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An overview of BAP1 biological functions and current therapeutics.
Biochim Biophys Acta Rev Cancer
January 2025
Havener Eye Institute, Department of Ophthalmology and Visual Science, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA; Division of Human Genetics, Department of Internal Medicine, The Ohio State University Columbus, OH 43210, USA. Electronic address:
BRCA1-associated protein 1 (BAP1) is a tumor suppressor gene that was first identified in 1998. Germline loss of functional variants in BAP1 is associated with a tumor predisposition syndrome with at least four cancers; uveal melanoma (UM), malignant mesothelioma (MMe), renal cell carcinoma (RCC), and cutaneous melanoma (CM). Furthermore, somatic BAP1 mutations are important drivers for several cancers most notably UM, MMe, RCC, intrahepatic cholangiocarcinoma (ICC) and hepatocellular carcinoma (HCC).
View Article and Find Full Text PDFAnterior Uveitis and Uveal Depigmentation in a Dog With Vitiligo.
Case Rep Vet Med
January 2025
Department of Population Medicine and Diagnostic Sciences, College of Veterinary Medicine, Cornell University, Ithaca, New York, USA.
The objective of this study is to describe the clinical and histologic features of a dog that developed anterior uveitis and uveal depigmentation in association with vitiligo. A 3-year-old, female-spayed, Bernese Mountain Dog with a history of bilateral idiopathic anterior uveitis developed iris depigmentation, leukotrichia, and skin depigmentation. The initial diagnostic evaluation for uveitis was unremarkable, including general bloodwork, urinalysis, infectious disease testing, thoracic radiographs, and abdominal ultrasound.
View Article and Find Full Text PDFActionable Gene Alterations Identified in Patients With Malignant Melanoma by Targeted Sequencing in Japan.
JCO Precis Oncol
January 2025
Department of Medical Oncology, Hokkaido University Hospital, Sapporo, Hokkaido, Japan.
Purpose: Precision medicine plays an important role in the treatment of patients with advanced melanoma. Despite its high incidence in White patients, advanced melanoma is rare in Asian countries, hampering prospective clinical trials targeting the Asian population. This retrospective study aimed to elucidate the real-world molecular diagnoses and outcomes of Japanese patients with melanoma using comprehensive genome profiling (CGP).
View Article and Find Full Text PDFLoss of NF1 accelerates uveal and intra-dermal melanoma tumorigenesis and oncogenic GNAQ transforms Schwann cells.
Cancer Res Commun
January 2025
University of British Columbia, Vancouver, BC, Canada.
NF1 encodes the multifunctional tumour suppressor protein, neurofibromin, which is best known for its causative role in Neurofibromatosis type 1 and in regulating MAPK signaling. Neurofibromin, in a context-specific manner, is involved in various tumorigenic processes, including those in melanocytes. This study investigated whether NF1 loss can collaborate with oncogenic GNAQ to promote melanoma in the dermis or eyes, where the G alpha q pathway is almost always activated.
View Article and Find Full Text PDFA case of cutaneous melanoma metastatic to the ciliary body and choroid with complete regression via systemic dual checkpoint inhibitor therapy.
BMC Ophthalmol
January 2025
Department of Surgery, St. Jude Children's Research Hospital, Memphis, TN, USA.
Background: Cutaneous melanoma is the leading cause of death from cutaneous malignancy and tends to metastasize lymphatically and hematogenously to the lung, liver, brain, and bone; it is a rare source of metastatic disease to the eye. Herein we provide a case report of cutaneous melanoma metastatic to the ciliary body and choroid involving clinical examination, slit lamp photography, and B-scan ultrasonography.
Result: A 55-year-old female with known metastatic cutaneous melanoma presented with pain, a large ciliochoroidal mass, visual decline, and diffuse intraocular inflammation.
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