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
    • type I thanatophoric dysplasia (MIM.187600)
    • type II thanatophoric dysplasia (MIM.187601)

• acanthosis nigricans

 activating somatic mutations in

• vesical carcinoma (bladder carcinoma or bladder urothelial carcinoma)
• myeloma
• colorectal adenocarcinoma
• uterine cervical carcinoma (#15869706#)
• seborrheic keratosis (39%) (#15772091#)

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

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

References

 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. Epub 2005 Mar 16. PMID: #15772091#