https://transhumanist.ru/index.php?action=history&feed=atom&title=TMEM127 2026-06-14T13:44:55Z История изменений этой страницы в вики MediaWiki 1.43.6 https://transhumanist.ru/index.php?title=TMEM127&diff=4030&oldid=prev 2021-04-29T18:57:13Z

<p>Новая страница: «Transmembrane protein 127 ==Publications== {{medline-entry |title=Long-term prognosis of patients with pediatric pheochromocytoma. |pubmed-url=https://pubmed.nc...»</p> <p><b>Новая страница</b></p><div>Transmembrane protein 127<br /> <br /> ==Publications==<br /> <br /> {{medline-entry<br /> |title=Long-term prognosis of patients with pediatric pheochromocytoma.<br /> |pubmed-url=https://pubmed.ncbi.nlm.nih.gov/24169644<br /> |abstract=A third of patients with paraganglial tumors, pheochromocytoma, and paraganglioma, carry germline mutations in one of the susceptibility genes, [[RET]], [[VHL]], [[NF1]], [[SDHA]]F2, [[SDHA]], [[SDHB]], [[SDHC]], [[SDHD]], [[TMEM127]], and [[MAX]]. Despite increasing importance, data for long-term prognosis are scarce in pediatric presentations. The European-American-Pheochromocytoma-Paraganglioma-Registry, with a total of 2001 patients with confirmed paraganglial tumors, was the platform for this study. Molecular genetic and phenotypic classification and assessment of gene-specific long-term outcome with second and/or malignant paraganglial tumors and life expectancy were performed in patients diagnosed at &lt;18 years. Of 177 eligible registrants, 80% had mutations, 49% [[VHL]], 15% [[SDHB]], 10% [[SDHD]], 4% [[NF1]], and one patient each in [[RET]], [[SDHA]], and [[SDHC]]. A second primary paraganglial tumor developed in 38% with increasing frequency over time, reaching 50% at 30 years after initial diagnosis. Their prevalence was associated with hereditary disease (P=0.001), particularly in [[VHL]] and [[SDHD]] mutation carriers ([[VHL]] vs others, P=0.001 and [[SDHD]] vs others, P=0.042). A total of 16 (9%) patients with hereditary disease had malignant tumors, ten at initial diagnosis and another six during follow-up. The highest prevalence was associated with [[SDHB]] ([[SDHB]] vs others, P&lt;0.001). Eight patients died (5%), all of whom had germline mutations. Mean life expectancy was 62 years with hereditary disease. Hereditary disease and the underlying germline mutation define the long-term prognosis of pediatric patients in terms of prevalence and time of second primaries, malignant transformation, and survival. Based on these data, gene-adjusted, specific surveillance guidelines can help effective preventive medicine. <br /> |mesh-terms=* Adolescent<br /> * Adrenal Gland Neoplasms<br /> * Child<br /> * Child, Preschool<br /> * DNA, Neoplasm<br /> * Female<br /> * Genetic Predisposition to Disease<br /> * Germ-Line Mutation<br /> * Humans<br /> * Kaplan-Meier Estimate<br /> * Life Expectancy<br /> * Longitudinal Studies<br /> * Male<br /> * Paraganglioma<br /> * Pheochromocytoma<br /> * Sequence Analysis, DNA<br /> |keywords=* germline mutations<br /> * long-term follow-up<br /> * pheochromocytoma<br /> * relapse<br /> |full-text-url=https://sci-hub.do/10.1530/ERC-13-0415<br /> }}</div>

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