Distinct mechanisms of PTEN inactivation in dogs and humans highlight convergent molecular events that drive cell division in the pathogenesis of osteosarcoma

Cancer Genetics - Tập 276 - Trang 1-11 - 2023
Aaron L. Sarver1,2,3, Lauren J. Mills1,4, Kelly M. Makielski1,3,5, Nuri A. Temiz1,2, Jinhua Wang1,2, Logan G. Spector1,4,3, Subbaya Subramanian1,3,6, Jaime F. Modiano1,3,5,7,8,9,10
1Masonic Cancer Center, University of Minnesota, Minneapolis, MN 55455, USA
2Institute for Health Informatics, University of Minnesota, Minneapolis, MN 55455, USA
3Animal Cancer Care and Research Program, University of Minnesota, St. Paul, MN 55108, USA
4Department of Pediatrics University of Minnesota Medical School, Minneapolis, MN 55455, USA
5Department of Veterinary Clinical Sciences, University of Minnesota College of Veterinary Medicine, St. Paul, MN 55108, USA
6Department of Surgery, University of Minnesota School of Medicine, Minneapolis, MN 55455, USA
7Center for Immunology, University of Minnesota, Minneapolis, MN 55455, USA
8Stem Cell Institute, University of Minnesota, Minneapolis, MN 55455, USA
9Center for Engineering and Medicine, University of Minnesota, Minneapolis, MN 55455, USA
10Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, MN 55455, USA

Tài liệu tham khảo

Makielski, 2019, Risk factors for development of canine and human osteosarcoma: a comparative review, Vet Sci, 6, 48, 10.3390/vetsci6020048 Sakthikumar, 2018, SETD2 is recurrently mutated in whole-exome sequenced canine osteosarcoma, Cancer Res, 78, 3421, 10.1158/0008-5472.CAN-17-3558 Gardner, 2019, "Canine osteosarcoma genome sequencing identifies recurrent mutations in DMD and the histone methyltransferase gene SETD2", Commun Biol, 2, 1, 10.1038/s42003-019-0487-2 Chen, 2014, Recurrent somatic structural variations contribute to tumorigenesis in pediatric osteosarcoma, Cell Rep, 7, 104, 10.1016/j.celrep.2014.03.003 Angstadt, 2011, Characterization of canine osteosarcoma by array comparative genomic hybridization and RT-qPCR: signatures of genomic imbalance in canine osteosarcoma parallel the human counterpart, Genes Chromosom Cancer, 50, 859, 10.1002/gcc.20908 Thomas, 2009, Influence of genetic background on tumor karyotypes: evidence for breed-associated cytogenetic aberrations in canine appendicular osteosarcoma, Chromosome Res, 17, 365, 10.1007/s10577-009-9028-z Perry, 2014, Complementary genomic approaches highlight the PI3K/mTOR pathway as a common vulnerability in osteosarcoma, Proc Natl Acad Sci, 111, E5564, 10.1073/pnas.1419260111 Zheng, 2020, PTEN in osteosarcoma: recent advances and the therapeutic potential, Biochim Biophys Acta BBA Rev Cancer, 1874, 188405, 10.1016/j.bbcan.2020.188405 Scott, 2015, Aberrant retinoblastoma (RB)-E2F transcriptional regulation defines molecular phenotypes of osteosarcoma, J Biol Chem, 290, 28070, 10.1074/jbc.M115.679696 Shao, 2019, Cross-species genomics identifies DLG2 as a tumor suppressor in osteosarcoma, Oncogene, 38, 291, 10.1038/s41388-018-0444-4 Kresse, 2009, LSAMP, a novel candidate tumor suppressor gene in human osteosarcomas, identified by array comparative genomic hybridization, Genes Chromosom Cancer, 48, 679, 10.1002/gcc.20675 Levine, 2002, Tumor suppressor PTEN is mutated in canine osteosarcoma cell lines and tumors, Vet Pathol, 39, 372, 10.1354/vp.39-3-372 Moriarity, 2015, A Sleeping Beauty forward genetic screen identifies new genes and pathways driving osteosarcoma development and metastasis, Nat Genet, 47, 615, 10.1038/ng.3293 Temiz, 2016, RNA sequencing of Sleeping Beauty transposon-induced tumors detects transposon-RNA fusions in forward genetic cancer screens, Genome Res, 26, 119, 10.1101/gr.188649.114 Scott, 2011, Molecular subtypes of osteosarcoma identified by reducing tumor heterogeneity through an interspecies comparative approach, Bone, 49, 356, 10.1016/j.bone.2011.05.008 Chibon, 2010, "Validated prediction of clinical outcome in sarcomas and multiple types of cancer on the basis of a gene expression signature related to genome complexity", Nat Med, 16, 781, 10.1038/nm.2174 Scott, 2018, Comparative transcriptome analysis quantifies immune cell transcript levels, metastatic progression, and survival in osteosarcoma, Cancer Res, 78, 326, 10.1158/0008-5472.CAN-17-0576 Mazcko, 2015, The establishment of the Pfizer-canine comparative oncology and genomics consortium biospecimen repository, Vet Sci, 2, 127, 10.3390/vetsci2030127 Wang, 2004, Human Zwint-1 specifies localization of Zeste White 10 to kinetochores and is essential for mitotic checkpoint signaling, J Biol Chem, 279, 54590, 10.1074/jbc.M407588200 Mills, 2020, Comparative analysis of genome-wide DNA methylation identifies patterns that associate with conserved transcriptional programs in osteosarcoma, Bone, 158 Álvarez-Garcia, 2019, Mechanisms of PTEN loss in cancer: it's all about diversity, 59, 66 Li, 2021, PI3Kγ inhibition suppresses microglia/TAM accumulation in glioblastoma microenvironment to promote exceptional temozolomide response, Proc Natl Acad Sci, 118, 10.1073/pnas.2009290118 Beckmann, 2019, Sleeping Beauty Insertional Mutagenesis Reveals Important Genetic Drivers of Central Nervous System Embryonal TumorsSB Identifies Novel Drivers in Medulloblastoma and CNS-PNET, Cancer Res, 79, 905, 10.1158/0008-5472.CAN-18-1261 Sarver, 2021, "Retinoblastoma tumor cell proliferation is negatively associated with an immune gene expression signature and increased immune cells", Lab Invest, 101, 701, 10.1038/s41374-021-00573-x Heltemes-Harris, 2021, Identification of mutations that cooperate with defects in B cell transcription factors to initiate leukemia, Oncogene, 40, 6166, 10.1038/s41388-021-02012-z Koshkina, 2007, Fas-negative osteosarcoma tumor cells are selected during metastasis to the lungs: the role of the Fas pathway in the metastatic process of osteosarcoma, Mol Cancer Res, 5, 991, 10.1158/1541-7786.MCR-07-0007 Worth, 2002, Fas expression inversely correlates with metastatic potential in osteosarcoma cells, Oncol Rep, 9, 823 Li, 2006, Dkk1-mediated inhibition of Wnt signaling in bone results in osteopenia, Bone, 39, 754, 10.1016/j.bone.2006.03.017 Morvan, 2006, Deletion of a single allele of the Dkk1 gene leads to an increase in bone formation and bone mass, J Bone Miner Res, 21, 934, 10.1359/jbmr.060311 Kow, 2008, Impact of telomerase status on canine osteosarcoma patients, J Vet Intern Med, 22, 1366, 10.1111/j.1939-1676.2008.0175.x Sarver, 2022, Increased risk of cancer in dogs and humans: a consequence of recent extension of lifespan beyond evolutionarily determined limitations?, Aging and Cancer, 3, 3, 10.1002/aac2.12046 Castro-Mondragon, 2022, JASPAR 2022: the 9th release of the open-access database of transcription factor binding profiles, Nucleic Acids Res, 50, D165, 10.1093/nar/gkab1113 Cho, 2008, Killin is a p53-regulated nuclear inhibitor of DNA synthesis, Proc Natl Acad Sci, 105, 5396, 10.1073/pnas.0705410105 Koelsche, 2017, Histone 3.3 hotspot mutations in conventional osteosarcomas: a comprehensive clinical and molecular characterization of six H3F3A mutated cases, Clin Sarcoma Res, 7, 1, 10.1186/s13569-017-0075-5 Nizialek, 2015, KLLN epigenotype–phenotype associations in Cowden syndrome, Eur J Hum Genet, 23, 1538, 10.1038/ejhg.2015.8 Pilarski, 2013, Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria, J Natl Cancer Inst, 105, 1607, 10.1093/jnci/djt277 Zhou, 2019, Association between PTEN and clinical-pathological features of osteosarcoma, Biosci Rep, 39, 10.1042/BSR20190954 Scotlandi, 1995, Clinical relevance of Ki-67 expression in bone tumors, Cancer, 75, 806, 10.1002/1097-0142(19950201)75:3<806::AID-CNCR2820750310>3.0.CO;2-S Zeng, 2021, "The relationship between the expression of Ki-67 and the prognosis of osteosarcoma", BMC Cancer, 21, 1, 10.1186/s12885-021-07880-y Modiano, 2012, Inflammation, apoptosis, and necrosis induced by neoadjuvant fas ligand gene therapy improves survival of dogs with spontaneous bone cancer, Mol Ther, 20, 2234, 10.1038/mt.2012.149 Modiano, 2016, Fas ligand based immunotherapy: a potent and effective neoadjuvant with checkpoint inhibitor properties, or a systemically toxic promoter of tumor growth?, Discov Med, 21, 109 Marjon, 2016, MTAP deletions in cancer create vulnerability to targeting of the MAT2A/PRMT5/RIOK1 axis, Cell Rep, 15, 574, 10.1016/j.celrep.2016.03.043 Chiang, 2015, SpeedSeq: ultra-fast personal genome analysis and interpretation, Nat Methods, 12, 966, 10.1038/nmeth.3505 Koboldt, 2012, VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing, Genome Res, 22, 568, 10.1101/gr.129684.111 Li, 2009, The sequence alignment/map format and SAMtools, Bioinformatics, 25, 2078, 10.1093/bioinformatics/btp352 Kim, 2019, Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype, Nat Biotechnol, 37, 907, 10.1038/s41587-019-0201-4 Liao, 2014, "featureCounts: an efficient general purpose program for assigning sequence reads to genomic features", Bioinformatics, 30, 923, 10.1093/bioinformatics/btt656 Ihaka, 1996, R: a language for data analysis and graphics, J Comput Graph Statist, 5, 299