RESUMO
Adrenal incidentalomas are tumors located in the adrenal glands and found on imaging done for purposes not related to adrenal disease. In other cases adrenal mases can be radiologically found when an adrenal hormone secreting tumor is suspected, such as a pheochromocytoma or Cushing's diseases. Adrenal incidentalomas may be classified as functional or non-functional based on whether they produce hormones, such as aldosterone, cortisol, and androgens, or catecholamines. Studies indicate that around 8% of adrenal incidentalomas are adrenal gland myelolipomas (AGMs). AGMs are non-malignant masses that can cause the compression of vital organs and vessels if said masses become large enough. In patients with congenital adrenal hyperplasia (CAH), adrenocorticotropic hormone (ACTH) levels tend to be elevated due to the lack of adrenal-hormone production. Patients with CAHs are treated with steroids that suppress ACTH levels and prevent adrenal gland hyperplasia. Around 10% of AGMs are found in untreated CAHs. Our patient was a 36-year-old male who was on steroids due to CAH and intermittent abdominal pain; a CT scan revealed a large left adrenal mass that was displacing organs towards the right. Pathological analysis revealed an AGM exceeding 30 x 23.6 x 16.7 cm. This AGM is one of the largest ever to be reported in the literature.
Assuntos
Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Hiperplasia Suprarrenal Congênita/patologia , Mielolipoma/diagnóstico por imagem , Dor Abdominal/etiologia , Corticosteroides/administração & dosagem , Neoplasias das Glândulas Suprarrenais/patologia , Hiperplasia Suprarrenal Congênita/tratamento farmacológico , Adulto , Humanos , Masculino , Mielolipoma/patologia , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND: Loss of genomic imprinting (LOI) of the insulin-like growth factor-2 gene (IGF2) is an epigenetic change involving abnormal activation of the normally silent maternally inherited allele. LOI of IGF2 gene is found in tumor tissue, normal adjoining mucosa and peripheral blood lymphocytes (PBL) of some patients with colorectal cancer (CRC), suggesting that this alteration precedes and is a risk factor for CRC. However, whether LOI of IGF2 is transitory or remains a permanent epigenetic alteration is unknown. RESULTS: Four-hundred patients, mean age 60.7 years (range 15-95), 287 (80%) Caucasian were studied. This included 210 (51.4%) patients with no colorectal neoplasia, and 190 (48.6) with colorectal neoplasia. LOI of IGF2 was present in all age strata examined, and no statistically significant association across age strata (p trend > 0.05) was noted. Forty-nine patients had repeat analysis of blood imprinting status at a mean follow up time of 38.2 +/- 12.9 months. All but three patients had the same imprinting status at follow up (94% agreement, kappa 0.79, p < 0.001). Genomic imprinting was stable for patients with and without colorectal neoplasia. METHODS: Standard RT-PCR assays for imprinting analysis of IGF2 were performed on PBL from ApaI informative individuals recruited at baseline and repeated 1 to 3 years later. Prevalence of LOI of IGF2 was also evaluated according to age strata. CONCLUSION: LOI of the IGF2 gene in PBL appears to be a stable epigenetic phenomenon in most patients. Furthermore, LOI of IGF2 was not associated with age, suggesting an inherited or congenital epigenetic event. These findings support the concept that LOI of IGF2 may be a useful risk factor for CRC predisposition.