KEGG   DISEASE: Malignant paraganglioma
Entry
H01510                      Disease                                
Name
Malignant paraganglioma;
Pheochromocytoma
  Supergrp
Paraganglioma [DS:H02538]
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 in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues
   Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
    Malignant neoplasms of endocrine glands
     2D12  Malignant neoplasms of other endocrine glands or related structures
      H01510  Malignant paraganglioma
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06526  MAPK signaling
   H01510  Malignant paraganglioma
 Cellular process
  nt06523  Epigenetic regulation by Polycomb complexes
   H01510  Malignant paraganglioma
Pathway
hsa04010  MAPK signaling pathway
Network
nt06523 Epigenetic regulation by Polycomb complexes
nt06526 MAPK signaling
Gene
SDHD [HSA:6392] [KO:K00237]
SDHB [HSA:6390] [KO:K00235]
SDHC [HSA:6391] [KO:K00236]
NF1 [HSA:4763] [KO:K08052]
RET [HSA:5979] [KO:K05126]
VHL [HSA:7428] [KO:K03871]
TMEM127 [HSA:55654] [KO:K25206]
MAX [HSA:4149] [KO:K04453]
KIF1B [HSA:23095] [KO:K10392]
EPAS1 [HSA:2034] [KO:K09095]
FH [HSA:2271] [KO:K01679]
Drug
Iobenguane I 131 [DR:D03308]
Other DBs
ICD-11: 2D12
ICD-10: C75.5
MeSH: D010235
OMIM: 171300
Reference
  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
  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
  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
  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
  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
  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
  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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