PDGFRA
Pathology
somatic PDGFRA mutations in GIST
- gain-of-function mutations of platelet-derived growth factor receptor alpha gene in gastrointestinal stromal tumors (#12949711#, #12522257#)
PDGFRA/FIP1L1 gene fusion in
- chronic eosinophilic leukemia (idiopathic hypereosinophilic syndrome) (MIM.607685) (#17555450#)
- eosinophilia-associated acute myeloid leukemia (#17377585#)
- lymphoblastic T-cell lymphoma (#17377585#)
CDK5RAP2/PDGFRA fusion gene by ins(9;4)(q33;q12q25) in chronic eosinophilic leukemia (#16845659#)
PDGFRA amplification (4p12 amplification) and overexpression in tumors
- fibrosarcoma of bone (#19862822#)
- non-small cell lung cancer (#19816149#)
- medulloblastomas
- cerebral primitive neuroectodermal tumors (#19779861#)
- gliomas (#19707201#)
- glioblastoma multiforme (#17504929#)
See also
4p12 amplification
References
Frequent deletion of CDKN2A and recurrent coamplification of KIT, PDGFRA, and KDR in fibrosarcoma of bone—an array comparative genomic hybridization study. Niini T, López-Guerrero JA, Ninomiya S, Guled M, Hattinger CM, Michelacci F, Böhling T, Llombart-Bosch A, Picci P, Serra M, Knuutila S. Genes Chromosomes Cancer. 2010 Feb;49(2):132-43. PMID: #19862822#
Amplification and overexpression of KIT, PDGFRA, and VEGFR2 in medulloblastomas and primitive neuroectodermal tumors. Blom T, Roselli A, Häyry V, Tynninen O, Wartiovaara K, Korja M, Nordfors K, Haapasalo H, Nupponen NN. J Neurooncol. 2010 Apr;97(2):217-24. PMID: #19779861#
Amplification of chromosomal segment 4q12 in non-small cell lung cancer. Ramos AH, Dutt A, Mermel C, Perner S, Cho J, Lafargue CJ, Johnson LA, Stiedl AC, Tanaka KE, Bass AJ, Barretina J, Weir BA, Beroukhim R, Thomas RK, Minna JD, Chirieac LR, Lindeman NI, Giordano T, Beer DG, Wagner P, Wistuba II, Rubin MA, Meyerson M. Cancer Biol Ther. 2009 Nov;8(21):2042-50. PMID: #19755855#
Two novel imatinib-responsive PDGFRA fusion genes in chronic eosinophilic leukaemia. Curtis CE, Grand FH, Musto P, Clark A, Murphy J, Perla G, Minervini MM, Stewart J, Reiter A, Cross NC. Br J Haematol. 2007 Jul;138(1):77-81. PMID: #17555450#
Vigna E, Lucia E, Gentile M, Mazzone C, Bisconte MG, Gentile C, Armentano A, Ottaviani E, Rondoni M, Martinelli G, Morabito F. PDGFRalpha/FIP1L1-positive chronic eosinophilic leukemia presenting with retro-orbital localization: efficacy of imatinib treatment. Cancer Chemother Pharmacol. 2007 Jun 5; PMID: #17549478#
Metzgeroth G, Walz C, Score J, Siebert R, Schnittger S, Haferlach C, Popp H, Haferlach T, Erben P, Mix J, Müller MC, Beneke H, Müller L, Del Valle F, Aulitzky WE, Wittkowsky G, Schmitz N, Schulte C, Müller-Hermelink K, Hodges E, Whittaker SJ, Diecker F, Döhner H, Schuld P, Hehlmann R, Hochhaus A, Cross NC, Reiter A.Recurrent finding of the FIP1L1-PDGFRA fusion gene in eosinophilia-associated acute myeloid leukemia and lymphoblastic T-cell lymphoma.Leukemia. 2007 Jun;21(6):1183-8. PMID: #17377585#
Walz C, Curtis C, Schnittger S, Schultheis B, Metzgeroth G, Schoch C, Lengfelder E, Erben P, Muller MC, Haferlach T, Hochhaus A, Hehlmann R, Cross NC, Reiter A. Transient response to imatinib in a chronic eosinophilic leukemia associated with ins(9;4)(q33;q12q25) and a CDK5RAP2-PDGFRA fusion gene. Genes Chromosomes Cancer. 2006 Oct;45(10):950-6. PMID: #16845659#
Baccarani M, Cilloni D, Rondoni M, et al. The efficacy of imatinib mesylate in patients with FIP1L1-PDGFRalpha-positive hypereosinophilic syndrome: results of a multicenter prospective study. Haematologica 2007;92:1173-1179.
Cools J, DeAngelo DJ, Gotlib J, et al. A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N Engl J Med 2003;348:1201-1214.