Agaimy, Abbas and Pelz, Antje-Friederike and Corless, Christopher L. and Wuensch, Peter H. and Heinrich, Michael C. and Hofstaedter, Ferdinand and Dietmaier, Wolfgang and Blanke, Charles D. and Wieacker, Peter and Roessner, Albert and Hartmann, Arndt and Schneider-Stock, Regine (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). pp. 9-15. ISSN 1021-335X,
Full text not available from this repository. (Request a copy)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 I I 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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | OF-THE-LITERATURE; EXTRA-ADRENAL PARAGANGLIOMA; AUTONOMIC NERVE TUMORS; COPY NUMBER CHANGES; PULMONARY CHONDROMA; EXTRAADRENAL PARAGANGLIOMA; 12-YEAR-OLD GIRL; KIT; IMATINIB; ADULTS; gastrointestinal stromal tumour; Carney triad; comparative genomic hybridization; PDGFRA; KIT mutations |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Pathologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 03 Dec 2020 06:33 |
| Last Modified: | 03 Dec 2020 06:33 |
| URI: | https://pred.uni-regensburg.de/id/eprint/32569 |
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