Molecular genetics of APUDomas.
It is tempting to speculate that genetic studies of the human APUDomas, particularly those of a hereditary nature, may ultimately provide valuable clues to the molecular basis of malignant transformation in cells of all types, uncover the mechanisms responsible for tumor progression, and perhaps decipher the signals important in the differentiation of normal neural crest-derived tissue. Generally, several strategies have been used in the genetic analysis of these tumors with success. These include (1) cytogenetic examination of recurring chromosomal abnormalities in hopes of pinpointing critical neighboring growth regulatory sequences important in tumor evolution, (2) identification of dominant acting oncogenes in tumor cells, (3) search for recessive inactivated suppressor genes that may regulate cell growth by analyzing tumors for loss of heterozygosity (LOH), and (4) genetic linkage studies of kindreds affected with familial APUDomas to identify and subsequently characterize the predisposition gene using a positional or functional cloning approach. The results of these strategies as they have been employed in the investigation of cutaneous malignant melanoma (CMM), the dysplastic nevus syndrome (DNS), and the multiple endocrine neoplasia (MEN) syndromes are summarized.
Decker
R A
RA
Department of Surgery, University of Michigan Medical Center, Ann Arbor 48109-0331.
D001079:Apudoma / Q000235:genetics*; D004416:Dysplastic Nevus Syndrome / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D009377:Multiple Endocrine Neoplasia / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics*