Tuesday 18 January 2005
germ-line mutations of FGFR1
- in Pfeiffer syndrome (MIM.101600)
- in Kallmann syndrome with or without cleft lip/palate, or with bimanual synkinesia, or with multiple dental agenesis (MIM.147950)
- in osteoglophonic dysplasia
- isolated trigonocephaly (MIM.190440)
- isolated trigonocephaly (MIM.190440)
fusion proteins in cellular proliferations
- BCR/FGFR1 by t(8;22)(p12;q11) in chronic myeloid leukemia (FGFR1 at 8p12 and BCR ar 22q11)
- CEP110/FGFR1 by t(8;9)(p12;q33) in stem cell myeloproliferative disorder (MPD) (CEP1 at 9q33 and FGFR1 at 8p12) (10688839)
- FGFR1 over-expression in rhabdomyosarcomas
- FGFR1 is frequently overexpressed in squamous cell carcinoma and adenocarcinoma of the lung. (18829480)
- FGFR1 amplification in squamous cell lung cancer
- high- and low-level FGFR1 amplification types in squamous cell lung cancer. (22684217)
- fibroblast growth factor receptor-type 1 (FGFR1) amplification is associated with therapeutically tractable FGFR1 dependency in squamous cell lung cancer.
- FGFR1 is a target for directed therapy in these tumors.
- FGFR1 amplification is one of the most frequent therapeutically tractable genetic lesions in pulmonary carcinomas.
- Standardized reporting of FGFR1 amplification in squamous carcinomas of the lung will become increasingly important to correlate therapeutic responses with FGFR1 inhibitors in clinical studies. (22684217)
- FGFR1 amplification in squamous cell carcinoma of the head and neck (23619603)
- Fibroblast growth factor receptor 1 amplification is a common event (15%) in squamous cell carcinoma of the head and neck.(23619603)
- Patients harboring this genetic event are currently eligible for treatment with antifibroblast growth factor receptor small-molecule inhibitors in phase I clinical trials.
- FGFR1 amplification is a potential biomarker for more aggressive disease. Fibroblast growth factor receptor 1-amplified tumors could potentially comprise a subset of head and neck squamous cell carcinoma against which targeted small-molecule inhibitors hold therapeutic efficacy.
Definition of a fluorescence in-situ hybridization score identifies high- and low-level FGFR1 amplification types in squamous cell lung cancer. Schildhaus HU, Heukamp LC, Merkelbach-Bruse S, Riesner K, Schmitz K, Binot E, Paggen E, Albus K, Schulte W, Ko YD, Schlesinger A, Ansén S, Engel-Riedel W, Brockmann M, Serke M, Gerigk U, Huss S, Göke F, Perner S, Hekmat K, Frank KF, Reiser M, Schnell R, Bos M, Mattonet C, Sos M, Stoelben E, Wolf J, Zander T, Buettner R. Mod Pathol. 2012 Jun 8. PMID: 22684217
Immunohistochemical expression of basic fibroblast growth factor and fibroblast growth factor receptors 1 and 2 in the pathogenesis of lung cancer. Behrens C, Lin HY, Lee JJ, Raso MG, Hong WK, Wistuba II, Lotan R. Clin Cancer Res. 2008 Oct 1;14(19):6014-22. PMID: 18829480
Park TS, Song J, Kim JS, Yang WI, Song S, Kim SJ, Suh B, Choi JR. 8p11 myeloproliferative syndrome preceded by t(8;9)(p11;q33), CEP110/FGFR1 fusion transcript: morphologic, molecular, and cytogenetic characterization of myeloid neoplasms associated with eosinophilia and FGFR1 abnormality. Cancer Genet Cytogenet. 2008 Mar;181(2):93-9. PMID: 18295660
Guasch, G.; Mack, G. J.; Popovici, C.; Dastugue, N.; Birnbaum, D.; Rattner, J. B.; Pebusque, M.-J. : FGFR1 is fused to the centrosome-associated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33). Blood 95: 1788-1796, 2000. PubMed ID : 10688839
Goldstein M, Meller I, Orr-Urtreger A. FGFR1 over-expression in primary rhabdomyosarcoma tumors is associated with hypomethylation of a 5’ CpG Island and abnormal expression of the AKT1, NOG, and BMP4 genes. Genes Chromosomes Cancer. 2007 Aug 15; PMID: 17696196
Devilard E, Bladou F, Ramuz O, Karsenty G, Dales JP, Gravis G, Nguyen C, Bertucci F, Xerri L, Birnbaum D. FGFR1 and WT1 are markers of human prostate cancer progression. BMC Cancer. 2006 Nov 30;6:272. PMID: 17137506