IGF1R
Pathology
germline mutations in resistance to IGF1 (intrauterine growth retardation and subsequent short stature)
IGF1R overexpression by 15q25-26 amplicon amplification in tumors
-
rhabdomyosarcomas
- embryonal rhabdomyosarcoma
- alveolar rhabdomyosarcoma
increased copy number at chromosome 15q26.3
- correlation with Wilms tumor relapse (17145858)
References
Natrajan R, Reis-Filho JS, Little SE, Messahel B, Brundler MA, Dome JS, Grundy PE, Vujanic GM, Pritchard-Jones K, Jones C. Blastemal expression of type I insulin-like growth factor receptor in Wilms? tumors is driven by increased copy number and correlates with relapse. Cancer Res. 2006 Dec 1;66(23):11148-55. PMID: 17145858