Most cases of adrenocortical carcinoma (ACC) are sporadic; however, some occur as a part of a hereditary syndrome, such as Li-Fraumeni syndrome, multiple endocrine neoplasia type 1, familial adenomatous polyposis, neurofibromatosis type 1, Beckwith-Wiedemann syndrome, or Lynch syndrome. Here we present an incidentally discovered ACC in a patient with undiagnosed Lynch syndrome.
This 65-year-old woman was initially evaluated for postmenopausal vaginal bleeding. Transvaginal ultrasound showed endometrial thickening and several uterine fibroids, and subsequent histology demonstrated benign endometrial hyperplasia. Incidentally, on the initial ultrasound, a large right adrenal mass was noted. Subsequent computed tomography (CT) scan revealed a heterogeneous right adrenal mass, measuring 7.8 × 6.0 × 5.1 cm ( Fig. 31.1 ). The patient was referred to Mayo Clinic for further management of the adrenal mass.
On evaluation, the patient reported fatigue and a weight loss of 3 pounds over several weeks. On physical examination, her blood pressure was 135/83 mmHg and body mass index was 24.7 kg/m 2 . She did not have any signs of androgen, cortisol, or aldosterone excess.
Recently, her sister was diagnosed with Lynch syndrome. Subsequently, our patient was also tested and found positive for a familial pathogenic variant in MutS homolog 6 (MSH6) . Colonoscopy, performed several months previously, was normal.
Laboratory evaluation showed normal levels of 24-hour urinary metanephrine and normetanephrine but was positive for androgen precursor and androgen excess, hypercortisolism, and estrogen excess ( Table 31.1 ).
|Biochemical Test||Result||Reference Range|
|Cortisol after overnight 1-mg DST, mcg/dL||13||<1.8|
|Total testosterone, ng/dL||30||8–60|
|Estradiol, pg/mL||113||<10 (postmenopausal)|
|Plasma renin activity, ng/mL per hour||2||≤0.6–3|
|24-Hour urine cortisol, mcg/24 h||68||<45|
|24-Hour urine metanephrine,mcg/24 h||68||<400|
|24-Hour urine normetanephrine, mcg/24 h||340||<900|