H01599 | |
H number | H01599 |
Name | Hypereosinophilic syndrome |
Description | Hypereosinophilic syndrome (HES) is a heterogeneous group of rare disorders characterized by marked blood or tissue eosinophilia resulting in a wide variety of clinical manifestations. A number of HES subtypes, or variants, have recently been identified. The best characterized of the clonal molecular defects implicated in myeloproliferative variant HES is the 800-kb interstitial deletion on chromosome 4q12 resulting in the fusion of 2 distinct genes, Fip1-like 1 (FIP1L1) and platelet-derived growth factor receptor-a (PDGFRA), leading to the FIP1L1-PDGFRA fusion kinase. PDGFR is a membrane-bound tyrosine kinase receptor and the fusion PDGFRA kinase has constitutive/unregulated tyrosine kinase activity. The lymphocytic HES variant is associated with T-cell clones producing interleukin-5 (IL-5) and can evolve into lymphoma. While myeloproliferative and lymphocytic HES are well established and permit elimination of the term, idiopathic, to these varieties, most HES patients do not fall into these categories and are classified as complex. |
Category | Cancer |
Network | - |
Gene | (HES) FIP1L1-PDGFRA [HSA:5156] [KO:K04363] |
Pathogen | Parasitic (helminths, ectoparasites, Isospora, Sarcocystis) Fungal (coccidiomycosis) Viral (HIV, HTLV) Bacterial (Mycobacterium tuberculosis) |
Env factor | - |
Carcinogen | - |
Drug | Imatinib mesylate [DR:D01441] (FIP1L1-PDGFRA positive) |
Comment | - |
Other DBs | ICD-11: 2A20.3 ICD-10: D47.5 MeSH: D017681 OMIM: 607685 |
Reference | PMID:26475367 AUTHORS Curtis C, Ogbogu P TITLE Hypereosinophilic Syndrome. JOURNAL Clin Rev Allergy Immunol 50:240-51 (2016) DOI:10.1007/s12016-015-8506-7 PMID:24726650 AUTHORS Hsieh FH TITLE Hypereosinophilic syndrome. JOURNAL Ann Allergy Asthma Immunol 112:484-8 (2014) DOI:10.1016/j.anai.2014.03.004 PMID:19630574 AUTHORS Klion A TITLE Hypereosinophilic syndrome: current approach to diagnosis and treatment. JOURNAL Annu Rev Med 60:293-306 (2009) DOI:10.1146/annurev.med.60.062107.090340 PMID:16184589 AUTHORS Wilkins HJ, Crane MM, Copeland K, Williams WV TITLE Hypereosinophilic syndrome: an update. JOURNAL Am J Hematol 80:148-57 (2005) DOI:10.1002/ajh.20423 PMID:19243381 AUTHORS Gleich GJ, Leiferman KM TITLE The hypereosinophilic syndromes: current concepts and treatments. JOURNAL Br J Haematol 145:271-85 (2009) DOI:10.1111/j.1365-2141.2009.07599.x PMID:20071982 AUTHORS Gotlib J TITLE Eosinophilic myeloid disorders: new classification and novel therapeutic strategies. JOURNAL Curr Opin Hematol 17:117-24 (2010) DOI:10.1097/MOH.0b013e3283366c70 PMID:12660384 (HES) AUTHORS Cools J, DeAngelo DJ, Gotlib J, Stover EH, Legare RD, Cortes J, Kutok J, Clark J, Galinsky I, Griffin JD, Cross NC, Tefferi A, Malone J, Alam R, Schrier SL, Schmid J, Rose M, Vandenberghe P, Verhoef G, Boogaerts M, Wlodarska I, Kantarjian H, Marynen P, Coutre SE, Stone R, Gilliland DG TITLE A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. JOURNAL N Engl J Med 348:1201-14 (2003) DOI:10.1056/NEJMoa025217 |