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Multiple paragangliomas associated with polycythemia

MedGen UID:
1812993
•Concept ID:
C5679884
•
Disease or Syndrome
Synonyms: Multiple paraganglioma associated with erythrocytosis; Multiple paraganglioma associated with polycythemia; Multiple paragangliomas associated with erythrocytosis; multiple paragangliomas associated with erythrocytosis; multiple paragangliomas associated with polycythemia; Paraganglioma, somatostatinoma, polycythemia syndrome; Paraganglioma-somatostatinoma-polycythemia syndrome; paraganglioma-somatostatinoma-polycythemia syndrome
SNOMED CT: Paraganglioma, somatostatinoma, polycythemia syndrome (1197217007); Multiple paraganglioma associated with erythrocytosis (1197217007); Multiple paraganglioma associated with polycythemia (1197217007)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0017926
Orphanet: ORPHA324299

Definition

A rare endocrine disease characterized by early onset of polycythemia, and later occurring multiple paraganglioma. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultiple paragangliomas associated with polycythemia

Professional guidelines

PubMed

Somatic and germline mutations in NETs: Implications for their diagnosis and management.
Minnetti M, Grossman A
Best Pract Res Clin Endocrinol Metab 2016 Jan;30(1):115-27. Epub 2015 Oct 9 doi: 10.1016/j.beem.2015.09.007. PMID: 26971848

Recent clinical studies

Etiology

VHL-Related Neuroendocrine Neoplasms And Beyond: An Israeli Specialized Center Real-Life Report.
Szalat A, Oleinikov K, Nahmias A, Meiner V, Ben-Haim S, Atlan K, Lev-Cohain N, Appelbaum L, Gomori M, Mazeh H, Khalaileh A, Pe'er J, Lossos A, Shoshan Y, Grozinsky-Glasberg S, Gross DJ
Endocr Pract 2020 Oct;26(10):1131-1142. doi: 10.4158/EP-2020-0220. PMID: 33471715
Functional Imaging Signature of Patients Presenting with Polycythemia/Paraganglioma Syndromes.
Janssen I, Chen CC, Zhuang Z, Millo CM, Wolf KI, Ling A, Lin FI, Adams KT, Herscovitch P, Feelders RA, Fojo AT, Taieb D, Kebebew E, Pacak K
J Nucl Med 2017 Aug;58(8):1236-1242. Epub 2017 Mar 23 doi: 10.2967/jnumed.116.187690. PMID: 28336782Free PMC Article
Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.
Couvé S, Ladroue C, Laine E, Mahtouk K, Guégan J, Gad S, Le Jeune H, Le Gentil M, Nuel G, Kim WY, Lecomte B, Pagès JC, Collin C, Lasne F, Benusiglio PR, Bressac-de Paillerets B, Feunteun J, Lazar V, Gimenez-Roqueplo AP, Mazure NM, Dessen P, Tchertanov L, Mole DR, Kaelin W, Ratcliffe P, Richard S, Gardie B
Cancer Res 2014 Nov 15;74(22):6554-64. Epub 2014 Nov 4 doi: 10.1158/0008-5472.CAN-14-1161. PMID: 25371412Free PMC Article
Polycythemia and paraganglioma with a novel somatic HIF2A mutation in a male.
Toyoda H, Hirayama J, Sugimoto Y, Uchida K, Ohishi K, Hirayama M, Komada Y
Pediatrics 2014 Jun;133(6):e1787-91. Epub 2014 May 12 doi: 10.1542/peds.2013-2419. PMID: 24819565

Diagnosis

VHL-Related Neuroendocrine Neoplasms And Beyond: An Israeli Specialized Center Real-Life Report.
Szalat A, Oleinikov K, Nahmias A, Meiner V, Ben-Haim S, Atlan K, Lev-Cohain N, Appelbaum L, Gomori M, Mazeh H, Khalaileh A, Pe'er J, Lossos A, Shoshan Y, Grozinsky-Glasberg S, Gross DJ
Endocr Pract 2020 Oct;26(10):1131-1142. doi: 10.4158/EP-2020-0220. PMID: 33471715
Functional Imaging Signature of Patients Presenting with Polycythemia/Paraganglioma Syndromes.
Janssen I, Chen CC, Zhuang Z, Millo CM, Wolf KI, Ling A, Lin FI, Adams KT, Herscovitch P, Feelders RA, Fojo AT, Taieb D, Kebebew E, Pacak K
J Nucl Med 2017 Aug;58(8):1236-1242. Epub 2017 Mar 23 doi: 10.2967/jnumed.116.187690. PMID: 28336782Free PMC Article
Somatic and germline mutations in NETs: Implications for their diagnosis and management.
Minnetti M, Grossman A
Best Pract Res Clin Endocrinol Metab 2016 Jan;30(1):115-27. Epub 2015 Oct 9 doi: 10.1016/j.beem.2015.09.007. PMID: 26971848
Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.
Couvé S, Ladroue C, Laine E, Mahtouk K, Guégan J, Gad S, Le Jeune H, Le Gentil M, Nuel G, Kim WY, Lecomte B, Pagès JC, Collin C, Lasne F, Benusiglio PR, Bressac-de Paillerets B, Feunteun J, Lazar V, Gimenez-Roqueplo AP, Mazure NM, Dessen P, Tchertanov L, Mole DR, Kaelin W, Ratcliffe P, Richard S, Gardie B
Cancer Res 2014 Nov 15;74(22):6554-64. Epub 2014 Nov 4 doi: 10.1158/0008-5472.CAN-14-1161. PMID: 25371412Free PMC Article
Polycythemia and paraganglioma with a novel somatic HIF2A mutation in a male.
Toyoda H, Hirayama J, Sugimoto Y, Uchida K, Ohishi K, Hirayama M, Komada Y
Pediatrics 2014 Jun;133(6):e1787-91. Epub 2014 May 12 doi: 10.1542/peds.2013-2419. PMID: 24819565

