A rare combination consisting of aldosterone-producing adenoma and adrenal myelolipoma in a patient with heterozygosity for retinoblastoma (RB) gene.
Various pathological disorders have been associated with primary aldosteronism, including glucagonoma, phaeochromocytoma and primary hyperparathyroidism. In this report, a case of adrenal myelolipoma (a rare non-functioning tumour composed of mature adipose tissue and normal haematopoietic elements similar to bone marrow cells), aldosterone-producing adenoma and a pituitary microadenoma coexisting in a 62-year-old man with a 15-year history of arterial hypertension, previous ablation of an autonomously-functioning thyroid adenoma, multiple lipomas and an heterozygosity of the retinoblastoma (RB) susceptibility gene is reported. We believe that this case probably represents another variant of the multiple neoplasia syndrome and we speculate that structural alteration of the RB gene may play a role in the tumorogenesis.
Caliumi
Chiara
C
Department of Clinical Science, University of Rome La Sapienza, Rome, Italy.
De Toma
Giorgio
G
Bossini
Alfredo
A
Cianci
Rosario
R
Bosman
Cesare
C
Genuardi
Maurizio
M
Cerci
Sabrina
S
Letizia
Claudio
C
D000236:Adenoma / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D000310:Adrenal Gland Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D000450:Aldosterone / Q000096:biosynthesis*; D016161:Genes, Retinoblastoma; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009377:Multiple Endocrine Neoplasia / Q000235:genetics*; D018209:Myelolipoma / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
D000450:Aldosterone