Pheochromocytomas and paragangliomas(together PPGLs)are rare neuroendocrine tumors arising from chromaffin cells located in the adrenal medulla and ganglia of the autonomic nervous system,respectively.Although paragan...Pheochromocytomas and paragangliomas(together PPGLs)are rare neuroendocrine tumors arising from chromaffin cells located in the adrenal medulla and ganglia of the autonomic nervous system,respectively.Although paragangliomas located in the head and neck region(HNPGLs)represent approximately 60%of all paragangliomas.展开更多
Neurofibromin 2(NF2)-related schwannomatosis(NF2-SWN)is an autosomal-dominant tumor predisposition syndrome.NF2-SWN patients develop multiple benign tumors of the nervous system,such as schwannomas,particularly bilate...Neurofibromin 2(NF2)-related schwannomatosis(NF2-SWN)is an autosomal-dominant tumor predisposition syndrome.NF2-SWN patients develop multiple benign tumors of the nervous system,such as schwannomas,particularly bilateral vestibular schwannomas,without current effective treatments.1 These tumors are caused by the bi-allelic inactivation of the NF2 gene,which encodes for merlin protein,in a cell of the Schwann cell(SC)lineage.展开更多
Dear Editor,Of all human tumors,pheochromocytomas and paragangliomas(PPGLs)have the highest heritability rate.Over 15%of PPGLs harbor mutations in genes encoding tricarboxylic acid(TCA)cycle-related enzymes that cause...Dear Editor,Of all human tumors,pheochromocytomas and paragangliomas(PPGLs)have the highest heritability rate.Over 15%of PPGLs harbor mutations in genes encoding tricarboxylic acid(TCA)cycle-related enzymes that cause oncometabolite accumulation and drive tumorigenesis via metabolic adaptation to hypoxia and global hypermethylation[1].The dihydrolipoamide S-succinyltransferase(DLST)gene was recently described as a new PPGL susceptibility gene[2].展开更多
基金supported by the Instituto de Salud Carlos III(ISCIII)through the“Accio′n Estrate′gica en Salud”(AES)(projects PI22_01490 to A.C.and PI20/01169 to M.R.)+2 种基金cofounded by the European Regional Development Fund(ERDF)by the Paradifference Foundation(no grant number applicable to M.R.)supported by the Spanish Ministry of Science,Innovation and Universities“Formacio′n del Profesorado Universitario-FPU”fellowship with ID number FPU19/04940.
文摘Pheochromocytomas and paragangliomas(together PPGLs)are rare neuroendocrine tumors arising from chromaffin cells located in the adrenal medulla and ganglia of the autonomic nervous system,respectively.Although paragangliomas located in the head and neck region(HNPGLs)represent approximately 60%of all paragangliomas.
基金funded by Chromo22the ISCIII(No.PI20/00215,PI23/00619)(Co-funded by the European Regional Development Fund“A way to make Europe”)+4 种基金AC22/00033,partner of the EJPRDThe EJPRD initiative has received funding from the European Union's Horizon 2020 research and innovation program under grant agreement No.825575funded also by FundacióLa Maratóde TV3(No.126/C/2020)the Children's Tumor Foundation(No.CTF-2019-05-005,CTF-2022-05-005)Fundación Proyecto Neurofibromatosis,and the Government of Catalonia(No.SGR-Cat 2021-00967).
文摘Neurofibromin 2(NF2)-related schwannomatosis(NF2-SWN)is an autosomal-dominant tumor predisposition syndrome.NF2-SWN patients develop multiple benign tumors of the nervous system,such as schwannomas,particularly bilateral vestibular schwannomas,without current effective treatments.1 These tumors are caused by the bi-allelic inactivation of the NF2 gene,which encodes for merlin protein,in a cell of the Schwann cell(SC)lineage.
基金supported by the Instituto de Salud CarlosⅢ(ISCⅢ)through the“Acción Estratégica en Salud”(AES)(projects PI18/00454 and PI22/01490 to A.C.and PI20/01169 to M.R.)cofounded by the European Regional Development Fund(ERDF)+1 种基金supported by the Spanish Ministry of Science,Innovation and Universities“Formación del Profesorado Universitario-FPU”fellowship with ID number FPU19/04940supported by‘la Caixa’Foundation(ID 100010434)under agreement LCF/BQ/PI20/11760011.
文摘Dear Editor,Of all human tumors,pheochromocytomas and paragangliomas(PPGLs)have the highest heritability rate.Over 15%of PPGLs harbor mutations in genes encoding tricarboxylic acid(TCA)cycle-related enzymes that cause oncometabolite accumulation and drive tumorigenesis via metabolic adaptation to hypoxia and global hypermethylation[1].The dihydrolipoamide S-succinyltransferase(DLST)gene was recently described as a new PPGL susceptibility gene[2].
