Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027627 (metastases)
 103,950 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pancreatic endocrine tumors (PETs) are primarily well-differentiated tumors composed of cells that resemble normal islet cells but that arise from pancreatic ductal cells. They are classified as functioning or nonfunctioning according to their associated clinical symptoms; insulinoma, gastrinoma, and glucagonoma are the most common functioning PETs. They also are classified according to their biologic behavior, although all PETs have malignant potential. Most are sporadic, but some are associated with familial syndromes such as multiple endocrine neoplasia type 1, von Hippel-Lindau syndrome, and neurofibromatosis type 1. At imaging, PETs typically appear as well-defined hypervascular masses, a finding indicative of their rich capillary network. Cystic change, calcification, and necrosis are common in large tumors, which are associated with a poorer prognosis and a higher prevalence of local and vascular invasion and metastases than are smaller tumors. Even when metastases are present, many well-differentiated PETs have an indolent course. Poorly differentiated PETs are rare and have an infiltrative appearance; patients with such tumors have a poor prognosis. Knowledge of the characteristic clinical, pathologic, and radiologic features of PETs is important in the evaluation and management of patients with a suspected clinical syndrome or a pancreatic mass.
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PMID:Pancreatic endocrine tumors: radiologic-clinicopathologic correlation. 2107 69

VHL gene is often inactivated in sporadic clear cell renal cancer (CCRC) due to somatic mutations, and it's germline mutations cause hereditary CCRC--von Hippel-Lindau syndrome. Localization of mutations in VHL, identification of new mutations and their influence on CCRC progression and sensitivity to targeted therapy are actual problems in modern oncogenetics. We have provided search and characterization of mutations in 248 primary CCRC using SSCP-analysis and sequencing. Somatic mutations were detected in 37.5% of samples, 72% of mutations were identified for the first time. New missense-mutations were analyzed by alignment programs and three-dimensional structure modeling. Mutation frequency was compared in different groups of patients in respect to stage, grade, and metastases. It was demonstrated that 39.1% samples with stage I harbor somatic mutations, however, no association with progression or metastases was found. We also have investigated localization of mutations in the VHL coding part and positions of missense-mutations and inframe deletions/insertions focusing on VHL critical sequences. VHL mutation analysis performed in this study improve the possibilities of laboratory diagnostics of familial and sporadic CCRC.
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PMID:[Localization of point mutations in the coding part of the VHL gene in clear cell renal cancer]. 2264 3

Pheochromocytomas are catecholamine-secreting tumors that arise from chromaffin cells of the sympathetic nervous system. In 80-85% of cases, these tumors are located in the adrenal medulla while the remainder is located in extra-adrenal chromaffin tissues (paragangliomas). Pheochromocytomas account for 6.5% of incidentally discovered adrenal tumors. These tumors may be sporadic or the result of several genetic diseases: multiple endocrine neoplasia type 2, von Hippel-Lindau syndrome, neurofibromatosis type 1, and familial paraganglioma associated with mutations in succinate dehydrogenase subunits. Diagnosis of pheochromocytoma should first be established biochemically by measuring plasma free metanephrines and urinary fractionated metanephrines. The radiological imaging tests of choice are computed tomography (CT) or magnetic resonance imaging (MRI). The first-line specific functional imaging test is scintigraphy with (123)I-metaiodobenzylguanidine (MIBG); if this test is unavailable, scintigraphy with (131)I-MIBG is the second choice. Positron emission tomography (PET) with (18)F-F-fluorodopamine (F-DA) is useful in metastatic disease. The treatment of choice is laparoscopic surgery after adequate alpha adrenergic blockade. Approximately 10% of tumors are malignant. Chemotherapy is used for inoperable disease. Prognosis is good except in malignant disease, in which 5-year survival is less than 50%. The identification of the genes causing hereditary pheochromocytoma has led to changes in the recommendation for genetic testing.
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PMID:Pheochromocytoma: diagnostic and therapeutic update. 2296 14

Pancreatic neuroendocrine tumors (PNETs) are uncommon pancreatic masses which arise from amine precursor and uptake decarboxylation cells. They are classified as functional or nonfunctional based on the associated clinical symptoms. Insulinomas and gastrinomas are the most common functional tumors. PNETs are also classified based on their biologic behavior as benign or malignant. While most PNETs are sporadic, a small percentage are associated with syndromes such as multiple endocrine neoplasia type 1, von Hippel-Lindau syndrome, and are usually multiple in those cases. On imaging, most PNETs are circumscribed and hypervascular masses; however, larger tumors are often heterogeneous. The presence of calcification, cystic degeneration, and necrosis increases the likelihood of malignancy and carries a poor prognosis. Metastases have similar imaging appearance to the primary lesion and are most commonly seen in the liver, locoregional lymph nodes, and bone. This article reviews the pathologic and radiologic features of pancreatic neuroendocrine tumors as well as imaging mimics and their distinguishing features.
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PMID:Multimodality Imaging of the Pancreatic Neuroendocrine Tumors. 3180 46


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