Search Results - EGA European Genome-Phenome Archive

Characterisation of the genetic landscape of cutaneous leiomyoma and leiomyosarcoma - Leiomyoma WES

Cutaneous leiomyoma (cLM) and leiomyosarcoma (cLMS) are rare benign and malignant soft tissue neoplasms showing smooth muscle differentiation, respectively, that arise from mesenchymal cells in the dermis and subcutis. Through whole exome sequencing of cLM and cLMS cases, we observed distinct differences between the somatic mutational profile of these tumour types. FH was identified as a driver gene in cLM with genetic alterations of FH occurring via somatic point mutation, somatic copy number loss, biallelic inactivation and germline point mutations. TP53 and RB1 were identified as driver genes in the cLMS cohort, with genetic alterations of TP53 occurring via somatic and germline point mutations, copy number loss and biallelic inactivation. Using RNA-sequencing, we identified recurrent gene fusions, including CRTC1/3-MAML2 in cLMS and a novel MYLK-MAP3K2 fusion. Analysis of the cell types present in the tumour microenvironment revealed a significantly increased presence of macrophages and decreased presence of myeloid dendritic cells in the cLMS cohort relative to the cLM cohort. Additionally, we identified common driver genes between cLMS and LMS from other sites. Thus, we provide the first in-depth profile of the genetic landscape of cLM and cLMS.

Dataset EGAD00001014787

Characterisation of the genetic landscape of cutaneous leiomyoma and leiomyosarcoma - Leiomyoma RNA

Cutaneous leiomyoma (cLM) and leiomyosarcoma (cLMS) are rare benign and malignant soft tissue neoplasms showing smooth muscle differentiation, respectively, that arise from mesenchymal cells in the dermis and subcutis. Through whole exome sequencing of cLM and cLMS cases, we observed distinct differences between the somatic mutational profile of these tumour types. FH was identified as a driver gene in cLM with genetic alterations of FH occurring via somatic point mutation, somatic copy number loss, biallelic inactivation and germline point mutations. TP53 and RB1 were identified as driver genes in the cLMS cohort, with genetic alterations of TP53 occurring via somatic and germline point mutations, copy number loss and biallelic inactivation. Using RNA-sequencing, we identified recurrent gene fusions, including CRTC1/3-MAML2 in cLMS and a novel MYLK-MAP3K2 fusion. Analysis of the cell types present in the tumour microenvironment revealed a significantly increased presence of macrophages and decreased presence of myeloid dendritic cells in the cLMS cohort relative to the cLM cohort. Additionally, we identified common driver genes between cLMS and LMS from other sites. Thus, we provide the first in-depth profile of the genetic landscape of cLM and cLMS.

Dataset EGAD00001014788

Characterisation of the genetic landscape of cutaneous leiomyoma and leiomyosarcoma - Leiomyosarcoma WES

Cutaneous leiomyoma (cLM) and leiomyosarcoma (cLMS) are rare benign and malignant soft tissue neoplasms showing smooth muscle differentiation, respectively, that arise from mesenchymal cells in the dermis and subcutis. Through whole exome sequencing of cLM and cLMS cases, we observed distinct differences between the somatic mutational profile of these tumour types. FH was identified as a driver gene in cLM with genetic alterations of FH occurring via somatic point mutation, somatic copy number loss, biallelic inactivation and germline point mutations. TP53 and RB1 were identified as driver genes in the cLMS cohort, with genetic alterations of TP53 occurring via somatic and germline point mutations, copy number loss and biallelic inactivation. Using RNA-sequencing, we identified recurrent gene fusions, including CRTC1/3-MAML2 in cLMS and a novel MYLK-MAP3K2 fusion. Analysis of the cell types present in the tumour microenvironment revealed a significantly increased presence of macrophages and decreased presence of myeloid dendritic cells in the cLMS cohort relative to the cLM cohort. Additionally, we identified common driver genes between cLMS and LMS from other sites. Thus, we provide the first in-depth profile of the genetic landscape of cLM and cLMS.

Dataset EGAD00001014789

Characterisation of the genetic landscape of cutaneous leiomyoma and leiomyosarcoma - Leiomyosarcoma RNA

Cutaneous leiomyoma (cLM) and leiomyosarcoma (cLMS) are rare benign and malignant soft tissue neoplasms showing smooth muscle differentiation, respectively, that arise from mesenchymal cells in the dermis and subcutis. Through whole exome sequencing of cLM and cLMS cases, we observed distinct differences between the somatic mutational profile of these tumour types. FH was identified as a driver gene in cLM with genetic alterations of FH occurring via somatic point mutation, somatic copy number loss, biallelic inactivation and germline point mutations. TP53 and RB1 were identified as driver genes in the cLMS cohort, with genetic alterations of TP53 occurring via somatic and germline point mutations, copy number loss and biallelic inactivation. Using RNA-sequencing, we identified recurrent gene fusions, including CRTC1/3-MAML2 in cLMS and a novel MYLK-MAP3K2 fusion. Analysis of the cell types present in the tumour microenvironment revealed a significantly increased presence of macrophages and decreased presence of myeloid dendritic cells in the cLMS cohort relative to the cLM cohort. Additionally, we identified common driver genes between cLMS and LMS from other sites. Thus, we provide the first in-depth profile of the genetic landscape of cLM and cLMS.

