IGF1R
Pathology
germline mutations in resistance to IGF1 (intrauterine growth retardation and subsequent short stature)
IGF1R overexpression by 15q25-26 amplification in tumors
- pediatric malignant astrocytoma (#20068183#)
- rhabdomyosarcomas
- embryonal rhabdomyosarcoma
- alveolar rhabdomyosarcoma
IGF1R overexpression without 15q25-26 amplicon amplification
- pediatric gastrointestinal stromal tumors (pediatric GIST) (#20162573#)
Increased copy number at chromosome 15q26.3
- correlation with Wilms tumor relapse (#17145858#)
Expression levels of the ret proto-oncogene (RET), insulin-like growth factor 1 receptor (IGFR1), and insulin-like growth factor 2 (IFG2) correlate with poor metastasis-free survival, supporting a role for ERK/MAPK and PI3K/AKT pathways in clinically aggressive myxoid liposarcomas. (#19368956#)
Autocrine IGF-1/IGF-1R signalling is responsible for constitutive PI3K/Akt activation in acute myeloid leukemia. (#20007139#)
References
Strong expression of IGF1R in pediatric gastrointestinal stromal tumors without IGF1R genomic amplification. Janeway KA, Zhu MJ, Barretina J, Perez-Atayde A, Demetri GD, Fletcher JA. Int J Cancer. 2010 Feb 16. PMID: #20162573#
Oncogenic BRAF mutation with CDKN2A inactivation is characteristic of a subset of pediatric malignant astrocytomas. Schiffman JD, Hodgson JG, VandenBerg SR, Flaherty P, Polley MY, Yu M, Fisher PG, Rowitch DH, Ford JM, Berger MS, Ji H, Gutmann DH, James CD. Cancer Res. 2010 Jan 15;70(2):512-9. PMID: #20068183#
Autocrine IGF-1/IGF-1R signalling is responsible for constitutive PI3K/Akt activation in acute myeloid leukemia: therapeutic value of neutralizing anti-IGF-1R antibody. Chapuis N, Tamburini J, Cornillet-Lefebvre P, Gillot L, Bardet V, Willems L, Park S, Green AS, Ifrah N, Dreyfus F, Mayeux P, Lacombe C, Bouscary D. Haematologica. PMID: #20007139#
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#