Adrenocortical Carcinoma Associated With Lynch Syndrome

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.

Case Report

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.

Fig. 31.1

Axial (bottom) and coronal (top) contrast-enhanced computed tomography images showed a heterogeneous right adrenal mass (arrows) measuring 4.8 × 5.7 × 7.9 cm.

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 ).

TABLE 31.1

Laboratory Tests

Biochemical Test Result Reference Range
Cortisol after overnight 1-mg DST, mcg/dL 13 <1.8
Cortisol, mcg/dL 14 7–21
ACTH, pg/mL <5 7.2–63
DHEA-S, mcg/dL 403 <15–157
Androstenedione, ng/dL 151 30–200
17-Hydroxyprogesterone, ng/dL 167 <51
17-Hydroxypregnenolone, ng/dL 888 31–455
Total testosterone, ng/dL 30 8–60
Estradiol, pg/mL 113 <10 (postmenopausal)
Aldosterone, ng/dL 20 <21
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

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Aug 8, 2022 | Posted by in ENDOCRINOLOGY | Comments Off on Adrenocortical Carcinoma Associated With Lynch Syndrome

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