Possible association between Carney complex and multiple endocrine neoplasia type 1 phenotypes.
Carney Complex (CNC) and Multiple Endocrine Neoplasia type 1 (MEN1) are forms of multiple endocrine neoplasia of dominant autosomal inheritance. Diagnosis of CNC occurs when two major criteria (lentiginoses, primary pigmented nodular adrenocortical disease, cardiac and cutaneous myxomas, acromegaly, testicular neoplasias, thyroid cancer) are observed and/or a major criterion associated with a supplementary criterion (affected relative, PRKAR1A gene mutation) occurs. On the other hand, diagnosis for MEN1 occurs through detection of two or more tumors located at the pituitary gland, parathyroid and/or pancreatic cells. The present case describes a 55 year-old male patient, diagnosed with acromegaly, primary hyperparathyroidism and papillary thyroid cancer, exhibiting components that meet the diagnostic criteria of both conditions described. Despite the occurrence of only one sporadic association or the acromegaly per se being responsible for the papillary cancer, new molecular mechanisms may not be ruled out.
Nunes
Vania S
VS
Department of Clinical Medicine, Universidade Estadual Paulista, Botucatu, SP, Brazil. nunesvania2003@yahoo.com.br
Chang
Cláudia V
CV
Mazeto
Gláucia M F S
GM
Marques
Mariângela E A
ME
Castro
Ana Valéria B
AV
Nogueira
Célia R
CR
D000172:Acromegaly / Q000175:diagnosis; D002291:Carcinoma, Papillary / Q000175:diagnosis; D006801:Humans; D049950:Hyperparathyroidism, Primary / Q000175:diagnosis; D008297:Male; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics / Q000473:pathology*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011518:Proto-Oncogene Proteins / Q000235:genetics; D013964:Thyroid Neoplasms / Q000175:diagnosis
C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins