Transcriptional signals of transformation in human cancer.


Journal

Genome medicine
ISSN: 1756-994X
Titre abrégé: Genome Med
Pays: England
ID NLM: 101475844

Informations de publication

Date de publication:
09 Jan 2024
Historique:
received: 23 01 2023
accepted: 18 12 2023
medline: 10 1 2024
pubmed: 10 1 2024
entrez: 9 1 2024
Statut: epublish

Résumé

As normal cells transform into cancers, their cell state changes, which may drive cancer cells into a stem-like or more primordial, foetal, or embryonic cell state. The transcriptomic profile of this final state may encode information about cancer's origin and how cancers relate to their normal cell counterparts. Here, we used single-cell atlases to study cancer transformation in transcriptional terms. We utilised bulk transcriptomes across a wide spectrum of adult and childhood cancers, using a previously established method to interrogate their relationship to normal cell states. We extend and validate these findings using single-cell cancer transcriptomes and organ-specific atlases of colorectal and liver cancer. Our bulk transcriptomic data reveals that adult cancers rarely return to an embryonic state, but that a foetal state is a near-universal feature of childhood cancers. This finding was confirmed with single-cell cancer transcriptomes. Our findings provide a nuanced picture of transformation in human cancer, indicating cancer-specific rather than universal patterns of transformation pervade adult epithelial cancers.

Sections du résumé

BACKGROUND BACKGROUND
As normal cells transform into cancers, their cell state changes, which may drive cancer cells into a stem-like or more primordial, foetal, or embryonic cell state. The transcriptomic profile of this final state may encode information about cancer's origin and how cancers relate to their normal cell counterparts.
METHODS METHODS
Here, we used single-cell atlases to study cancer transformation in transcriptional terms. We utilised bulk transcriptomes across a wide spectrum of adult and childhood cancers, using a previously established method to interrogate their relationship to normal cell states. We extend and validate these findings using single-cell cancer transcriptomes and organ-specific atlases of colorectal and liver cancer.
RESULTS RESULTS
Our bulk transcriptomic data reveals that adult cancers rarely return to an embryonic state, but that a foetal state is a near-universal feature of childhood cancers. This finding was confirmed with single-cell cancer transcriptomes.
CONCLUSIONS CONCLUSIONS
Our findings provide a nuanced picture of transformation in human cancer, indicating cancer-specific rather than universal patterns of transformation pervade adult epithelial cancers.

Identifiants

pubmed: 38195504
doi: 10.1186/s13073-023-01279-z
pii: 10.1186/s13073-023-01279-z
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

8

Subventions

Organisme : Wellcome Trust
ID : 220540/Z/20/A
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 223135/Z/21/Z
Pays : United Kingdom

Informations de copyright

© 2024. The Author(s).

Références

Miranda A, et al. Cancer stemness, intratumoral heterogeneity, and immune response across cancers. Proc Natl Acad Sci. 2019;116:9020–9.
doi: 10.1073/pnas.1818210116 pubmed: 30996127 pmcid: 6500180
Shi X, et al. Cancer stemness associated with prognosis and the efficacy of immunotherapy in adrenocortical carcinoma. Front Oncol. 2021; 11: 651622
Xiao L, et al. Alternative splicing associated with cancer stemness in kidney renal clear cell carcinoma. BMC Cancer. 2021;21:703.
doi: 10.1186/s12885-021-08470-8 pubmed: 34130646 pmcid: 8204412
Malta TM, et al. Machine learning identifies stemness features associated with oncogenic dedifferentiation. Cell. 2018;173:338-354.e15.
doi: 10.1016/j.cell.2018.03.034 pubmed: 29625051 pmcid: 5902191
AR, et al. The Human Cell Atlas. eLife. 2017; 6. https://pubmed.ncbi.nlm.nih.gov/29206104/ .
Young MD, et al. Single cell derived mRNA signals across human kidney tumors. Nat Commun. 2021;12:3896.
doi: 10.1038/s41467-021-23949-5 pubmed: 34162837 pmcid: 8222373
Molè MA, et al. A single cell characterisation of human embryogenesis identifies pluripotency transitions and putative anterior hypoblast centre. Nat Commun. 2021;12:3679.
doi: 10.1038/s41467-021-23758-w pubmed: 34140473 pmcid: 8211662
Tyser RCV, et al. Single-cell transcriptomic characterization of a gastrulating human embryo. Nature. 2021;600:285–9.
doi: 10.1038/s41586-021-04158-y pubmed: 34789876 pmcid: 7615353
XH, et al. Construction of a human cell landscape at single-cell level. Nature. 2020; 581. https://pubmed.ncbi.nlm.nih.gov/32214235/ .
The tabula sapiens consortium. The Tabula Sapiens: a multiple-organ, single-cell transcriptomic atlas of humans. Science. 2022; 376: eabl4896.
Downing JR, et al. The Pediatric Cancer Genome Project. Nat Genet. 2012;44:619–22.
doi: 10.1038/ng.2287 pubmed: 22641210 pmcid: 3619412
AB, PW, JCZ. SnapShot: TCGA-Analyzed Tumors. Cell. 2018;173. https://pubmed.ncbi.nlm.nih.gov/29625059/ .
Ho DW-H, et al. Single-cell RNA sequencing shows the immunosuppressive landscape and tumor heterogeneity of HBV-associated hepatocellular carcinoma. Nat Commun. 2021;12:3684.
doi: 10.1038/s41467-021-24010-1 pubmed: 34140495 pmcid: 8211687
Lee H-O, et al. Lineage-dependent gene expression programs influence the immune landscape of colorectal cancer. Nat Genet. 2020;52:594–603.
doi: 10.1038/s41588-020-0636-z pubmed: 32451460
Sekiguchi M, et al. Integrated multiomics analysis of hepatoblastoma unravels its heterogeneity and provides novel druggable targets. Npj Precis Oncol. 2020;4:1–12.
Druliner BR, et al. Early genetic aberrations in patients with sporadic colorectal cancer. Mol Carcinog. 2018;57:114–24.
doi: 10.1002/mc.22738 pubmed: 28926134
Hao Y, et al. Integrated analysis of multimodal single-cell data. Cell. 2021;184:3573-3587.e29.
doi: 10.1016/j.cell.2021.04.048 pubmed: 34062119 pmcid: 8238499
Collado-Torres L, et al. Reproducible RNA-seq analysis using recount2. Nat Biotechnol. 2017;35:319–21.
doi: 10.1038/nbt.3838 pubmed: 28398307 pmcid: 6742427
Patro R, Duggal G, Love MI, Irizarry RA, Kingsford C. Salmon provides fast and bias-aware quantification of transcript expression. Nat Methods. 2017;14:417–9.
doi: 10.1038/nmeth.4197 pubmed: 28263959 pmcid: 5600148
Young MD, et al. Single cell derived mRNA signals across human kidney tumors. Nat Commun. 2021;12:1–19.
doi: 10.1038/s41467-021-23949-5
Domínguez Conde C, et al. Cross-tissue immune cell analysis reveals tissue-specific features in humans. Science. 2022; 376: eabl5197.
Kagawa H, et al. Human blastoids model blastocyst development and implantation. Nature. 2022;601:600–5.
doi: 10.1038/s41586-021-04267-8 pubmed: 34856602
Bialecki ES, Di Bisceglie AM. Diagnosis of hepatocellular carcinoma. HPB. 2005;7:26–34.
doi: 10.1080/13651820410024049 pubmed: 18333158 pmcid: 2023919
Popescu D-M, et al. Decoding human fetal liver haematopoiesis. Nature. 2019;574:365–71.
doi: 10.1038/s41586-019-1652-y pubmed: 31597962 pmcid: 6861135
MacParland SA, et al. Single cell RNA sequencing of human liver reveals distinct intrahepatic macrophage populations. Nat Commun. 2018;9:4383.
doi: 10.1038/s41467-018-06318-7 pubmed: 30348985 pmcid: 6197289
Segal JM, et al. Single cell analysis of human foetal liver captures the transcriptional profile of hepatobiliary hybrid progenitors. Nat Commun. 2019;10:3350.
doi: 10.1038/s41467-019-11266-x pubmed: 31350390 pmcid: 6659636
Zhang J, et al. The threshold of alpha-fetoprotein (AFP) for the diagnosis of hepatocellular carcinoma: A systematic review and meta-analysis. PLoS ONE. 2020;15: e0228857.
doi: 10.1371/journal.pone.0228857 pubmed: 32053643 pmcid: 7018038
Barker N, et al. Crypt stem cells as the cells-of-origin of intestinal cancer. Nature. 2009;457:608–11.
doi: 10.1038/nature07602 pubmed: 19092804
Kildisiute G, Kalyva M, Elmentaite R, van Dongen S, Thevanesan C, Piapi A, Ambridge K, Prigmore E, Haniffa M, Teichmann SA, Straathof K, Cortés-Ciriano I, Behjati S, Young MD. Transcriptional signals of transformation in human cancer. EGAS00001002325, European Genome-Phenome Archive. 2023. https://ega-archive.org/studies/EGAS00001002325 .
Kildisiute G, Kalyva M, Elmentaite R, van Dongen S, Thevanesan C, Piapi A, Ambridge K, Prigmore E, Haniffa M, Teichmann SA, Straathof K, Cortés-Ciriano I, Behjati S, Young MD. Transcriptional signals of transformation in human cancer. github. 2023. https://github.com/constantAmateur/dediffPaperCode .

Auteurs

Gerda Kildisiute (G)

Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.

Maria Kalyva (M)

EMBL-EBI, Wellcome Genome Campus, Hinxton, Cambridge, UK.

Rasa Elmentaite (R)

Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.

Stijn van Dongen (S)

Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.

Christine Thevanesan (C)

University College London Cancer Institute and Great Ormond Street Biomedical Research Centre, London, UK.

Alice Piapi (A)

University College London Cancer Institute and Great Ormond Street Biomedical Research Centre, London, UK.

Kirsty Ambridge (K)

Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.

Elena Prigmore (E)

Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.

Muzlifah Haniffa (M)

Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.
Biosciences Institute and Newcastle NIHR-BRC Dermatology, Newcastle University, Newcastle Upon Tyne, UK.

Sarah A Teichmann (SA)

Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.
Cavendish Laboratory, University of Cambridge, JJ Thomson Ave, Cambridge, UK.

Karin Straathof (K)

University College London Cancer Institute and Great Ormond Street Biomedical Research Centre, London, UK.

Isidro Cortés-Ciriano (I)

EMBL-EBI, Wellcome Genome Campus, Hinxton, Cambridge, UK. icortes@ebi.ac.uk.

Sam Behjati (S)

Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK. sb31@sanger.ac.uk.
Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK. sb31@sanger.ac.uk.
Department of Paediatrics, University of Cambridge, Cambridge, UK. sb31@sanger.ac.uk.

Matthew D Young (MD)

Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK. my4@sanger.ac.uk.

Classifications MeSH