A Case of Metastatic Giant Cell Tumor of Soft Tissue of the Orbit Associated With PALB2 Variant.

Szczegóły

Tytuł:: A Case of Metastatic Giant Cell Tumor of Soft Tissue of the Orbit Associated With PALB2 Variant.
Autorzy:: Rajaii F; Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Aronow ME; Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Retina Service, Massachusetts Eye and Ear, Harvard Medical School, Boston.
Campbell AA; Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Boahene KDO; Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Gallia GL; Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Rodriguez FJ; Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Źródło:: JAMA ophthalmology [JAMA Ophthalmol] 2020 Dec 01; Vol. 138 (12), pp. 1322-1324.
Typ publikacji:: Case Reports; Journal Article
Język:: English
Imprint Name(s):: Original Publication: Chicago, IL : American Medical Association, [2013]-
MeSH Terms:: Mutation*
Fanconi Anemia Complementation Group N Protein/*genetics
Giant Cell Tumors/*secondary
Orbit/*pathology
Orbital Neoplasms/*genetics
Soft Tissue Neoplasms/*diagnosis
Adult ; Biopsy ; DNA Mutational Analysis ; DNA, Neoplasm/analysis ; Fanconi Anemia Complementation Group N Protein/metabolism ; Female ; Giant Cell Tumors/diagnosis ; Giant Cell Tumors/metabolism ; Humans ; Magnetic Resonance Imaging ; Neoplasm Metastasis ; Orbital Neoplasms/metabolism ; Orbital Neoplasms/pathology ; Soft Tissue Neoplasms/genetics ; Soft Tissue Neoplasms/metabolism
Substance Nomenclature:: 0 (DNA, Neoplasm)
0 (Fanconi Anemia Complementation Group N Protein)
0 (PALB2 protein, human)
Entry Date(s):: Date Created: 20201022 Date Completed: 20210222 Latest Revision: 20210222
Update Code:: 20240105
DOI:: 10.1001/jamaophthalmol.2020.4308
PMID:: 33090178
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