title: Adrenal ganglioneuroma in a patient presenting with severe hypertension and diarrhea.
abstract: Ganglioneuromas (GNs) are neural crest cell-derived tumors and rarely occur in the adrenal gland. There are presently no markers that can reliably distinguish benign and malignant neuroendocrine tumors. Here we describe a 63-year-old woman who developed sudden chest pain and hypertension combined with increased stool frequency. An incidental adrenal mass 5 cm in size with a bright signal on T2-weighted magnetic resonance imaging was discovered. Biochemical evaluation and (131)I-metaiodobenzylguanidine (MIBG) scintigraphy were negative. Histopathological examination revealed a mature adrenal GN. Neuroblastoma, the immature form of a GN, is known for deletions on chromosomal locus 1p36, and adrenal tumors frequently show allele loss on 17p. To further elucidate the histo- and pathogenesis of adrenal GN, we performed loss of heterozygosity studies on chromosomal loci 1p34-36 and 17p13 (the p53 gene locus) after careful microdissection of tumor and normal tissue. We did not detect allelic losses at these loci with the informative polymorphic markers used, suggesting that these loci are not involved in tumorigenesis. In addition, immunohistochemical investigation of the GN was positive for vasoactive intestinal peptide, a hormone commonly expressed in ganglion cells. We suggest that in our patient with an adrenal GN, the combination of biochemical, scintigraphic, molecular, immunohistochemical, and histopathological findings are all consistent with the benign morphology of this tumor.
authors.affiliation: Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Disease, National Institutes of Health, Building 10, Rm 9D42, Bethesda, Maryland 20892, USA. kochc@exchange.nih.gov
authors.forename: C A
authors.initials: CA
authors.lastname: Koch
authors.forename: F M
authors.initials: FM
authors.lastname: Brouwers
authors.forename: K
authors.initials: K
authors.lastname: Rosenblatt
authors.forename: K D
authors.initials: KD
authors.lastname: Burman
authors.forename: M M
authors.initials: MM
authors.lastname: Davis
authors.forename: A O
authors.initials: AO
authors.lastname: Vortmeyer
authors.forename: K
authors.initials: K
authors.lastname: Pacak
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000175:diagnosis* / Q000235:genetics; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D003967:Diarrhea / Q000175:diagnosis*; D005260:Female; D005729:Ganglioneuroma / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D006973:Hypertension / Q000175:diagnosis*; D007124:Immunoenzyme Techniques; D019656:Loss of Heterozygosity; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D014660:Vasoactive Intestinal Peptide / Q000378:metabolism
chemical_list: D014660:Vasoactive Intestinal Peptide