Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0079731 (B-cell lymphoma)
 16,671 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient with multiple endocrine neoplasia type 1 (MEN1) who manifested various MEN1-unrelated tumors was reported. The patient was a 43-year-old woman who manifested typical features of MEN1 including primary hyperparathyroidism, prolactinoma, adrenal adenoma and visceral lipomas. During the course, she also manifested chondrosarcoma, B cell lymphoma and mesothelioma. The patient had no apparent family history of MEN1 or any other neoplastic diseases. Genetic analysis of DNA from peripheral mononuclear cells of the patient revealed no germline mutations in MEN1 gene. Genetic instability due to yet unidentified cause is the possible explanation of occurrence of multiple tumors. Careful periodic screening of endocrine and other disorders for her siblings and children as well as for the patient is warranted.
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PMID:Multiple endocrine neoplasia type 1 with unusual concomitance of various neoplastic disorders. 1500 12

Pituitary adenoma is a common intracranial neoplasm that is observed in approximately 10% of unselected individuals at autopsy. Prolactin-producing adenomas, i.e., prolactinomas, comprise approximately 50% of all pituitary adenomas and represent the most common class of pituitary tumor. Multiple observations suggest that estrogens may contribute to development of prolactinoma; however, direct evidence for a causal role of estrogens in prolactinoma etiology is lacking. Rat models of estrogen-induced prolactinoma have been utilized extensively to identify the factors, pathways and processes that are involved in pituitary tumor development. The objective of this study was to localize to high resolution Ept7 (Estrogen-induced pituitary tumor), a quantitative trait locus (QTL) that controls lactotroph responsiveness to estrogens and was mapped to rat chromosome 7 (RNO7) in an intercross between BN and ACI rats. Data presented and discussed herein localize the Ept7 causal variant(s) to a 1.91 Mb interval of RNO7 that contains two protein coding genes, A1bg and Myc, and Pvt1, which yields multiple non-protein coding transcripts of unknown function. The Ept7 orthologous region in humans is located at 8q24.21 and has been linked in genome wide association studies to risk of 8 distinct epithelial cancers, including breast, ovarian, and endometrial cancers; 3 distinct types of B cell lymphoma; multiple inflammatory and autoimmune diseases; and orofacial cleft defects. In addition, the Ept7 locus in humans has been associated with variation in normal hematologic and development phenotypes, including height. Functional characterization of Ept7 should ultimately enhance our understanding of the genetic etiology of prolactinoma and these other diseases.
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PMID:Ept7, a quantitative trait locus that controls estrogen-induced pituitary lactotroph hyperplasia in rat, is orthologous to a locus in humans that has been associated with numerous cancer types and common diseases. 3026 Oct 14