title: Loss of heterozygosity on the short arm of chromosomes 1 and 3 in sporadic pheochromocytoma and extra-adrenal paraganglioma.
abstract: Pheochromocytomas and extra-adrenal paragangliomas are tumors of the paraganglia with similar histological characteristics. We examined 12 sporadic pheochromocytomas and 5 extra-adrenal paragangliomas for loss of heterozygosity (LOH) in chromosomes 1p and 3p using a microdissection technique. Chromosomes 1p34-36, 3p21 and the von Hippel-Lindau (VHL) gene locus (3p25) were analyzed. LOH of a selected region on chromosome 1p was detected in 5 of 11 (45%) informative pheochromocytoma cases and in 0 of 5 (0%) informative extra-adrenal paraganglioma cases. LOH of the chromosome 3p25 VHL gene locus was detected in 5 of 9 (45%) informative pheochromocytoma cases and in 0 of 3 (0%) informative extra-adrenal paraganglioma cases. LOH of 3p21 was detected in 2 of 4 (50%) informative extra-adrenal paraganglioma cases. The allelic deletions in chromosomes 1p and 3p appear to be separate events. In conclusion, significant deletions were found at 1p34-36 and 3p25 in sporadic pheochromocytomas but not in extra-adrenal paragangliomas. These findings suggest (1) that multiple genetic factors may be involved in pheochromocytoma tumorigenesis, and (2) extra-adrenal paragangliomas may have a different genetic mechanism of tumorigenesis compared with pheochromocytomas.
authors.affiliation: Laboratory of Pathology and Surgery Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
authors.forename: M P
authors.initials: MP
authors.lastname: Vargas
authors.forename: Z
authors.initials: Z
authors.lastname: Zhuang
authors.forename: C
authors.initials: C
authors.lastname: Wang
authors.forename: A
authors.initials: A
authors.lastname: Vortmeyer
authors.forename: W M
authors.initials: WM
authors.lastname: Linehan
authors.forename: M J
authors.initials: MJ
authors.lastname: Merino
mesh_terms: D000293:Adolescent; D000328:Adult; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D016147:Genes, Tumor Suppressor; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D008025:Ligases; D008875:Middle Aged; D010236:Paraganglioma, Extra-Adrenal / Q000235:genetics*; D010673:Pheochromocytoma / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics; D012189:Retrospective Studies; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein
chemical_list: D005819:Genetic Markers; D011506:Proteins; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human