Therapy

A case of sickle-cell erythrocytosis occurring following renal transplantation.
Myers B, Donohue SM
Clin Lab Haematol 2002 Jun;24(3):175-7. doi: 10.1046/j.1365-2257.2002.00442.x. PMID: 12067283

Prognosis

Hypoxia-Inducible Factor 2α Mutation-Related Paragangliomas Classify as Discrete Pseudohypoxic Subcluster.
Fliedner SM, Shankavaram U, Marzouca G, Elkahloun A, Jochmanova I, Daerr R, Linehan WM, Timmers H, Tischler AS, Papaspyrou K, Brieger J, de Krijger R, Breza J, Eisenhofer G, Zhuang Z, Lehnert H, Pacak K
Neoplasia 2016 Sep;18(9):567-76. doi: 10.1016/j.neo.2016.07.008. PMID: 27659016Free PMC Article
Somatic and germline mutations in NETs: Implications for their diagnosis and management.
Minnetti M, Grossman A
Best Pract Res Clin Endocrinol Metab 2016 Jan;30(1):115-27. Epub 2015 Oct 9 doi: 10.1016/j.beem.2015.09.007. PMID: 26971848
Polycythemia and paraganglioma with a novel somatic HIF2A mutation in a male.
Toyoda H, Hirayama J, Sugimoto Y, Uchida K, Ohishi K, Hirayama M, Komada Y
Pediatrics 2014 Jun;133(6):e1787-91. Epub 2014 May 12 doi: 10.1542/peds.2013-2419. PMID: 24819565

Clinical prediction guides

VHL-Related Neuroendocrine Neoplasms And Beyond: An Israeli Specialized Center Real-Life Report.
Szalat A, Oleinikov K, Nahmias A, Meiner V, Ben-Haim S, Atlan K, Lev-Cohain N, Appelbaum L, Gomori M, Mazeh H, Khalaileh A, Pe'er J, Lossos A, Shoshan Y, Grozinsky-Glasberg S, Gross DJ
Endocr Pract 2020 Oct;26(10):1131-1142. doi: 10.4158/EP-2020-0220. PMID: 33471715
Hypoxia-Inducible Factor 2α Mutation-Related Paragangliomas Classify as Discrete Pseudohypoxic Subcluster.
Fliedner SM, Shankavaram U, Marzouca G, Elkahloun A, Jochmanova I, Daerr R, Linehan WM, Timmers H, Tischler AS, Papaspyrou K, Brieger J, de Krijger R, Breza J, Eisenhofer G, Zhuang Z, Lehnert H, Pacak K
Neoplasia 2016 Sep;18(9):567-76. doi: 10.1016/j.neo.2016.07.008. PMID: 27659016Free PMC Article
Somatic and germline mutations in NETs: Implications for their diagnosis and management.
Minnetti M, Grossman A
Best Pract Res Clin Endocrinol Metab 2016 Jan;30(1):115-27. Epub 2015 Oct 9 doi: 10.1016/j.beem.2015.09.007. PMID: 26971848
Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.
Couvé S, Ladroue C, Laine E, Mahtouk K, Guégan J, Gad S, Le Jeune H, Le Gentil M, Nuel G, Kim WY, Lecomte B, Pagès JC, Collin C, Lasne F, Benusiglio PR, Bressac-de Paillerets B, Feunteun J, Lazar V, Gimenez-Roqueplo AP, Mazure NM, Dessen P, Tchertanov L, Mole DR, Kaelin W, Ratcliffe P, Richard S, Gardie B
Cancer Res 2014 Nov 15;74(22):6554-64. Epub 2014 Nov 4 doi: 10.1158/0008-5472.CAN-14-1161. PMID: 25371412Free PMC Article
Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia.
Ladroue C, Hoogewijs D, Gad S, Carcenac R, Storti F, Barrois M, Gimenez-Roqueplo AP, Leporrier M, Casadevall N, Hermine O, Kiladjian JJ, Baruchel A, Fakhoury F, Bressac-de Paillerets B, Feunteun J, Mazure N, Pouysségur J, Wenger RH, Richard S, Gardie B
Haematologica 2012 Jan;97(1):9-14. Epub 2011 Sep 20 doi: 10.3324/haematol.2011.044644. PMID: 21933857Free PMC Article

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