran ;
Adnani, Yahia ;
Kamal, Maud ;
Garnier, Severine ;
Meurice, Guillaume ;
Jimenez, Marta ;
Dogan, Semih ;
Verret, Benjamin ;
Chaffanet, Max ;
Bachelot, Thomas ;
Campone, Mario ;
Lefeuvre, Claudia ;
Bonnefoi, Herve ;
Dalenc, Florence ;
Jacquet, Alexandra ;
De Filippo, Maria R. ;
Babbar, Naveen ;
Birnbaum, Daniel ;
Filleron, Thomas ;
Le Tourneau, Christophe ;
Andre, Fabrice .
NATURE, 2019, 569 (7757) :560-+
[7]   Liquid biopsy in central nervous system metastases: a RANO review and proposals for clinical applications [J].
Boire, Adrienne ;
Brandsma, Dieta ;
Brastianos, Priscilla K. ;
Le Rhun, Emilie ;
Ahluwalia, Manmeet ;
Junck, Larry ;
Glantz, Michael ;
Groves, Morris D. ;
Lee, Eudocia Q. ;
Lin, Nancy ;
Raizer, Jeffrey ;
Ruda, Roberta ;
Weller, Michael ;
van den Bent, Martin J. ;
Vogelbaum, Michael A. ;
Chang, Susan ;
Wen, Patrick Y. ;
Soffietti, Riccardo .
NEURO-ONCOLOGY, 2019, 21 (05) :571-583
[8]   Cytogenomic profiling of breast cancer brain metastases reveals potential for repurposing targeted therapeutics [J].
Bollig-Fischer, Aliccia ;
Michelhaugh, Sharon K. ;
Wijesinghe, Priyanga ;
Dyson, Greg ;
Kruger, Adele ;
Palanisamy, Nallasivam ;
Choi, Lydia ;
Alosh, Baraa ;
Ali-Fehmi, Rouba ;
Mittal, Sandeep .
ONCOTARGET, 2015, 6 (16) :14614-14624
[9]   Genomic Characterization of Brain Metastases Reveals Branched Evolution and Potential Therapeutic Targets [J].
Brastianos, Priscilla K. ;
Carter, Scott L. ;
Santagata, Sandro ;
Cahill, Daniel P. ;
Taylor-Weiner, Amaro ;
Jones, Robert T. ;
Van Allen, Eliezer M. ;
Lawrence, Michael S. ;
Horowitz, Peleg M. ;
Cibulskis, Kristian ;
Ligon, Keith L. ;
Tabernero, Josep ;
Seoane, Joan ;
Martinez-Saez, Elena ;
Curry, William T. ;
Dunn, Ian F. ;
Paek, Sun Ha ;
Park, Sung-Hye ;
McKenna, Aaron ;
Chevalier, Aaron ;
Rosenberg, Mara ;
Barker, Frederick G., II ;
Gill, Corey M. ;
Van Hummelen, Paul ;
Thorner, Aaron R. ;
Johnson, Bruce E. ;
Hoang, Mai P. ;
Choueiri, Toni K. ;
Signoretti, Sabina ;
Sougnez, Carrie ;
Rabin, Michael S. ;
Lin, Nancy U. ;
Winer, Eric P. ;
Stemmer-Rachamimov, Anat ;
Meyerson, Matthew ;
Garraway, Levi ;
Gabriel, Stacey ;
Lander, Eric S. ;
Beroukhim, Rameen ;
Batchelor, Tracy T. ;
Baselga, Jose ;
Louis, David N. ;
Getz, Gad ;
Hahn, William C. .
CANCER DISCOVERY, 2015, 5 (11) :1164-1177
[10]   ESR1 Mutation Detection and Dynamics in Meningeal Carcinomatosis in Breast Cancer [J].
Carausu, Marcela ;
Melaabi, Samia ;
Pierga, Jean-Yves ;
Bidard, Francois-Clement ;
Cabel, Luc .
JOURNAL OF BREAST CANCER, 2020, 23 (02) :218-223