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  • 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)
  • advances
  • 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)
  • blood
  • 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)
  • bednar
  • A final diagnosis of Bednar tumour was formulated. (hindawi.com)
  • Bednar tumour is a rare pigmented variant of dermatofibrosarcoma protuberans of intermediate malignant potential. (hindawi.com)
  • The presence of pigmented cells in Bednar tumour requires careful differential diagnosis with malignant or benign pigmented skin tumours. (hindawi.com)
  • The clinical history of a Bednar tumour developing close to the scar of a previous melanoma gives the opportunity of a critical and intriguing discussion about the potential origin of pigmented cells in this rare variant of dermatofibrosarcoma protuberans. (hindawi.com)
  • The latter, also called Bednar tumour (BT), differs from typical DFSP by the presence of characteristic melanin-pigmented dendritic cells. (hindawi.com)
  • 54 Bednar tumor is a rare variant of dermatofibrosarcoma protuberans (DFSP), a soft tissuesarcoma that develops in the deep layers of the skin. (malacards.org)
  • Bednar tumor is also known as pigmented DFSP because it contains dark-colored cells that give may give the tumor a multi-colored (i.e red and brown) appearance. (malacards.org)
  • The underlying cause of Bednar tumor is unknown. (malacards.org)
  • Bednar Tumor, also known as pigmented dermatofibrosarcoma protuberans , is related to dermatofibrosarcoma protuberans and ring chromosome 4 . (malacards.org)
  • An important gene associated with Bednar Tumor is PDGFB (Platelet Derived Growth Factor Subunit B), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers . (malacards.org)
  • Amelanotic
  • Comparative decreases in tyrosinase, TRP-1, TRP-2, and Pmel 17/silver antigenic proteins from melanotic to amelanotic stages of syngeneic mouse cutaneous melanomas and metastases. (thefreedictionary.com)
  • cerebral
  • Central nervous system changes occur as the lesions invade and destroy tissue, and, because the tumors compress the brain, cranial nerves, and cerebral blood vessels, the compression causes cerebral edema and increased intracranial pressure (ICP). (thefreedictionary.com)
  • Therefore, pons, cerebellum, cerebral peduncles, medulla oblongata, interpeduncular fossa, inferior surface of the temporal, frontal and occipital lobes are the most common areas involved in the development of pigmented intracranial primary tumors (8, 13). (upmc.edu)
  • bone
  • brown tumor a giant-cell granuloma produced in and replacing bone, occurring in osteitis fibrosa cystica and due to hyperparathyroidism. (thefreedictionary.com)
  • 2. a bone tumor, ranging from benign to frankly malignant, composed of cellular spindle cell stroma containing multinucleated giant cells resembling osteoclasts. (thefreedictionary.com)
  • In our case, there was no history of a current or prior melanotic skin lesion, and there was no other organ involvement on computed tomography imaging or bone scintigraphy scan. (thefreedictionary.com)
  • Clinical
  • Most clinical signs are due to the increased ICP, but signs and symptoms may vary due to the type of tumor, its location, and the degree and speed of invasion. (thefreedictionary.com)
  • In: Coffin CM, Dehner LP, O'Shea PA (eds) Pediatric soft tissue tumors: a clinical, pathological, and therapeutic approach. (springer.com)
  • MNTI
  • 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)