Familial Adenomatous Polyposis Associated With Bilateral Adrenocortical Tumors and Agressive Desmoid Tumor

Abstract Background: Familial adenomatous polyposis (FAP) is an autosomal dominant condition caused by germline mutation in the tumor suppressor gene APC. FAP occurs in 1 to 10.000 individuals, and is characterized by hundreds to thousands of colonic adenomatous polyps with a high risk of developing into colorectal cancer. Extracolonic manifestations can be malignant or benign. The major causes of morbidity and mortality in patients with FAP are abdominal desmoid tumors, with incidences ranging between 7% and 17%. Adrenal incidentaloma are frequently discovered in these patients, generally as benign lesions when they undergo abdominal CT-scan in the course of surveillance. Adrenal lesions in FAP ranged from 7.4% to 16%. We described an unusual patient with FAP, associated with autonomous cortisol production due to bilateral adrenal tumors and the development of aggressive desmoid tumor after unilateral adrenalectomy. Clinical Case: A 33-years-old female FAP-patient presented with abdominal pain, weight gain (10kgs), humor instability, paroxysmal of chest pain, dizziness and tremors. The abdominal MRI showed a heterogeneous, left adrenal mass (9.0 x 7.9 x 6.7cm), suspected for malignant tumor, and right adrenal mass with 3.6 x 1.8 cm suggestive of adenoma. Abdominal CT and PETCTFDG revealed on the left adrenal lesion with 33UH and maxSUV 3.9 and a right adrenal lesion 13UH and maxSUV 3.1. Serum hormone levels were as follows: cortisol after DST (1mg-dexamethasone) 4.8 ug/Dl, ACTH 8,8pg/Ml with no other abnormal hormone secretion detected. Patient underwent left adrenalectomy. Histological analysis revealed Weiss 1, modified Weiss 2 and Ki67 <1% compatible with adenoma. On follow-up, abdominal MRI revealed a 4.3cm-solid-homogeneous mass at the surgical incision, suspected of malignance. The mass progressively enlarged to 6.3 cm in diameter. Histological analysis of the biopsy identified a desmoid tumor. The contralateral adrenal tumor maintained stable during the follow-up; however, it began to produce cortisol autonomous secretion as observed on DST. The patient developed metabolic syndrome and did not present classical Cushing’ syndrome. Contralateral adrenalectomy was contraindicated because of concern of emergence of a new desmoid tumor. Discussion: FAP-associated with adrenal tumors can produce mineralocorticoids, corticosteroids, or both. Although adrenal cortical tumors have been reported frequently in FAP patients, the presence of bilateral commitment tumors on adrenal glands is extremely rare. Conclusion: We reported a woman with FAP and bilateral adrenal tumors with non-synchronic cortisol secretion associated with an aggressive desmoid tumor developing after the adrenalectomy. The patient is taking an adrenal inhibitor of steroidogenesis to control cortisol secretion and to provide clinical improvement.