Understanding_the_multicellular_dynamics_of_clear_cell_renal_cell_carcinoma___single_cell_RNA_sequencing

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Dataset ID	Description	Technology	Samples
EGAD00001008030	The dataset comprises of 5' single cell RNA sequencing with TCR enrichment with 10x Genomics' Chromium technology of multiregional biopsies of human renal cell carcinomas. Biopsies from different tumour regions, the tumour-normal interface, normal kidney, normal adrenal, metastatic regions, peri-nephric fat, and peripheral blood were sequenced from 12 patients with kidney tumours.	Illumina HiSeq 4000 Illumina NovaSeq 6000	18
EGAD00001011647	Embryogenesis is a vulnerable time. Mutations in developmental cells can result in the seeding of cells predisposed to disease within mature organs, creating a field effect. We characterise an embryonic cancer mutation that drives multifocal, multiphenotypic renal tumours in a 14-year-old girl. Their shared MTOR mutation, absent from normal tissues, increases protein flexibility which enables a FAT domain hinge to dramatically increase mTORC1 activity. Developmental mutations, not usually detected in traditional genetic screening, have vital clinical importance in guiding prognosis, targeted treatment, and family screening decisions for paediatric tumours.	Illumina NovaSeq 6000	1

Publications	Citations
Mapping single-cell transcriptomes in the intra-tumoral and associated territories of kidney cancer. Li R, Ferdinand JR, Loudon KW, Bowyer GS, Laidlaw S, Muyas F, Mamanova L, Neves JB, Bolt L, Fasouli ES, Lawson ARJ, Young MD, Hooks Y, Oliver TRW, Butler TM, Armitage JN, Aho T, Riddick ACP, Gnanapragasam V, Welsh SJ, Meyer KB, Warren AY, Tran MGB, Stewart GD, Cortés-Ciriano I, Behjati S, Clatworthy MR, Campbell PJ, Teichmann SA, Mitchell TJ. Cancer Cell 40: 2022 1583-1599.e10	47
De novo detection of somatic mutations in high-throughput single-cell profiling data sets. Muyas F, Sauer CM, Valle-Inclán JE, Li R, Rahbari R, Mitchell TJ, Hormoz S, Cortés-Ciriano I. Nat Biotechnol 42: 2024 758-767	19
Targetable NOTCH1 rearrangements in reninoma. Treger TD, Lawrence JEG, Anderson ND, Coorens THH, Letunovska A, Abby E, Lee-Six H, Oliver TRW, Al-Saadi R, Tullus K, Morcrette G, Hutchinson JC, Rampling D, Sebire N, Pritchard-Jones K, Young MD, Mitchell TJ, Jones PH, Tran M, Behjati S, Chowdhury T. Nat Commun 14: 2023 5826	0
A pan-cancer single-cell transcriptional analysis of antigen-presenting cancer-associated fibroblasts in the tumor microenvironment. Chen J, Chen R, Huang J. Front Immunol 15: 2024 1372432	0
Multifocal, multiphenotypic tumours arising from an MTOR mutation acquired in early embryogenesis. Pacyna CN, Anandapadamanaban M, Loudon KW, Hay IM, Perisic O, Li R, Byrne M, Allen L, Roberts K, Hooks Y, Warren AY, Stewart GD, Clatworthy MR, Teichmann SA, Behjati S, Campbell PJ, Williams RL, Mitchell TJ. Oncogene 43: 2024 3268-3276	0