BAP1 Immunostaining in Uveal Melanoma: Potentials and Pitfalls
نویسندگان
چکیده
منابع مشابه
A BAP1 Mutation in a Danish Family Predisposes to Uveal Melanoma and Other Cancers
Truncating germline mutations in the tumor suppressor gene BRCA-1 associated protein-1 (BAP1) have been reported in families predisposed to developing a wide range of different cancer types including uveal melanoma and cutaneous melanoma. There has also been an association between amelanotic tumor development and germline BAP1 mutation suggesting a possible phenotypic characteristic of BAP1 mut...
متن کاملClinical Characteristics of Uveal Melanoma in Patients With Germline BAP1 Mutations.
IMPORTANCE Somatic mutations in BAP1 (BRCA1-associated protein 1 gene) are frequently identified in uveal melanoma. To date, the role of germline BAP1 mutations in uveal melanoma has not been characterized. OBJECTIVE To characterize the clinical phenotype of uveal melanoma in patients with germline BAP1 mutations. DESIGN, SETTING, AND PARTICIPANTS Retrospective cohort study at an academic o...
متن کاملGermline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers.
OBJECTIVE To investigate the potential contribution of germline sequence alterations in the BAP1 gene in uveal melanoma (UM) patients with possible predisposition to hereditary cancer. DESIGN A total of 53 unrelated UM patients with high risk for hereditary cancer and five additional family members of one proband were studied. Mutational screening was carried out by direct sequencing. RESUL...
متن کاملPatterns of BAP1 protein expression provide insights into prognostic significance and the biology of uveal melanoma
Uveal melanoma (UM) is a rare aggressive intraocular tumour with a propensity for liver metastases, occurring in ∼50% of patients. The tumour suppressor BAP1 is considered to be key in UM progression. Herein, we present the largest study to date investigating cellular expression patterns of BAP1 protein in 165 UMs, correlating these patterns to prognosis. Full clinical, histological, genetic, a...
متن کاملUveal Melanoma
The eye’s uveal tract consists of the iris, ciliary body, and choroid. It contains a population of melanocytes. Uveal melanomas develop from melanocytes that reside within the stroma of the choroid, ciliary body or iris. The choroid is the vascular part of the human eye between retina and sclera. Though accurate measurements of the choroidal blood flow is difficult, it is known that choroid is ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Ocular Oncology and Pathology
سال: 2018
ISSN: 2296-4681,2296-4657
DOI: 10.1159/000486370