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

A. G. Dumont, L. Rink, A. K. Godwin, M. Miettinen, H. Joensuu, J. R. Strosberg, A. Gronchi, C. L. Corless, D. Goldstein, B. P. Rubin, R. G. Maki, A. J. Lazar, D. Lev, J. C. Trent, M. Von Mehren

Research output: Contribution to journalArticle

27 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1335-1340
Number of pages6
JournalAnnals of Oncology
Volume23
Issue number5
DOIs
StatePublished - May 2012

Keywords

  • Beta-catenin
  • Deep fibromatosis
  • Desmoid tumor
  • GIST
  • Imatinib
  • KIT

ASJC Scopus subject areas

  • Hematology
  • Oncology

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    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. (2012). A nonrandom association of gastrointestinal stromal tumor (GIST) and desmoid tumor (deep fibromatosis): Case series of 28 patients. Annals of Oncology, 23(5), 1335-1340. https://doi.org/10.1093/annonc/mdr442