TY  - GEN
AU  - Mellid, Sara
AU  - Gil, Eduardo
AU  - Letón, Rocío
AU  - Caleiras, Eduardo
AU  - Honrado, Emiliano
AU  - Richter, Susan
AU  - Palacios, Nuria
AU  - Lahera, Marcos
AU  - Galofré, Juan C
AU  - López-Fernández, Adriá
AU  - Calatayud, Maria
AU  - Herrera-Martínez, Aura D
AU  - Galvez, María A
AU  - Matias-Guiu, Xavier
AU  - Balbín, Milagros
AU  - Korpershoek, Esther
AU  - Lim, Eugénie S
AU  - Maletta, Francesca
AU  - Lider, Sofia
AU  - Fliedner, Stephanie M J
AU  - Bechmann, Nicole
AU  - Eisenhofer, Graeme
AU  - Canu, Letizia
AU  - Rapizzi, Elena
AU  - Bancos, Irina
AU  - Robledo Batanero, Mercedes
AU  - Cascon Soriano, Alberto
PY  - 2022
UR  - https://hdl.handle.net/20.500.12105/26049
AB  - The percentage of patients diagnosed with pheochromocytoma and paraganglioma (altogether PPGL) carrying known germline mutations in one of the over fifteen susceptibility genes identified to date has dramatically increased during the last two decades,...
AB  - Herein we uncover several cases with dual mutations in NF1 and other PPGL genes by targeted sequencing. We studied the molecular characteristics of the tumours with co-occurrent mutations, using omic tools to gain insight into the role of these events...
AB  - Amongst 23 patients carrying germline NF1 mutations, targeted sequencing revealed additional pathogenic germline variants in DLST (n=1) and MDH2 (n=2), and two somatic mutations in H3-3A and PRKAR1A. Three additional patients, with somatic mutations...
AB  - In conclusion, mutations affecting genes involved in different pathways (pseudohypoxic and receptor tyrosine kinase signalling) co-occurring in the same patient could provide a selective advantage for the development of PPGL, and explain the variable...
LA  - eng
PB  - Frontiers
KW  - DLST
KW  - MDH2
KW  - NF1
KW  - co-occurrent mutations
KW  - germline mutation
KW  - pheochromocytoma
TI  - Co-occurrence of mutations in  and other susceptibility genes in pheochromocytoma and paraganglioma.
TY  - research article
ER  -