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  • mutation
  • 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)
  • 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)
  • rare
  • 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)
  • intracranial
  • 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)
  • However, the association of PPV with an intracranial tumor, especially a pigmented skull base tumor of the jugular foramen, has not been described to date. (upmc.edu)
  • 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)
  • Primary intracranial melanocytic tumors are occasionally associated with pigmented lesions of the skin (3). (upmc.edu)
  • bednar
  • Bednar tumour is a rare pigmented variant of dermatofibrosarcoma protuberans of intermediate malignant potential. (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)
  • congenital
  • Coffin CM, Dehner LP (1992) Congenital Tumors. (springer.com)
  • To date, NCM has been classified as a phacomatosis caused by congenital dysplasia of the neuroectodermal melanocyte precursors resulting in excessive (focal or diffuse) proliferation of melanin-producing cells in the skin and leptomeninges (3, 13). (upmc.edu)
  • group of tumors
  • Excluding hemangiomas and lymphangiomas, they are the leading group of tumors in infants overall and are second in frequency to teratoma in the newborn . (springer.com)
  • neoplasm
  • A neurilemmoma is a benign, usually encapsulated neoplasm derived from Schwann cells and, along with neurofibroma, constitutes one of the 2 most common benign peripheral nerve sheath tumors. (medscape.com)
  • neuroendocrine
  • less commonly, squamous cell carcinoma, melanoma, sarcoma, and neuroendocrine tumors can also present with a primary site of origin that cannot be determined. (uchile.cl)
  • Infant
  • Isaacs H Jr (2002) Tumors of the fetus and infant: an atlas. (springer.com)
  • Tidskr: Journal of Laryngology and Otology ISSN: 0022-2151 r: 1998 Volum: 112 Side(r): 61-64 Emneord: Melanotic neuroectodermal tumour, Infant, Maxilla Spr k: eng PublID: r99012528 StatKat: f LokalK: KAT 1 3 PublKat: D02 (Foredrag/poster ved vit. (uib.no)
  • lesion
  • This rare tumor should be suspected when T1-weighted images show signal hyperintensity and T2-weighted images show signal iso- or hypointensity, with mild contrast enhancement of the lesion. (ajnr.org)
  • The macroscopic aspect of the lesion was that of a malignant pigmented tumor. (ajnr.org)
  • The type of biopsy performed depends on the location, size, and nature of the lesion and on cosmetic considerations. (doctorlib.info)
  • When these results do not reveal signs of a potential primary lesion and the biopsy is not consistent with a primary tumor at the biopsy site, a CUP must be assumed. (uchile.cl)