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].
