Epithelioid gastric stromal tumours of the antrum in young females with the Carney triad: A report of three new cases with mutational analysis and comparative genomic hybridization

  • Authors:
    • Abbas Agaimy
    • Antje-Friederike Pelz
    • Christopher L. Corless
    • Peter H. Wünsch
    • Michael C. Heinrich
    • Ferdinand Hofstaedter
    • Wolfgang Dietmaier
    • Charles D. Blanke
    • Peter Wieacker
    • Albert Roessner
    • Arndt Hartmann
    • Regine Schneider-Stock
  • View Affiliations

  • Published online on: Sunday, July 1, 2007
  • Pages: 9-15
  • DOI: 10.3892/or.18.1.9

Abstract

Carney triad is a rare non-hereditary condition affecting young females and characterized by metachronous or synchronous occurrence of epithelioid gastrointestinal stromal tumours (GISTs), pulmonary chondroma and extra-adrenal paraganglioma. The genetic alterations in Carney triad-related GISTs have not been well studied. We evaluated GISTs from three females with incomplete Carney triad for KIT and PDGFRA mutations and studied the DNA by comparative genomic hybridization (CGH). All GISTs originated in the antrum and had a monotonous epithelioid morphology. Two patients had GISTs and pulmonary chondroma and one had GISTs and paraganglioma. Initial manifestation was GIST (n=1), pulmonary chondroma (n=1) and bladder paraganglioma (n=1). Time to the second component was 2-13 years. Two patients were alive at 108 and 168 months (one with metastases) and one died of the disease 3 years later. All cases were wild-type for KIT exons 9, 11, 13, 17 and PDGFRA exons 12 and 18. CGH revealed 14 aberrations (mean, 4.7/tumour) including 11 gains (X, 1q, 5p, 8q, 9p, 12p, 13q, 18p, 19q), 2 amplifications (1q, 19p) and one loss (13q). Carney triad-related GISTs do not only lack conventional KIT and PDGFRA mutations, but they also lack the non-random loss of 14q and 22q characteristic of their sporadic counterparts, suggesting an origin through a distinct pathogenetic pathway.
Journal Cover

July 2007
Volume 18 Issue 1

Print ISSN: 1021-335X
Online ISSN:1791-2431

2013 Impact Factor: 2.191
Ranked #33/202 Oncology
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APA
Agaimy, A., Pelz, A., Corless, C., Wünsch, P., Heinrich, M., Hofstaedter, F., Dietmaier, W., Blanke, C., Wieacker, P., Roessner, A., Hartmann, A., & Schneider-Stock, R. (2007). Epithelioid gastric stromal tumours of the antrum in young females with the Carney triad: A report of three new cases with mutational analysis and comparative genomic hybridization. Oncology Reports, 18(1), 9-15.
MLA
Agaimy, Pelz, Corless, Wünsch, Heinrich, Hofstaedter, Dietmaier, Blanke, Wieacker, Roessner, Hartmann, and Regine Schneider-Stock. "Epithelioid gastric stromal tumours of the antrum in young females with the Carney triad: A report of three new cases with mutational analysis and comparative genomic hybridization." Oncology Reports Oncology Reports 18.1 (2007): 9-15.
Chicago
Agaimy, Pelz, Corless, Wünsch, Heinrich, Hofstaedter, Dietmaier, Blanke, Wieacker, Roessner, Hartmann, and Regine Schneider-Stock. "Epithelioid gastric stromal tumours of the antrum in young females with the Carney triad: A report of three new cases with mutational analysis and comparative genomic hybridization." Oncology Reports Oncology Reports 18 no. 1 (2007): 9-15.