Редактирование: TMEM127 (раздел)

==Publications==

{{medline-entry
|title=Long-term prognosis of patients with pediatric pheochromocytoma.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/24169644
|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 <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<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. 
|mesh-terms=* Adolescent
* Adrenal Gland Neoplasms
* Child
* Child, Preschool
* DNA, Neoplasm
* Female
* Genetic Predisposition to Disease
* Germ-Line Mutation
* Humans
* Kaplan-Meier Estimate
* Life Expectancy
* Longitudinal Studies
* Male
* Paraganglioma
* Pheochromocytoma
* Sequence Analysis, DNA
|keywords=* germline mutations
* long-term follow-up
* pheochromocytoma
* relapse
|full-text-url=https://sci-hub.do/10.1530/ERC-13-0415
}}