Malignant Peripheral Nerve Sheath Tumor in a Patient With BAP1 Tumor Predisposition Syndrome
作者: Megan C. KaszubaJose S. PulidoAndrew L. FolpePavel N. PichurinMcKinsey L. GoodenbergerRobert J. Spinner
作者单位: 1Department of Neurosurgery, Mayo Clinic, Rochester, Minnesota, USA
2Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA
3Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA
4Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA
刊名: World Neurosurgery, 2018, Vol.109 , pp.362-364
来源数据库: Elsevier Journal
DOI: 10.1016/j.wneu.2017.10.064
关键词: BAP1Malignant peripheral nerve sheath tumorPeripheral nerveTumor syndrome
英文摘要: Background(#br)Germline pathogenic variants in BRCA1-associated protein-1 (BAP1), a nuclear ubiquitin carboxy-terminal hydrolase with evidence suggestive of independent tumor suppressor function, predispose affected families to uveal melanoma, cutaneous melanoma, renal cell carcinoma, malignant mesothelioma, and possibly a range of other tumors and malignancies as part of the BAP1 tumor predisposition syndrome, a recently recognized hereditary cancer syndrome.(#br)Case Description(#br)A 50-year-old woman presented with a malignant peripheral nerve sheath tumor of the left fifth metatarsal head. Further examination revealed a right renal mass and left breast mass. Her family history was significant for astrocytoma, melanoma, cholangiocarcinoma, hepatocellular carcinoma, renal cell...
全文获取路径: Elsevier  (合作)
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影响因子:1.765 (2012)

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  • BAP Basic Assembler Program