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- 1. 頚部腫瘤の鑑別診断 differential diagnosis of a neck mass
- 2. 副腎の外科解剖学 surgical anatomy of the adrenal glands
- 3. 神経芽細胞腫の臨床所見、診断、および病期分類評価 clinical presentation diagnosis and staging evaluation of neuroblastoma
- 4. 副腎皮質腺腫の治療 treatment of adrenocortical adenomas
- 5. 神経系および行動に及ぼすステロイドの作用 glucocorticoid effects on the nervous system and behavior
English Journal
- Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis.
- Comino-Méndez I, de Cubas AA, Bernal C, Alvarez-Escolá C, Sánchez-Malo C, Ramírez-Tortosa CL, Pedrinaci S, Rapizzi E, Ercolino T, Bernini G, Bacca A, Letón R, Pita G, Alonso MR, Leandro-García LJ, Gómez-Graña A, Inglada-Pérez L, Mancikova V, Rodríguez-Antona C, Mannelli M, Robledo M, Cascón A.AbstractPheochromocytomas (PCCs) and paragangliomas (PGLs) are chromaffin-cell tumors that arise from the adrenal medulla and extra-adrenal paraganglia, respectively. The dysfunction of genes involved in the cellular response to hypoxia, such as VHL, EGL nine homolog 1, and the succinate dehydrogenase (SDH) genes, leads to a direct abrogation of hypoxia inducible factor (HIF) degradation, resulting in a pseudo-hypoxic state implicated in PCC/PGL development. Recently, somatic post-zygotic mutations in EPAS1 (HIF2A) have been found in patients with multiple PGLs and congenital erythrocytosis. We assessed 41 PCCs/PGLs for mutations in EPAS1 and herein describe the clinical, molecular and genetic characteristics of the 7 patients found to carry somatic EPAS1 mutations; 4 presented with multiple PGLs (3 of them also had congenital erythrocytosis), whereas 3 were single sporadic PCC/PGL cases. Gene expression analysis of EPAS1-mutated tumors revealed similar mRNA EPAS1 levels to those found in SDH-gene- and VHL-mutated cases and a significant up-regulation of two hypoxia-induced genes (PCSK6 and GNA14). Interestingly, single nucleotide polymorphism array analysis revealed an exclusive gain of chromosome 2p in three EPAS1-mutated tumors. Furthermore, multiplex-PCR screening for small rearrangements detected a specific EPAS1 gain in another EPAS1-mutated tumor and in three non-EPAS1-mutated cases. The finding that EPAS1 is involved in the sporadic presentation of the disease not only increases the percentage of PCCs/PGLs with known driver mutations, but also highlights the relevance of studying other hypoxia-related genes in apparently sporadic tumors. Finally, the detection of a specific copy number alteration affecting chromosome 2p in EPAS1-mutated tumors may guide the genetic diagnosis of patients with this disease.
- Human molecular genetics.Hum Mol Genet.2013 Jun 1;22(11):2169-76. doi: 10.1093/hmg/ddt069. Epub 2013 Feb 14.
- Pheochromocytomas (PCCs) and paragangliomas (PGLs) are chromaffin-cell tumors that arise from the adrenal medulla and extra-adrenal paraganglia, respectively. The dysfunction of genes involved in the cellular response to hypoxia, such as VHL, EGL nine homolog 1, and the succinate dehydrogenase (SDH)
- PMID 23418310
- Urinary free (unconjugated) metadrenalines in different hereditary forms of catecholamine-secreting phaeochromocytoma/paraganglioma.
- Davidson DF, Bradshaw N, Perry CG, Lindsay R, Freel EM.SourceBiochemistry Department, University Hospital Crosshouse, Kilmarnock KA2 0BE, UK. fraser.davidson@aaaht.scot.nhs.uk
- Annals of clinical biochemistry.Ann Clin Biochem.2012 Sep;49(Pt 5):486-90. doi: 10.1258/acb.2012.012021. Epub 2012 Aug 22.
- BACKGROUND: Catecholamine-producing neuroendocrine tumours are found in chromaffin cells of the adrenal medulla (phaeochromocytoma) or extra-adrenal paraganglia (paraganglioma), known collectively as PPGLs. In approximately a quarter or more of cases of PPGL, these rare tumours arise as a result of
- PMID 22914444
- Malignant paraganglioma of the mesentery: a case report and review of literature.
- Chetrit M, Dubé P, Royal V, Leblanc G, Sideris L.SourceDepartment of Surgery, Maisonneuve-Rosemont Hospital, University of Montreal, Montreal, Canada.
- World journal of surgical oncology.World J Surg Oncol.2012 Feb 23;10:46. doi: 10.1186/1477-7819-10-46.
- Paragangliomas represent only 10% of chromaffin tissue tumors and those arising from the mesentery seem to be a rare occurrence. We report a case of a 55 year old man in whom an abdominal mass was discovered fortuitously by ultrasonography during a routine health exam. He presented occasional heart
- PMID 22360863
Japanese Journal
- CHANGES IN FETO-MATERNAL PLASMA CONCENTRATIONS OF CATECHOLAMINE, CORTISOL, ALDOSTERONE AND INSULIN FOLLOWING THE STRESS OF LABOR. THEIR RELATIONS TO CARDIOTOCOGRAPHIC AND UMBILICAL CORD BLOOD BIOCHEMICAL PARAMETERS
- Kaneoka Tsuyoshi,Shirakawa Koichi
- 日本産科婦人科學會雜誌 31(3), 343-352, 1979-03-01
- 50例のhigh-risk妊娠において分娩中胎児心拍陣痛図(CTG)の記録,胎児心機図(MCG)の計測を行ったのち,分娩の直後に母体末梢静脈および膀帯静脈血を採取して血漿カテコラミン,コーチゾル,アノレドステロン,インシュリン濃度を測定すると同時に,膀帯動脈血生化学値の測定を行った.血漿カテコラミン値は高速液体クロマトグラフィーを用いたTHI法で測定した.その結果,平均胎児血漿ノルニピネフリソ(N …
- NAID 110002119724
Related Links
- Chromaffin paraganglia information including symptoms, causes, diseases, symptoms, treatments, and other medical and health issues. ... Introduction: Chromaffin paraganglia Description of Chromaffin paraganglia Chromaffin ...
- Paraganglia, Chromaffin. On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or a full patient history. A similarity measure between symptoms and diseases is provided.
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| リンク元 | 「クロム親和性傍神経節」 |
| 拡張検索 | 「nonchromaffin paraganglia」 |
| 関連記事 | 「paraganglia」「chromaffin」 |
「クロム親和性傍神経節」
「nonchromaffin paraganglia」
「paraganglia」
「chromaffin」
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