EGAGenomicsCancer Genomicshttps://ega-archive.org/studies/EGAS00001007628EGAEGA study EGAS00001007628Characterisation of the genetic landscape of cutaneous leiomyoma and leiomyosarcoma - Leiomyosarcoma WESEGArestrictedWES., Epithelioid Leiomyosarcomas, Myxoid Leiomyosarcoma, Leiomyosarcomas, leiomyosarcoma - not uterine, malignant, leiomyosarcoma, Epithelioid Leiomyosarcoma, Leiomyosarcoma, Myxoid, leiomyosarcoma (excluding uterine leiomyosarcoma), Myxoid Leiomyosarcomas, EpithelioidForms, Epithelial Tissues, MGC130048, the integument, Materials, pelt, determination, Skn-li, firm, A4, Gene Expression Profile, "skin cancer" EXACT [CSP2005:2020-0536], "malignant neoplasm of skin NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188143008], Profiles, Cancer of Skin, Hair, cancer of skin, Epithelial Tissue, impenetrable, animal, IKKg, Hair Follicles, integumentum commune, KEY, Key, gamma sarcoglycan, thymus nucleic acid, Prognoses, Genomes, C1, Tissue, dermoid system, entire skin, outer epithelial layer, Myxoid, Signatures, genetic, Follicle, Expression Signature, leiomyosarcoma - not uterine, Fam91a1, Otf11, Transcriptomes, gamma-sarcoglycan, Allele, Double-Stranded DNA, deoxyribonucleic acids, associated, DNAn, Cancer of the Skin, AV220772, skin and subcutaneous tissue, Mesothelium, wide/broad, malignant neoplasm of skin, Follicles, sudoriferous gland, Expression Profiles, SG-gamma, familial, CA - skin cancer, Maps, "malignant neoplasm of skin, integumental organ, Double-Stranded, Sweat, (Deoxyribonucleotide)n+m, Gene Expression, DmIKKgamma, portion of epithelium, Gland, dIKK, Expression Signatures, BC033609, Kenny, Genetic Materials, Epithelioid Leiomyosarcoma, sarcoglycan, simple tissue, "melanoma and Non-melanoma skin cancer" EXACT [NCI2004_11_17:C2920], desoxyribose nucleic acid, Expression Profile, Genetic Material, Transcriptome Profiles, Factors, whole organism, Prognostic, IKK-gamma, Skin Cancer, whole genome, gamma (35kDa dystrophin-associated glycoprotein), mKIAA0493, Mesothelial Tissues, Atlases, Epithelioid Leiomyosarcomas, wide, vertebrate epidermis, DMDA, DmelCG16910, Material, 35kD dystrophin-associated glycoprotein, ds DNA, Koerper, Cistron, inherited genetic, entire integument, DNA, melanoma and Non-melanoma skin cancer, dermal system, hypoderm, Prognostic Factor, dermis plus epidermis plus hypodermis, whole exome, Allelomorphs, region of skin, SGCG_HUMAN, DNS, (Deoxyribonucleotide)n, Transcriptome Profile, Otf-11, Neoplasms, leiomyosarcoma, number, Gene, Prognostic Factors, broad, presence, TYPE, dIKK-gamma, Myxoid Leiomyosarcomas, Deoxyribonucleic acids, epidermis, DAGA4, Deoxyribonucleic Acid, tough, DmIKK-gamma, 35DAG, dmIKKgamma, Leiomyosarcoma, MAM, gamma-SG, IKK[[gamma]], SCG3, Skn-1a, Epithelial, Sweat Gland, Organization, Glands, Melanocyte, skin, Genetic, "malignant neoplasm of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:372130007], Tissues, Profile, Double Stranded, Deoxyribonucleic acid, leiomyosarcoma (excluding uterine leiomyosarcoma), SKIN, Allelomorph, skin organ, IKK, Mesothelial, epidermis (sensu Metazoa), (Deoxyribonucleotide)m, Skin Neoplasm, sudoriparous gland, constitutitional genetic, Methylations, Cancer, Oct-11a, Transcriptome, 35 kDa dystrophin-associated glycoprotein, body, malignant, DNAn+1, "malignant neoplasm of skin" EXACT [MTH:NOCODE], skin zone, whole body, Factor, World Health, hypodermis, Cistrons, Cell, SGCG, LGMD2C, WHO, whole transcriptome, IKKgamma, skin plus hypodermis, count in organism, Oct11, skin region, Myxoid Leiomyosarcoma, chemical analysis, Gene Expression Signatures, Neoplasm, Skin Cancers, Gene Expression Signature, Skin-1a, methylation, ds-DNA, tegument, Skin, Epithelioid., Epithelioid, skin benign neoplasm, Mesothelial Tissue, "CA - skin cancer" EXACT [SNOMEDCT_2005_07_31:363511009], folliculus pili, DMDA1, epithelial tissue, Dmikkgamma, Leiomyosarcomas, vertebrate integument, Cancers, CG16910, Epoc-1, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:190107001], portion of skin, integument, glandula sudorifera, Gene Expression Profiles, SCARMD2, cardinality, Desoxyribonukleinsaeure, assay, outer epidermal layer, Signature, hereditaryfalseDERMATLAS Leiomyosarcoma WESirtually no other tumour type is associated with so many different forms as skin cancer. Histologically, tumours of the skin may arise from epithelium, including epidermis, hair follicle, sebaceous or sweat gland, melanocytes, dermal-associated mesenchymal structures or tissue resident immune cells, making for a diversity of clinical presentations. Importantly, many skin tumour types have an extremely poor prognosis. Many skin tumour subtypes have never undergone molecular profiling, or if they have, targeted sequencing has been used and the number of cases analyzed has been so limited that deriving firm conclusions about the profile of driver genes, DNA mutational signatures and germline alleles has not been possible For 70 key skin tumour subtypes defined by the World Health Organization, that have not undergone extensive genetic analysis previoulsy, we propose to perform whole exome and transcriptome sequencing, from a range of body sites, to build a genomic atlas of dermatological tumours, including detailed maps of SNVs, copy number alterations, genome-wide methylation and expression profiles. The cases in this cohort are leiomyosarcomas.2024-06-11 16:58:44EGAS000010076289606EGAD00001014789EGAC00001000000