See left sidebar for detailed general criteria for GIST
Germ line KIT or PDGFRA mutation
Autosomal dominant
Incomplete penetrance
Mean age 45 years
Males and females affected
Usually small intestine
Frequently multiple
Occasional interstitial cell of Cajal (ICC) hyperplasia
Some cases with
Mucocutaneous hyperpigmentation
Mast cell lesions
Melanoma
Esophageal dysmotility/achalasia
Frequently aggressive, even if small and with low mitotic rate
References (see left side bar for general GIST bibliography)
Robson ME, Glogowski E, Sommer G, Antonescu CR, Nafa K, Maki RG, Ellis N, Besmer P, Brennan M, Offit K. Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia. Clin Cancer Res. 2004 Feb 15;10(4):1250-4.
Tarn C, Merkel E, Canutescu AA, Shen W, Skorobogatko Y, Heslin MJ, Eisenberg B, Birbe R, Patchefsky A, Dunbrack R, Arnoletti JP, von Mehren M, Godwin AK. Analysis of KIT mutations in sporadic and familial gastrointestinal stromal tumors: therapeutic implications through protein modeling. Clin Cancer Res. 2005 May 15;11(10):3668-77.
Lasota J, Miettinen M. A new familial GIST identified. Am J Surg Pathol. 2006 Oct;30(10):1342.
Kleinbaum EP, Lazar AJ, Tamborini E, Mcauliffe JC, Sylvestre PB, Sunnenberg TD, Strong L, Chen LL, Choi H, Benjamin RS, Zhang W, Trent JC. Clinical, histopathologic, molecular and therapeutic findings in a large kindred with gastrointestinal stromal tumor. Int J Cancer. 2008 Feb 1;122(3):711-8.
