Home > A. Molecular pathology > FGFR3

FGFR3

Tuesday 29 June 2004

Pathology

- constitutional activating mutations in

  • several autosomal dominant craniosynostosis syndromes
    • Crouzon craniosynostosis with acanthosis nigricans
    • Muenke syndrome (coronal craniosynostosis)
    • Saethre-Chotzen syndrome
    • Beare-Stevenson syndrome
  • chondrodysplasias
    • hypochondroplasia (MIM.146000)
    • achondroplasia (MIM.100800)
    • SADDAN dysplasia
    • skeletal dysplasia with acanthosis nigricans
    • thanatophoric dysplasia
      • thanatophoric dysplasia type 2 (MIM.187601)
  • acanthosis nigricans

- activating somatic mutations in

- FGFR3-IGH rearrangements by t(4;14)(p16;q32) in

  • plasma cell leukemia
  • multiple myeloma
  • plasmacytoma
  • monoclonal gammopathy of unknown significance (MGUS)

- FGFR3 mutations indicate better survival in invasive upper urinary tract and bladder tumours. (18584939)

Models

- human immortalized chondrocytes carrying heterozygous FGFR3 mutations (17507011)

See also

- FGFRs

  • FGFR1, FGFR2, FGFR3

References

- FGFR3 mutations indicate better survival in invasive upper urinary tract and bladder tumours. van Oers JM, Zwarthoff EC, Rehman I, Azzouzi AR, Cussenot O, Meuth M, Hamdy FC, Catto JW. Eur Urol. 2009 Mar;55(3):650-7. PMID: 18584939

- Prontera P, Sensi A, Pilu G, Baldi M, Baffico M, Bonasoni R, Calzolari E. FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association? Genet Couns. 2006;17(4):407-12. PMID: 17375526

- Logie A, Dunois-Larde C, Rosty C, Levrel O, Blanche M, Ribeiro A, Gasc JM, Jorcano J, Werner S, Sastre-Garau X, Thiery JP, Radvanyi F. Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. Hum Mol Genet. 2005 May 1;14(9):1153-60. PMID: 15772091

- Related Articles, Links

- Hafner C, Hartmann A, van Oers JM, Stoehr R, Zwarthoff EC, Hofstaedter F, Landthaler M, Vogt T. FGFR3 mutations in seborrheic keratoses are already present in flat lesions and associated with age and localization. Mod Pathol. 2007 Aug;20(8):895-903. Epub 2007 Jun 22. PMID: 17585316

- Hafner C, Hartmann A, Vogt T.FGFR3 mutations in epidermal nevi and seborrheic keratoses: lessons from urothelium and skin. J Invest Dermatol. 2007 Jul;127(7):1572-3. PMID: 17568799

- Hafner C, Hartmann A, Real FX, Hofstaedter F, Landthaler M, Vogt T.Spectrum of FGFR3 mutations in multiple intraindividual seborrheic keratoses.J Invest Dermatol. 2007 Aug;127(8):1883-5. PMID: 17392824

- Hernández S, Toll A, Baselga E, Ribé A, Azua-Romeo J, Pujol RM, Real FX. Fibroblast growth factor receptor 3 mutations in epidermal nevi and associated low grade bladder tumors.J Invest Dermatol. 2007 Jul;127(7):1664-6. PMID: 17255960

- Hafner C, Vogt T, Hartmann A. FGFR3 mutations in benign skin tumors. Cell Cycle. 2006 Dec;5(23):2723-8. PMID: 17172848

- Hafner C, van Oers JM, Hartmann A, Landthaler M, Stoehr R, Blaszyk H, Hofstaedter F, Zwarthoff EC, Vogt T. High frequency of FGFR3 mutations in adenoid seborrheic keratoses. J Invest Dermatol. 2006 Nov;126(11):2404-7. PMID: 16778799

- Bernard-Pierrot I, Brams A, Dunois-Lardé C, Caillault A, Diez de Medina SG, Cappellen D, Graff G, Thiery JP, Chopin D, Ricol D, Radvanyi F. Oncogenic properties of the mutated forms of fibroblast growth factor receptor 3b. Carcinogenesis. 2006 Apr;27(4):740-7. PMID: 16338952

- Logié A, Dunois-Lardé C, Rosty C, Levrel O, Blanche M, Ribeiro A, Gasc JM, Jorcano J, Werner S, Sastre-Garau X, Thiery JP, Radvanyi F. Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. Hum Mol Genet. 2005 May 1;14(9):1153-60. PMID: 15772091