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
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...
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creator | AGAIMY, Abbas PELZ, Antje-Friederike HARTMANN, Arndt SCHNEIDER-STOCK, Regine CORLESS, Christopher L WÜNSCH, Peter H HEINRICH, Michael C HOFSTAEDTER, Ferdinand DIETMAIER, Wolfgang BLANKE, Charles D WIEACKER, Peter ROESSNER, Albert |
description | 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. |
doi_str_mv | 10.3892/or.18.1.9 |
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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.</description><identifier>ISSN: 1021-335X</identifier><identifier>EISSN: 1791-2431</identifier><identifier>DOI: 10.3892/or.18.1.9</identifier><identifier>PMID: 17549339</identifier><language>eng</language><publisher>Athens: S.n.</publisher><subject>Adult ; Biological and medical sciences ; Chondroma - genetics ; Chondroma - pathology ; Chondroma - surgery ; Chromosome Aberrations ; DNA Mutational Analysis ; Female ; Gastroenterology. Liver. Pancreas. Abdomen ; Gastrointestinal Stromal Tumors - genetics ; Gastrointestinal Stromal Tumors - pathology ; Gastrointestinal Stromal Tumors - surgery ; Humans ; Lung Neoplasms - genetics ; Lung Neoplasms - pathology ; Lung Neoplasms - surgery ; Medical sciences ; Neoplasms, Multiple Primary - genetics ; Neoplasms, Multiple Primary - pathology ; Neoplasms, Multiple Primary - surgery ; Nucleic Acid Hybridization ; Paraganglioma, Extra-Adrenal - genetics ; Paraganglioma, Extra-Adrenal - pathology ; Polymerase Chain Reaction ; Proto-Oncogene Proteins c-kit - genetics ; Pyloric Antrum - pathology ; Receptor, Platelet-Derived Growth Factor alpha - genetics ; Stomach Neoplasms - genetics ; Stomach Neoplasms - pathology ; Stomach Neoplasms - surgery ; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus ; Syndrome ; Tumors</subject><ispartof>Oncology reports, 2007-07, Vol.18 (1), p.9-15</ispartof><rights>2007 INIST-CNRS</rights><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c379t-9081659e249d0dc06cea34c7304b7c5af51d78c82871c0a329698073de82e013</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18875753$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17549339$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>AGAIMY, Abbas</creatorcontrib><creatorcontrib>PELZ, Antje-Friederike</creatorcontrib><creatorcontrib>HARTMANN, Arndt</creatorcontrib><creatorcontrib>SCHNEIDER-STOCK, Regine</creatorcontrib><creatorcontrib>CORLESS, Christopher L</creatorcontrib><creatorcontrib>WÜNSCH, Peter H</creatorcontrib><creatorcontrib>HEINRICH, Michael C</creatorcontrib><creatorcontrib>HOFSTAEDTER, Ferdinand</creatorcontrib><creatorcontrib>DIETMAIER, Wolfgang</creatorcontrib><creatorcontrib>BLANKE, Charles D</creatorcontrib><creatorcontrib>WIEACKER, Peter</creatorcontrib><creatorcontrib>ROESSNER, Albert</creatorcontrib><title>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</title><title>Oncology reports</title><addtitle>Oncol Rep</addtitle><description>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.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Chondroma - genetics</subject><subject>Chondroma - pathology</subject><subject>Chondroma - surgery</subject><subject>Chromosome Aberrations</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>Gastrointestinal Stromal Tumors - genetics</subject><subject>Gastrointestinal Stromal Tumors - pathology</subject><subject>Gastrointestinal Stromal Tumors - surgery</subject><subject>Humans</subject><subject>Lung Neoplasms - genetics</subject><subject>Lung Neoplasms - pathology</subject><subject>Lung Neoplasms - surgery</subject><subject>Medical sciences</subject><subject>Neoplasms, Multiple Primary - genetics</subject><subject>Neoplasms, Multiple Primary - pathology</subject><subject>Neoplasms, Multiple Primary - surgery</subject><subject>Nucleic Acid Hybridization</subject><subject>Paraganglioma, Extra-Adrenal - genetics</subject><subject>Paraganglioma, Extra-Adrenal - pathology</subject><subject>Polymerase Chain Reaction</subject><subject>Proto-Oncogene Proteins c-kit - genetics</subject><subject>Pyloric Antrum - pathology</subject><subject>Receptor, Platelet-Derived Growth Factor alpha - genetics</subject><subject>Stomach Neoplasms - genetics</subject><subject>Stomach Neoplasms - pathology</subject><subject>Stomach Neoplasms - surgery</subject><subject>Stomach. 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Liver. Pancreas. Abdomen</topic><topic>Gastrointestinal Stromal Tumors - genetics</topic><topic>Gastrointestinal Stromal Tumors - pathology</topic><topic>Gastrointestinal Stromal Tumors - surgery</topic><topic>Humans</topic><topic>Lung Neoplasms - genetics</topic><topic>Lung Neoplasms - pathology</topic><topic>Lung Neoplasms - surgery</topic><topic>Medical sciences</topic><topic>Neoplasms, Multiple Primary - genetics</topic><topic>Neoplasms, Multiple Primary - pathology</topic><topic>Neoplasms, Multiple Primary - surgery</topic><topic>Nucleic Acid Hybridization</topic><topic>Paraganglioma, Extra-Adrenal - genetics</topic><topic>Paraganglioma, Extra-Adrenal - pathology</topic><topic>Polymerase Chain Reaction</topic><topic>Proto-Oncogene Proteins c-kit - genetics</topic><topic>Pyloric Antrum - pathology</topic><topic>Receptor, Platelet-Derived Growth Factor alpha - genetics</topic><topic>Stomach Neoplasms - genetics</topic><topic>Stomach Neoplasms - pathology</topic><topic>Stomach Neoplasms - surgery</topic><topic>Stomach. 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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.</abstract><cop>Athens</cop><pub>S.n.</pub><pmid>17549339</pmid><doi>10.3892/or.18.1.9</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Adult Biological and medical sciences Chondroma - genetics Chondroma - pathology Chondroma - surgery Chromosome Aberrations DNA Mutational Analysis Female Gastroenterology. Liver. Pancreas. Abdomen Gastrointestinal Stromal Tumors - genetics Gastrointestinal Stromal Tumors - pathology Gastrointestinal Stromal Tumors - surgery Humans Lung Neoplasms - genetics Lung Neoplasms - pathology Lung Neoplasms - surgery Medical sciences Neoplasms, Multiple Primary - genetics Neoplasms, Multiple Primary - pathology Neoplasms, Multiple Primary - surgery Nucleic Acid Hybridization Paraganglioma, Extra-Adrenal - genetics Paraganglioma, Extra-Adrenal - pathology Polymerase Chain Reaction Proto-Oncogene Proteins c-kit - genetics Pyloric Antrum - pathology Receptor, Platelet-Derived Growth Factor alpha - genetics Stomach Neoplasms - genetics Stomach Neoplasms - pathology Stomach Neoplasms - surgery Stomach. Duodenum. Small intestine. Colon. Rectum. Anus Syndrome Tumors |
title | 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 |
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