KEGG   DISEASE: Malignant paragangliomaHelp
Entry
H01510                      Disease                                

Name
Malignant paraganglioma
Description
Paragangliomas (PGLs) are rare neuroendocrine tumors that arise in sympathetic and parasympathetic paraganglia and derive from neural crest cells. Malignancy is defined by presence of metastases, tumor spread in sites where chromaffin tissue is normally absent such as lymph nodes, liver, lungs, and bones. Malignant PGLs are extremely rare. The pathogenesis and progression of PGLs are very strongly influenced by genetics. A germline mutation in one of the susceptibility genes identified so far explains ~40% of all cases; the remaining 60% are thought to be sporadic cases. Sporadic as well as hereditary PGLs have been divided in two main clusters linked to two different signalling pathways: the first cluster contains all VHL-, SDHx-, and FH- mutated tumors and is associated to the activation of hypoxic pathway, while the second cluster contains all RET- , NF1-, MAX and TMEM127- mutated tumors and is associated to the activation of MAPK and mTOR (mammalian target of rapamycin) signaling pathways.
Category
Cancer
Brite
Human diseases [BR:br08402]
 Cancers
  Cancers of endocrine organs
   H01510  Malignant paraganglioma
Human diseases in ICD-10 classification [BR:br08403]
 2. Neoplasms (C00-D48)
  C73-C75  Malignant neoplasms of thyroid and other endocrine glands
   C75  Malignant neoplasm of other endocrine glands and related structures
    H01510  Malignant paraganglioma
BRITE hierarchy
Pathway
hsa04066 HIF-1 signaling pathway  
 
Gene
SDHD (mutation) [HSA:6392] [KO:K00237]
SDHB (mutation) [HSA:6390] [KO:K00235]
SDHC (mutation) [HSA:6391] [KO:K00236]
NF1 (mutation) [HSA:4763] [KO:K08052]
RET (mutation) [HSA:5979] [KO:K05126]
VHL (mutation) [HSA:7428] [KO:K03871]
TMEM127 (mutation) [HSA:55654]
MAX (mutation) [HSA:4149] [KO:K04453]
EPAS1 (mutation) [HSA:2034] [KO:K09095]
FH (mutation) [HSA:2271] [KO:K01679]
Marker
MK167 [HSA:4288] [KO:K17582]
hTERT [HSA:7015] [KO:K11126]
HSP90 [HSA:3320 3326] [KO:K04079]
COX2 [HSA:5743] [KO:K11987]
NCAD [HSA:1000] [KO:K06736]
VEGF [HSA:7422 7423 7424 2277] [KO:K05448 K16858 K05449]
ETA [HSA:1909] [KO:K04197]
ETB [HSA:1910] [KO:K04198]
Drug
Cyclophosphamide [DG:DG00675]
Vincristine [DG:DG00690]
Dacarbazine [DG:DG00680]
Comment
ICD-O-3: 8700/3 Pheochromocytoma, malignant
ICD-O-3: 8680/3 Paraganglioma, malignant
ICD-O-3: 8693/3 Extra-adrenal paraganglioma, malignant
Other DBs
ICD-10: 
MeSH: 
Reference
PMID:25385035 (description, gene)
  Authors
Favier J, Amar L, Gimenez-Roqueplo AP
  Title
Paraganglioma and phaeochromocytoma: from genetics to personalized medicine.
  Journal
Nat Rev Endocrinol 11:101-11 (2015)
DOI:10.1038/nrendo.2014.188
Reference
PMID:18978332 (gene)
  Authors
Baysal BE
  Title
Clinical and molecular progress in hereditary paraganglioma.
  Journal
J Med Genet 45:689-94 (2008)
DOI:10.1136/jmg.2008.058560
Reference
PMID:17298303 (gene)
  Authors
Martin TP, Irving RM, Maher ER
  Title
The genetics of paragangliomas: a review.
  Journal
Clin Otolaryngol 32:7-11 (2007)
DOI:10.1111/j.1365-2273.2007.01378.x
Reference
PMID:24891137 (drug)
  Authors
Baudin E, Habra MA, Deschamps F, Cote G, Dumont F, Cabanillas M, Arfi-Roufe J, Berdelou A, Moon B, Al Ghuzlan A, Patel S, Leboulleux S, Jimenez C
  Title
Therapy of endocrine disease: treatment of malignant pheochromocytoma and paraganglioma.
  Journal
Eur J Endocrinol 171:R111-22 (2014)
DOI:10.1530/EJE-14-0113
Reference
PMID:22851969 (description, gene, marker, drug, tumor type)
  Authors
Parenti G, Zampetti B, Rapizzi E, Ercolino T, Giache V, Mannelli M
  Title
Updated and new perspectives on diagnosis, prognosis, and therapy of malignant pheochromocytoma/paraganglioma.
  Journal
J Oncol 2012:872713 (2012)
DOI:10.1155/2012/872713
Reference
PMID:17914089 (gene, marker, drug)
  Authors
Chrisoulidou A, Kaltsas G, Ilias I, Grossman AB
  Title
The diagnosis and management of malignant phaeochromocytoma and paraganglioma.
  Journal
Endocr Relat Cancer 14:569-85 (2007)
DOI:10.1677/ERC-07-0074
Reference
PMID:26839173 (description, gene)
  Authors
Pillai S, Gopalan V, Smith RA, Lam AK
  Title
Updates on the genetics and the clinical impacts on phaeochromocytoma and paraganglioma in the new era.
  Journal
Crit Rev Oncol Hematol 100:190-208 (2016)
DOI:10.1016/j.critrevonc.2016.01.022
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