A nonrandom association of gastrointestinal stromal tumor (GIST) and desmoid tumor (deep fibromatosis): case series of 28 patients

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)

URL: https://www.ncbi.nlm.nih.gov/pubmed/21994214
DOI: 10.1093/annonc/mdr442


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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