M6P/IGF2R is mutated in squamous cell carcinoma of the lung.

Kong FM, Anscher MS, Washington MK, Killian JK, Jirtle RL
Oncogene. 2000 19 (12): 1572-8

PMID: 10734317 · DOI:10.1038/sj.onc.1203437

In addition to the intracellular sorting of lysosomal enzymes, the mannose 6-phosphate/insulin-like growth factor II receptor (M6P/IGF2R) plays a critical role in regulating the bioavailability of extracellular proteolytic enzymes and growth factors. It has also been shown to be mutated in a number of human cancers, and to suppress cancer cell growth. The purpose of this study was to determine if the M6P/IGF2R is mutated in lung cancer, a leading cause of cancer death worldwide. Archival pathology specimens were obtained on 22 patients with newly diagnosed, untreated squamous cell carcinoma of the lung. Two polymorphisms in the 3'-untranslated region of the M6P/IGF2R were used to screen lung tumors for loss of heterozygosity (LOH) by PCR amplification of DNA. Nineteen of 22 (86%) patients were informative (heterozygous), and 11/19 (58%) squamous cell carcinomas of the lung had LOH at the M6P/IGF2R locus. The remaining allele in 6/11 (55%) LOH patients contained mutations in either the mannose 6-phosphate or the IGF2 binding domain of the M6P/IGF2R. Thus, the M6P/IGF2R is mutated frequently in squamous cell carcinoma of the lung, providing further support for its function as a tumor suppressor.

MeSH Terms (13)

Aged Amino Acid Substitution Binding Sites Carcinoma, Squamous Cell Exons Female Heterozygote Humans Loss of Heterozygosity Lung Neoplasms Male Mutation Receptor, IGF Type 2

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