Dumont, A. G., Rink, L., Godwin, A. K., Miettinen, M., Joensuu, H., Strosberg, J. R., Gronchi, A., Corless, C. L., Goldstein, D., Rubin, B. P., Maki, R. G., Lazar, A. J., Lev, D., Trent, J. C., von Mehren, M. (May 2012) A nonrandom association of gastrointestinal stromal tumor (GIST) and desmoid tumor (deep fibromatosis): case series of 28 patients. Ann Oncol, 23 (5). pp. 1335-40. ISSN 1569-8041 (Electronic)0923-7534 (Linking)
Abstract
BACKGROUND: Gastrointestinal stromal tumors (GISTs) and desmoid tumors (DTs) are two rare mesenchymal tumor. Anecdotal reports of individuals with both diseases led us to make the hypothesis that the association is a nonrandom event as the probability would be extremely low to observe such cases if they were independent events. PATIENTS AND METHODS: We evaluated the existence of patients with GIST and DT in a large multicenter cohort at 10 institutions in the United States, Australia and Europe. Data on gender, age at diagnosis, KIT, PDGFRA, CTNNB1 mutation status and follow-up time after diagnosis were collected. RESULTS: We identified 28 patients diagnosed with both tumors. DT was diagnosed after GIST in 75% of patients and concomitantly in 21%. In only one case (4%), GIST was diagnosed after DT. KIT or PDGFRA mutations were detected in 12 of 14 GIST, 9 in KIT exon 11, 2 in KIT exon 9 and 1 in PDGFRA. CONCLUSION: A statistical analysis of these 28 cases suggests a nonrandom association between GIST and DT. Further studies may be able to elucidate the underlying biology responsible for this association.
| Item Type: | Paper |
|---|---|
| Uncontrolled Keywords: | Adult Aged Aged, 80 and over Australia/epidemiology Cohort Studies Europe/epidemiology Female Fibromatosis, Aggressive/*complications/*epidemiology Follow-Up Studies Gastrointestinal Stromal Tumors/*complications/*epidemiology Humans Incidence Male Middle Aged Retrospective Studies United States/epidemiology |
| Subjects: | epidemiology diseases & disorders > cancer > cancer types > gastrointestinal stromal tumors |
| CSHL Authors: | |
| Communities: | CSHL labs > Maki lab |
| Depositing User: | Matt Covey |
| Date: | May 2012 |
| Date Deposited: | 20 Oct 2016 20:25 |
| Last Modified: | 20 Oct 2016 20:25 |
| PMCID: | PMC3493136 |
| Related URLs: | |
| URI: | https://repository.cshl.edu/id/eprint/33731 |
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