Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0677930 (primary tumor)
 20,210 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Report on a rare case of an iris-ringmelanoma. Arising from the iris base the primary tumor spread in a continuous line along the anterior chamber angle and a shedding of tumor cells in other places of the iris surface could be stated as well. A unilateral dark spotted colouring of the iris with a secondary glaucoma was clinically observed. Gonioscopy, diaphanoscopy, 32P-test, and iris fluorescence-angiography aided the diagnosis. Fluorescence angiography appears to be of particular value in the diagnosis of malignant melanoma of the iris: The peculiar filling pattern seen at the pupillary border of the tumor has up to now only been found in malignant processes of the anterior uvea. The clinical tentative diagnosis of malignant ringmelanoma of the iris, could histopathologically be verified.
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PMID:[The clinical picture, fluorescence angiography and histologie of a ringmelanoma of the iris (author's transl)]. 96 70

Metastatic carcinomata in the anterior uvea are rare. Some of them may be diagnosed before the primary tumor is clinically detected. We report on three such cases. The vast majority of secondaries in the anterior uvea have their primary in the bronchus. It is rather exceptional that a metastasis in the anterior chamber can be traced to an eosophageal carcinoma as in one of our cases.
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PMID:[Metastatic carcinomata in the anterior uvea as the presenting clinical manifestation (author's transl)]. 745 40

Primary melanocytic neoplasms of the central nervous system (CNS) are uncommon neoplasms derived from melanocytes that normally can be found in the leptomeninges. They cover a spectrum of malignancy grades ranging from low-grade melanocytomas to lesions of intermediate malignancy and overtly malignant melanomas. Characteristic genetic alterations in this group of neoplasms have not yet been identified. Using direct sequencing, we investigated 19 primary melanocytic lesions of the CNS (12 melanocytomas, 3 intermediate-grade melanocytomas, and 4 melanomas) for hotspot oncogenic mutations commonly found in melanocytic tumors of the skin (BRAF, NRAS, and HRAS genes) and uvea (GNAQ gene). Somatic mutations in the GNAQ gene at codon 209, resulting in constitutive activation of GNAQ, were detected in 7/19 (37%) tumors, including 6/12 melanocytomas, 0/3 intermediate-grade melanocytomas, and 1/4 melanomas. These GNAQ-mutated tumors were predominantly located around the spinal cord (6/7). One melanoma carried a BRAF point mutation that is frequently found in cutaneous melanomas (c.1799 T>A, p.V600E), raising the question whether this is a metastatic rather than a primary tumor. No HRAS or NRAS mutations were detected. We conclude that somatic mutations in the GNAQ gene at codon 209 are a frequent event in primary melanocytic neoplasms of the CNS. This finding provides new insight in the pathogenesis of these lesions and suggests that GNAQ-dependent mitogen-activated kinase signaling is a promising therapeutic target in these tumors. The prognostic and predictive value of GNAQ mutations in primary melanocytic lesions of the CNS needs to be determined in future studies.
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PMID:Activating mutations of the GNAQ gene: a frequent event in primary melanocytic neoplasms of the central nervous system. 1993 69

The classical model of metastasis is that tumor cell dissemination occurs late in tumor development, after the primary tumor has grown, and that only then will tumor cells invade the local tissue, enter the blood or lymphatic vessels, and colonize new sites to cause metastases. However, evidence increasingly indicates that single tumor cells spread to distant sites much earlier than previously believed. In this issue of the JCI, Eyles and colleagues provide new insight into the mechanisms underlying early tumor cell dissemination, formation of metastases, and tumor immunosurveillance using transgenic mice that spontaneously develop melanomas of the uvea. The authors provide striking evidence that tumor cells start to disseminate during the initial steps of tumor development, that late appearing metastases arise from these early disseminated tumor cells, and that CD8+ T cells inhibit the growth of disseminated tumor cells, surprisingly, not by cytotoxic effects, but through cytostatic effects.
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PMID:Early tumor dissemination, but late metastasis: insights into tumor dormancy. 2050 44