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

Abbas Agaimy, Antje Friederike Pelz, Christopher Corless, Peter H. Wünsch, Michael Heinrich, Ferdinand Hofstaedter, Wolfgang Dietmaier, Charles Blanke, Peter Wieacker, Albert Roessner, Arndt Hartmann, Regine Schneider-Stock

Research output: Contribution to journalArticle

35 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)9-15
Number of pages7
JournalOncology Reports
Volume18
Issue number1
StatePublished - Jul 2007

Fingerprint

Gastrointestinal Stromal Tumors
Comparative Genomic Hybridization
Stomach
Chondroma
Neoplasms
Lung
Exons
Extra-Adrenal Paraganglioma
Paraganglioma
Mutation
Carney Triad
Urinary Bladder
Neoplasm Metastasis
DNA

Keywords

  • Carney triad
  • Comparative genomic hybridization
  • Gastrointestinal stromal tumour
  • KIT mutations
  • PDGFRA

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

Cite this

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. / Agaimy, Abbas; Pelz, Antje Friederike; Corless, Christopher; Wünsch, Peter H.; Heinrich, Michael; Hofstaedter, Ferdinand; Dietmaier, Wolfgang; Blanke, Charles; Wieacker, Peter; Roessner, Albert; Hartmann, Arndt; Schneider-Stock, Regine.

In: Oncology Reports, Vol. 18, No. 1, 07.2007, p. 9-15.

Research output: Contribution to journalArticle

Agaimy, A, Pelz, AF, Corless, C, Wünsch, PH, 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, vol. 18, no. 1, pp. 9-15.
Agaimy, Abbas ; Pelz, Antje Friederike ; Corless, Christopher ; Wünsch, Peter H. ; Heinrich, Michael ; Hofstaedter, Ferdinand ; Dietmaier, Wolfgang ; Blanke, Charles ; Wieacker, Peter ; Roessner, Albert ; Hartmann, Arndt ; Schneider-Stock, Regine. / 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. In: Oncology Reports. 2007 ; Vol. 18, No. 1. pp. 9-15.
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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.",
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