Adrenocortical Carcinoma Presenting in an Adult Patient with Lynch Syndrome

Presentation Number: MON 421
Date of Presentation: April 3rd, 2017

Allison Bigeh1, Yoosif Abdalla2, Kanaan Abow alkhier3, Mohamad Horani4 and Mohamad Hosam Horani*5
1AT. Still University, CHANDLER, 2Banner Casa Grande, 3Arizona Oncology, 4Arizona College Prep, 5Alsham Endocrinology, Chandler, AZ


Background: Adrenocortical carcinoma (ACC) is extremely rare and has a very dismal prognosis. Due to its predominance in children, comprising only 0.02% to 0.2% of all adult cancers in the United States, limited cases have been studied. Multiple mechanisms of occurrence have been implicated with ACC. These range from sporadic occurrence to genetic mutation patterns seen in Li-Fraumeni syndrome, familial adenomatous polyposis, MEN1, and Lynch syndrome.

Case: A 35-year-old male with history of metastatic ACC status post adrenalectomy presented to the emergency department while on vacationing from California. He was in acute distress with profound hypertension, tachycardia and back pain. Labs revealed a critical potassium value of 2.0 (N=3.5-5.0 mmol/L) with classic ST depression and prominent U waves on EKG. Both a.m. serum cortisol and 24-hr urine free cortisol were elevated at 63 (N=10-20 mcg/dL) and 4300 (N=27-150 nmol/day) respectively. He was diagnosed with Cushing’s syndrome, given ketoconazole to lower cortisol levels, and both spironolactone and potassium chloride to increase potassium levels. On further workup DHEAS, free testosterone, and catecholamines were also elevated, indicative of pseudo-pheochromocytoma. During the first week of admission, potassium gradually normalized; however, lowering cortisol was limited due to worsening transaminitis secondary to ketoconazole use and liver metastasis. Further records were received during the second week of admission confirming a Lynch syndrome workup, positive for the HNPCC gene mutation. Mild symptomatic control was obtained with increasing doses of ketoconazole and high dose labetalol, hydralazine, and terazosin. Due to progression of the ACC disease process, the patient opted for palliative care.

Conclusion: There are several well-known cancer associations with Lynch syndrome including colorectal and endometrial carcinoma. Some studies have shown up to an 80% lifetime risk for colorectal carcinoma, necessitating early screening measures and interventions. This case highlights the importance of considering ACC in patients with Lynch syndrome. Early detection and recognition are crucial given the limited treatment options and arduous disease process course. This case argues a potential utility in screening patients with Lynch syndrome as well as treating those identified earlier in their disease process.


Nothing to Disclose: AB, YA, KA, MH, MHH