Dataset EGAD00001014790

Amplicon Sequencing for 'Early evolutionary branching across spatial domains predisposes to clonal replacement under chemotherapy in neuroblastoma'

BAMs from deep sequencing using a custom panel for the study 'Early evolutionary branching across spatial domains predisposes to clonal replacement under chemotherapy in neuroblastoma'

Dataset EGAD00001015012

NOTCH1 fusion genes in pediatric T-cell lymphoblastic lymphoma hallmark a common high-risk subgroup with blood TARC levels as possible biomarker

T-cell lymphoblastic lymphoma (T-LBL) is a common pediatric malignancy accounting for approximately 20% of the non-Hodgkin lymphomas during childhood. Survival rates of T-LBL are ~80%, but outcome after relapse is dismal, with salvage rates reaching only ~15. Considering the extremely poor prognosis after relapse and absence of clinically relevant high-risk genetics, there is an urgent need for the identification of molecular risk factors and new prognostic biomarkers in T-LBL, as well as identification of new therapeutic strategies. In this study we present a novel entity of high-risk pediatric T-LBL patients characterized by previously unknown NOTCH1 gene fusions and highly elevated blood TARC levels

Dataset EGAD00001015255

5495 results for "*oma"

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Characterisation of the genetic landscape of cutaneous leiomyoma and leiomyosarcoma - Leiomyoma WES

Characterisation of the genetic landscape of cutaneous leiomyoma and leiomyosarcoma - Leiomyoma RNA

Characterisation of the genetic landscape of cutaneous leiomyoma and leiomyosarcoma - Leiomyosarcoma WES

Characterisation of the genetic landscape of cutaneous leiomyoma and leiomyosarcoma - Leiomyosarcoma RNA

Amplicon Sequencing for 'Early evolutionary branching across spatial domains predisposes to clonal replacement under chemotherapy in neuroblastoma'

NOTCH1 fusion genes in pediatric T-cell lymphoblastic lymphoma hallmark a common high-risk subgroup with blood TARC levels as possible biomarker

Single-cell multiomics reveals the interplay of clonal evolution and cellular plasticity in hepatoblastoma

Genome and transcriptome sequence data from a infantile fibrosarcoma tumor patient

Genome and transcriptome sequence data from a neuroblastoma tumor patient

Genome and transcriptome sequence data from a neuroblastoma tumor patient

Genome and transcriptome sequence data from a CNS sarcoma tumor patient

Genome and transcriptome sequence data from a ocular melanoma tumor patient

Genome and transcriptome sequence data from a osteosarcoma tumor patient

Genome and transcriptome sequence data from a angiosarcoma tumor patient

Genome and transcriptome sequence data from a craniopharyngioma tumor patient

Genome and transcriptome sequence data from a papillary thyroid carcinoma tumor patient

Genome and transcriptome sequence data from a neuroblastoma tumor patient

Genome and transcriptome sequence data from a osteosarcoma tumor patient

Genome and transcriptome sequence data from a pineoblastoma tumor patient

Genome and transcriptome sequence data from a multifocal glioblastoma multiforme tumor patient

Genome and transcriptome sequence data from a progressive facial plexiform neurofibroma tumor patient

Genome and transcriptome sequence data from a plexiform neurofibroma tumor patient

Genome and transcriptome sequence data from a diffuse intrinsic pontine glioma tumor patient

Genome and transcriptome sequence data from a ewing sarcoma tumor patient

Genome and transcriptome sequence data from a ependymoma tumor patient

Genome and transcriptome sequence data from a glioblastoma tumor patient

Genome and transcriptome sequence data from a NUT midline carcinoma tumor patient

Genome and transcriptome sequence data from a angiosarcoma tumor patient

Genome and transcriptome sequence data from a gliomatosis cerebri anaplastic astrocytoma tumor patient

Genome and transcriptome sequence data from a osteosarcoma tumor patient

Genome and transcriptome sequence data from a neuroblastoma tumor patient

Genome and transcriptome sequence data from a metastatic alveolar rhabdomyosarcoma tumor patient

Genome and transcriptome sequence data from a neuroblastoma tumor patient

Genome and transcriptome sequence data from a minimally invasive adenocarcinoma tumor patient

Genome and transcriptome sequence data from a glioblastoma tumor patient

Genome and transcriptome sequence data from a neuroblastoma tumor patient

Genome and transcriptome sequence data from a papillary thyroid carcinoma tumor patient

Genome and transcriptome sequence data from a plexiform neurofibroma tumor patient

Genome and transcriptome sequence data from a metastatic osteosarcoma tumor patient

Genome and transcriptome sequence data from a embryonal rhabdomyosarcoma of the nasopharynx tumor patient

Genome and transcriptome sequence data from a diffuse aarge B-cell lymphoma (relapse) tumor patient

Genome and transcriptome sequence data from a neuroblastoma tumor patient

Genome and transcriptome sequence data from a relapsed osteosarcoma tumor patient

Genome and transcriptome sequence data from a synovial sarcoma tumor patient

Genome and transcriptome sequence data from a recurrence nasopharyngeal rhabdomyosarcoma tumor patient

Genome and transcriptome sequence data from a ewing sarcoma tumor patient

Genome and transcriptome sequence data from a osteosarcoma tumor patient

Genome and transcriptome sequence data from a rhabdomyosarcoma, alveolar tumor patient

Genome and transcriptome sequence data from a anaplastic astrocytoma tumor patient

Genome and transcriptome sequence data from a choroid plexus carcinoma tumor patient