Skip to main content
Top
Published in: Pediatric and Developmental Pathology 4/2004

01-04-2004 | Original article

Getting the GIST of the Carney Triad: Growth Factors, Rare Tumors, and Cellular Respiration

Author: Paul S. Amieux

Published in: Pediatric and Developmental Pathology | Issue 4/2004

Login to get access

Excerpt

In this issue, Boccon-Gibod and colleagues report twins, one with paraganglioma and the other with gastrointestinal stromal tumor (GIST). These rare neoplasms may represent manifestations of the Carney Triad (GIST, functioning extra-adrenal paraganglioma, and pulmonary chondroma), an autosomal dominant disorder due to mutation(s) of a yet to be identified gene [1]. …
Literature
1.
go back to reference Carney, JA, Sheps, SG, Go, VLW, Gordon, H 1977The triad of gastric leiomyosarcoma, functioning extra-adrenal paraganglioma and pulmonary chondromaN Engl J Med29615171518PubMed Carney, JA, Sheps, SG, Go, VLW, Gordon, H 1977The triad of gastric leiomyosarcoma, functioning extra-adrenal paraganglioma and pulmonary chondromaN Engl J Med29615171518PubMed
2.
go back to reference Baysal, BE 2003On the association of succinate dehydrogenase mutations with hereditary paragangliomaTrends Endocrinol Metab14453459CrossRefPubMed Baysal, BE 2003On the association of succinate dehydrogenase mutations with hereditary paragangliomaTrends Endocrinol Metab14453459CrossRefPubMed
3.
go back to reference Duffaud, F, Blay, JY 2003Gastrointestinal stromal tumors: biology and treatmentOncology65187197CrossRefPubMed Duffaud, F, Blay, JY 2003Gastrointestinal stromal tumors: biology and treatmentOncology65187197CrossRefPubMed
4.
5.
go back to reference Ward, SM, Burns, AJ, Torihashi, S, Sanders, KM 1994Mutation of the proto-oncogene c-kit blocks development of interstitial cells and electrical rhythmicity in murine intestineJ Physiol4809197PubMed Ward, SM, Burns, AJ, Torihashi, S, Sanders, KM 1994Mutation of the proto-oncogene c-kit blocks development of interstitial cells and electrical rhythmicity in murine intestineJ Physiol4809197PubMed
6.
go back to reference Sommer, G, Agosti, V, Ehlrers, I, et al. 2003Gastrointestinal stromal tumors in a model by targeted mutation of the kit receptor tyrosine kinaseProc Natl Acad Sci USA10067066711 Sommer, G, Agosti, V, Ehlrers, I,  et al. 2003Gastrointestinal stromal tumors in a model by targeted mutation of the kit receptor tyrosine kinaseProc Natl Acad Sci USA10067066711
7.
go back to reference Spritz, RA, Strunk, KM, Lee, S-T, et al. 1994A YAC contig spanning a cluster of human type III receptor protein tyrosine kinase genes (PDGFRA-KIT-KDR) in chromosome segment 4q12Genomics22431436CrossRefPubMed Spritz, RA, Strunk, KM, Lee, S-T,  et al. 1994A YAC contig spanning a cluster of human type III receptor protein tyrosine kinase genes (PDGFRA-KIT-KDR) in chromosome segment 4q12Genomics22431436CrossRefPubMed
8.
go back to reference Heinrich, MC, Corless, CL, Duensing, A, et al. 2003PDGFRA activating mutations in gastrointestinal stromal tumorsScience299708710CrossRefPubMed Heinrich, MC, Corless, CL, Duensing, A,  et al. 2003PDGFRA activating mutations in gastrointestinal stromal tumorsScience299708710CrossRefPubMed
9.
go back to reference Hirota, S, Ohashi, A, Nishida, T, et al. 2003Gain-of-function mutations of platelet-derived growth factor receptor α Gene in gastrointestinal stromal tumorsGastroenterology125660667CrossRefPubMed Hirota, S, Ohashi, A, Nishida, T,  et al. 2003Gain-of-function mutations of platelet-derived growth factor receptor α Gene in gastrointestinal stromal tumorsGastroenterology125660667CrossRefPubMed
10.
go back to reference Rodriguez-Cuevas, S, Lopez-Garza, J, Labastida-Almendaro, S 1998Carotid body tumors in inhabitants of altitudes higher than 2000 meters above sea levelHead Neck20374378CrossRefPubMed Rodriguez-Cuevas, S, Lopez-Garza, J, Labastida-Almendaro, S 1998Carotid body tumors in inhabitants of altitudes higher than 2000 meters above sea levelHead Neck20374378CrossRefPubMed
11.
go back to reference Chandel, NS, McClintock, DS, Feliciano, CE, et al. 2000Reactive oxygen species generated at mitochondrial complex III stabilize hypoxia-inducible factor-1α during hypoxiaJ Biol Chem2752513025138CrossRefPubMed Chandel, NS, McClintock, DS, Feliciano, CE,  et al. 2000Reactive oxygen species generated at mitochondrial complex III stabilize hypoxia-inducible factor-1α during hypoxiaJ Biol Chem2752513025138CrossRefPubMed
12.
go back to reference Zhou, J, Schmid, T, Frank, R, Bruner, B 2004PI3K/Akt is required for heat shock proteins to protect hypoxia-inducible factor 1α from pVHL-independent degradationJ Biol Chem2791350613513CrossRefPubMed Zhou, J, Schmid, T, Frank, R, Bruner, B 2004PI3K/Akt is required for heat shock proteins to protect hypoxia-inducible factor 1α from pVHL-independent degradationJ Biol Chem2791350613513CrossRefPubMed
13.
go back to reference Lee, J-W, Bae, S-H, Jeong, J-W, Kim, S-H, Kim, K-W 2004Hypoxia-inducible factor (HIF-1)α: its protein stability and biological functionsExp Mol Med36112PubMed Lee, J-W, Bae, S-H, Jeong, J-W, Kim, S-H, Kim, K-W 2004Hypoxia-inducible factor (HIF-1)α: its protein stability and biological functionsExp Mol Med36112PubMed
Metadata
Title
Getting the GIST of the Carney Triad: Growth Factors, Rare Tumors, and Cellular Respiration
Author
Paul S. Amieux
Publication date
01-04-2004
Publisher
Springer-Verlag
Published in
Pediatric and Developmental Pathology / Issue 4/2004
Print ISSN: 1093-5266
Electronic ISSN: 1615-5742
DOI
https://doi.org/10.1007/s10024-004-4038-5

Other articles of this Issue 4/2004

Pediatric and Developmental Pathology 4/2004 Go to the issue