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  • mutation
  • A germline mutation of CDKN2A and a novel RPLP1-C19MC fusion detected in a rare melanotic neuroectodermal tumor of infancy: a case report. (ox.ac.uk)
  • Whole-exome analysis of genomic DNA from both the tumor and blood indicated no somatic, non-synonymous coding mutations within the tumor, but a heterozygous, unique germline, loss of function mutation in CDKN2A (p16(INK4A), D74A). (ox.ac.uk)
  • A derived MNTI cell line was sensitive to inhibitors of lysine demethylase, but not to compounds targeting other epigenetic regulators.In the absence of somatic copy number variations or mutations, the fully transformed phenotype of the MNTI may have arisen in infancy because of the combined effects of a germline CDKN2A mutation, tumor promoting somatic fusion genes and epigenetic deregulation. (ox.ac.uk)
  • embryonal
  • Multiple chromosomal translocations were identified by RNA-Seq, and fusion genes included RPLP1-C19MC, potentially deregulating the C19MC cluster, an imprinted locus containing microRNA genes reactivated by gene fusion in embryonal tumors with multilayered rosettes. (ox.ac.uk)
  • gene
  • SNP-array CGH on DNA samples revealed the tumor to be euploid, with no detectable gene copy number variants. (ox.ac.uk)
  • primary
  • Exhaustive genomic, transcriptomic, epigenetic and pathological characterization was performed on the excised primary tumor and a derived cell line. (ox.ac.uk)
  • MNTI
  • Melanotic neuroectodermal tumor of infancy (MNTI) is exceptionally rare and occurs predominantly in the head and neck (92.8 % cases). (ox.ac.uk)
  • A derived MNTI cell line was sensitive to inhibitors of lysine demethylase, but not to compounds targeting other epigenetic regulators.In the absence of somatic copy number variations or mutations, the fully transformed phenotype of the MNTI may have arisen in infancy because of the combined effects of a germline CDKN2A mutation, tumor promoting somatic fusion genes and epigenetic deregulation. (ox.ac.uk)
  • Very little is known about the etiology of MNTI and this report advances knowledge of these rare tumors by providing the first comprehensive genomic, transcriptomic and epigenetic characterization of a case. (ox.ac.uk)
  • pathological
  • Exhaustive genomic, transcriptomic, epigenetic and pathological characterization was performed on the excised primary tumor and a derived cell line. (ox.ac.uk)
  • The objectives of the study were to analyze the tumor shrinkage pattern on magnetic resonance imaging (MRI) after neoadjuvant chemotherapy and to evaluate whether there is any difference in shrinkage pattern between pathological responder and nonresponder groups. (biomedsearch.com)
  • cell
  • Lymphomas are a group of malignant blood cell tumors that develop from lymphocytes. (jomfp.in)
  • Lymphomas are a group of malignant blood cell tumors that develop from lymphocytes representing 2.2% of all malignant neoplasms of the head and neck. (jomfp.in)
  • Diffuse large B-cell lymphomas (DLBCLs) are a heterogeneous group of tumor and the most common type of all non-Hodgkin's lymphomas (NHLs). (jomfp.in)
  • Among them, stem-like cells (hMB-SLCs) represent a fraction of the tumor cell population with the potential of self-renewal and proliferation and have been associated with tumor poor prognosis. (readbyqxmd.com)
  • human
  • TAM-induced malignant progression is reflected by a number of studies on various human tumor specimens that correlate overexpression of macrophage chemoattractants, as well as increased numbers of infiltrating macrophages, with worse prognoses. (feinsteininstitute.org)