Case Study Illuminates Adrenocortical Carcinoma’s Association with Lynch Syndrome

Adrenocortical carcinoma (ACC) can be the only manifestation in patients with Lynch syndrome – which is already associated with a higher risk of colorectal cancer and endometrial cancer – according to a paper recently published in the Journal of the Endocrine Society.

Researchers led by Irina Bancos, MD, of the Mayo Clinic in Rochester, Minn., point out that while ACC was reported in 3.2% of patients with LS, no particular case-detection strategies have been recommended. In this paper, the authors present a case study of a 65-year-old woman with a history of hypertension who was incidentally discovered to have a large adrenal mass after she presented with postmenopausal vaginal bleeding. This patient’s sister had recently been diagnosed with LS, so the investigators performed genetic tests, and the patient tested positive for familial pathogenic variant in MSH6, a variant that accounts for about 18% of LS cases. The team then performed a colonoscopy, which was normal.

The patient was mostly asymptomatic during clinical evaluation. She complained of some fatigue and loss of appetite and weight, but she attributed this to the stress of being diagnosed with an adrenal mass. She had no Cushingoid features, acne, or hirsutism. Her blood pressure was 135/83 mmHg, and she showed no clinical features suggestive of primary hyperaldosteronism, such edema or hypokalemia.

However, the authors write that a biochemical workup revealed evidence of androgen excess, elevated serum steroid precursors, and estrogen excess, and the patient demonstrated evidence of adrenocorticotropic hormone (ACTH) independent cortisol excess based on abnormal cortisol concentrations after 1 mg overnight dexamethasone administration, along with low ACTH and elevated 24-hour, urine-free cortisol. “Urine multisteroid profiling was performed and was highly suspicious for ACC,” the authors write. “Based on the clinical, biochemical, and imaging presentation, ACC was suspected, and adrenalectomy was recommended.” The patient was treated and remains in remission.

This case of a patient with LS whose only presentation was incidentally discovered ACC and had no other manifestations of LS is one of only 13 reported so far in the literature, according to the authors. It’s challenging to diagnose ACC when it’s asymptomatic, and even in patients with a genetic predisposition to ACC, the incidence is still too low to warrant imaging. “Steroid profiling is an attractive alternative that could help diagnose ACC much earlier in the natural history of the disease,” the authors write. “In our patient, steroid profiling confirmed our suspicion of ACC after discovery of adrenal mass. Whereas in this case, steroid profiling did not change our management, after appropriate validation, this test could be offered as a case-detection, noninvasive, and radiation-free test to patients at high risk for ACC.”

You may also like

  • Researchers Find Evidence of Novel Pathway in Regulation of Body Weight, Temperature

    Leptin receptor signaling in single-minded homolog gene (Sim1) neurons plays a role in the regulation of body weight and temperature, according to a mouse study recently published in Endocrinology. Researchers led by Masoud Ghamari-Langroudi, MD, PhD, of the Vanderbilt School of Medicine in Nashville, Tenn., point out that the obesity epidemic continues to grow, and…