Abstract
Background: Adrenal incidentaloma are masses that are found coincidentally on radiologic imaging usually performed for indications other than evaluation for adrenal disease. Pheochromocytomas are rare, usually sporadic catecholamine-producing adrenal tumors and represent 5% of adrenal incidentalomas. While pheochromocytomas can present on their own, they can also present as part of a spectrum of disease found in certain familial syndromes. We present a case of pheochromocytoma found in a patient with a history of renal cell carcinoma and fallopian tube leiomyoma.
Case Presentation: A 67 year old female with a past medical history of diabetes mellitus type II, end stage renal disease on hemodialysis, hypertension, skin cancer, right fallopian tube leiomyoma, and right renal mass suspected for renal cell carcinoma presented to the clinic for evaluation of a left adrenal mass. Left adrenal mass was incidentally found 3 years ago on CT abdomen for evaluation for renal transplant and noted to be 2.2 cm in diameter. There were also incidental findings of a 1.3cm right renal mass and a 5.6x4.8cm right adnexal mass. Patient underwent robot assisted total laparoscopic hysterectomy with bilateral salpingo-oophrectomy and surgical pathology results showed leiomyoma of the myometrium. Surveillance CT imaging done 3 years after showed the left adrenal mass and right renal mass increased in size with the adrenal mass increasing to 4.3 cm in diameter with central necrosis and right renal mass increasing to 3.2 x 1.3 cm. Screening biochemical test were done, and initial test and confirmatory test confirmed pheochromocytoma. Dexamethasone suppression test and aldosterone/renin ratio results were normal. Surgical pathology confirmed pheochromocytoma and biopsy of the right renal mass 8 months later confirmed renal cell carcinoma.
Conclusion: Majority of pheochromocytomas are sporadic but up to 40% have been identified as inherited in origin due germline mutations. They have been known to present as a part of a spectrum of disease pathologies specific for certain familial syndromes such as Neurofibromatosis Type 1, Von Hippel Lindau Syndrome, Multiple Endocrine Neoplasia Type 2, and Familial Paragangliomas. One relatively uncommon syndrome, Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome due to a mutation in the fumarate hydratase gene, has been known to present with pheochromocytoma in rare cases. Our patient presented with pheochromocytoma, renal cell carcinoma, and uterine leiomyoma which is suspicious for Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. The diagnosis was not confirmed as genetic testing was not done. Due to a high rate of inherited patterns of pheochromocytoma, routine genetic testing should be done as identification of gene mutations may lead to diagnosis, treatment, and surveillance for patients and their relatives.
A Case of Metastatic Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome-Associated Renal Cell Carcinoma Treated with a Sequence of Axitinib and Nivolumab Following Cytoreductive Nephrectomy
