Adrenal Cortical Carcinoma Associated With Lynch Syndrome: A Case Report and Review of Literature

Abstract

Objective Adrenocortical carcinoma (ACC) is a rare malignancy with poor prognosis. ACC was reported in 3.2% patients with Lynch syndrome (LS), however no particular case-detection strategies have been recommended. Participants We report a case of a 65-year-old woman who was incidentally discovered with a large adrenal mass during work-up of postmenopausal uterine bleeding. She was recently diagnosed with MSH6 germline mutation after her sister presented with uterine carcinoma in the setting of LS. Results Whereas the patient was asymptomatic for overt hormonal excess, biochemical work-up confirmed glucocorticoid autonomy and androgen and estrogen excess. Urine steroid profiling was suggestive of ACC. Adrenalectomy confirmed an oncocytic ACC with focal extracapsular extension into the periadrenal adipose tissue with a Ki-67 of 15% and a peak mitotic count of 40/50 high-power fields. Conclusion ACC can be the only manifestation of LS. A best case-detection approach for ACC in the asymptomatic patient with LS is unclear, however urine steroid profiling could be considered.

Adrenocortical Carcinoma: Updates of Clinical and Pathological Features after Renewed World Health Organisation Classification and Pathology Staging

“…The first case of oncocytic ACC was confirmed in 1991 by electron microscopy showing the closely packed mitochondria in an ACC from a 56-year-old man [ 112 ]. Up to the year 2020, there were 56 cases of oncocytic ACC in the adrenal gland with documented features in the English literature [ 112 , 113 , 114 , 115 , 116 , 117 , 118 , 119 , 120 , 121 , 122 , 123 , 124 , 125 , 126 , 127 , 128 , 129 , 130 , 131 , 132 , 133 , 134 , 135 , 136 , 137 ]. Apart from these cases, a giant ectopic oncocytic ACC (280 mm in greatest dimension; 2250 g in weight) have been reported in a 26-year-old Hispanic woman in tissue around the left adrenal gland and kidney {Wadhwani 33,281,927} [ 138 ].…”

“…Oncocytic ACC with Conn syndrome (aldosterone secreting) without other hormonal changes was reported in detail only in a 25-year-old man from Canada [ 121 ]. A patient with oncocytic ACC with multi-hormonal syndromes was associated with Lynch syndrome [ 133 ].…”

Tumor Microenvironment in Adrenocortical Carcinoma: Barrier to Immunotherapy Success?

“…There have been several reports of patients with known Lynch syndrome, positive for germline MSH mutations, presenting with ACC [ 48 , 94 , 95 ]. In addition, a case of ACC as the only manifestation of Lynch syndrome, in a patient with family history of Lynch-associated cancers, has also been reported [ 96 ]. MSH2 mutation is the most common mutation reported among the existing cases of Lynch-associated ACC in the literature.…”

An incidental finding of pheochromocytoma in a 33-year-old patient with Lynch syndrome

“…Zároveň pribúdajú aj kazuistiky súčasného výskytu adrenokortikálneho karcinómu (ACC) u pacientov s Lynchovým syndrómom. Spájajú sa so zárodočnou mutáciou (patogénnym variantom) MSH6 i MSH2 génu (14,15). Podľa Kauura bol ACC hlásený až u 3.2 % pacientov s LS (14).…”

“…Spájajú sa so zárodočnou mutáciou (patogénnym variantom) MSH6 i MSH2 génu (14,15). Podľa Kauura bol ACC hlásený až u 3.2 % pacientov s LS (14).…”