49,256
edits
(→Epidemiology: +HLRCC) |
|||
| Line 62: | Line 62: | ||
*[[Carney-Stratakis syndrome]] - [[GIST]]s and paraganglioma.<ref>{{Cite journal | last1 = Blay | first1 = JY. | last2 = Blomqvist | first2 = C. | last3 = Bonvalot | first3 = S. | last4 = Boukovinas | first4 = I. | last5 = Casali | first5 = PG. | last6 = De Alava | first6 = E. | last7 = Dei Tos | first7 = AP. | last8 = Dirksen | first8 = U. | last9 = Duffaud | first9 = F. | title = Gastrointestinal stromal tumors: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. | journal = Ann Oncol | volume = 23 Suppl 7 | issue = | pages = vii49-55 | month = Oct | year = 2012 | doi = 10.1093/annonc/mds252 | PMID = 22997454 | url = http://annonc.oxfordjournals.org/content/23/suppl_7/vii49.full }}</ref> | *[[Carney-Stratakis syndrome]] - [[GIST]]s and paraganglioma.<ref>{{Cite journal | last1 = Blay | first1 = JY. | last2 = Blomqvist | first2 = C. | last3 = Bonvalot | first3 = S. | last4 = Boukovinas | first4 = I. | last5 = Casali | first5 = PG. | last6 = De Alava | first6 = E. | last7 = Dei Tos | first7 = AP. | last8 = Dirksen | first8 = U. | last9 = Duffaud | first9 = F. | title = Gastrointestinal stromal tumors: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. | journal = Ann Oncol | volume = 23 Suppl 7 | issue = | pages = vii49-55 | month = Oct | year = 2012 | doi = 10.1093/annonc/mds252 | PMID = 22997454 | url = http://annonc.oxfordjournals.org/content/23/suppl_7/vii49.full }}</ref> | ||
*[[Succinate dehydrogenase|SDH]] mutation associated (SDHB, SDHC and SDHD).<ref name=pmid24523625>{{Cite journal | last1 = Lefebvre | first1 = M. | last2 = Foulkes | first2 = WD. | title = Pheochromocytoma and paraganglioma syndromes: genetics and management update. | journal = Curr Oncol | volume = 21 | issue = 1 | pages = e8-e17 | month = Feb | year = 2014 | doi = 10.3747/co.21.1579 | PMID = 24523625 }}</ref> | *[[Succinate dehydrogenase|SDH]] mutation associated (SDHB, SDHC and SDHD).<ref name=pmid24523625>{{Cite journal | last1 = Lefebvre | first1 = M. | last2 = Foulkes | first2 = WD. | title = Pheochromocytoma and paraganglioma syndromes: genetics and management update. | journal = Curr Oncol | volume = 21 | issue = 1 | pages = e8-e17 | month = Feb | year = 2014 | doi = 10.3747/co.21.1579 | PMID = 24523625 }}</ref> | ||
*[[Hereditary leiomyomatosis and renal cell carcinoma syndrome]].<ref name=pmid39705504>{{cite journal |authors=Orrego JJ, Chorny JA |title=Hereditary leiomyomatosis and renal cell cancer (HLRCC), pheochromocytoma (PCC)/paraganglioma (PGL) and germline fumarate hydratase (FH) variants |journal=Endocrinol Diabetes Metab Case Rep |volume=2024 |issue=4 |pages= |date=October 2024 |pmid=39705504 |pmc=11737469 |doi=10.1530/EDM-24-0073 |url=}}</ref><ref name=pmid36773955>{{cite journal |authors=Zavoshi S, Lu E, Boutros PC, Zhang L, Harari A, Hatchell KE, Nielsen SM, Esplin ED, Ouyang K, Nykamp K, Wilde B, Christofk H, Shuch B |title=Fumarate Hydratase Variants and Their Association With Paraganglioma/Pheochromocytoma |journal=Urology |volume=176 |issue= |pages=106–114 |date=June 2023 |pmid=36773955 |doi=10.1016/j.urology.2022.11.053 |url=}}</ref> | |||
Other associations - not proven to be genetic: | Other associations - not proven to be genetic: | ||
edits