Category: Pituitary Disorders/Neuroendocrinology
Carcinoids are well differentiated neuroendocrine tumors (NET), the detection rate of which is increasing, owing to increasing utility of radiographic procedures for other purposes. We present a case of bilateral adrenal nodules suspicious for pheochromocytoma with incidental finding of concurrent small bowel carcinoid in the setting of normal genetic sequencing.
An 80-year-old female with history of thyroid mass (excised at 22 years old), essential hypertension and generalized anxiety disorder presented with intermittent diaphoresis and anxiety. Family history was significant for early-onset breast cancer. She denied tremors, palpitations, flushing, and diarrhea. She was hypertensive (206/116 mmHg), tachycardic (112/min), and extremely diaphoretic.
Results : Initial workup was significant for elevated metanephrine at 3.77 (ref 68Ga-labeled somatostatin analogue PET/CT showed activity in both adrenal glands, but also a radiotracer avid focus within the small bowel suggestive of NET. Octreotide scan was negative. Genetic sequencing was without any pathogenic variant in the 21 genes that were analyzed (ATM, BRCA1, BRCA2, CHEK2, PALB2, PTEN, TP53, EGLN1, FH, KIF1B, MAX, MEN1, NF1, RET, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL genes). The patient underwent bilateral adrenalectomy and small bowel resection including lymphadenectomy of TI and appendectomy. Post-operative pathology confirmed carcinoid of the small bowel, left adrenal pheochromocytoma, and a benign right adrenal adenoma.
The co-occurrence of two rare NETs (pheochromocytoma and carcinoid) in the same patient is extremely uncommon in clinical practice. Pheochromocytoma (incidence: 1-4/106) classically presents with episodic hypertension, palpitations, diaphoresis, and headaches. Carcinoid (incidence: 1-2/106) may present as carcinoid syndrome with flushing and diarrhea, or may be an incidental finding.
Conclusion : Genetic workup on every pheochromocytoma is not appropriate or cost-effective, but given the patient’s personal history of a thyroid mass, family history of early-onset breast cancer, and co-existent carcinoid tumor, genetic analysis was deemed appropriate, despite the negative results.
Somerdale, New Jersey
PGY-II in Internal Medicine at Reading Hospital. Interested in pursuing Endocrinology fellowships
PGY-II in Internal Medicine at Reading Hospital
Hospitalist at Reading Hospital. Interested in pursuing Endocrinology.