RESUMEN
Adrenocortical carcinoma (ACC) is a malignancy of the adrenal cortex with a high morbidity and mortality. More than half of the cases are functional tumors. As different hormones can be co-secreted above physiologic levels, it causes a very broad variety of symptoms and makes differentiating from more common entities hard. Here we present a case of a patient with a newly diagnosed ACC who initially presented with acute pulmonary embolism and recurrent deep vein thromboses (DVT) in the setting of hypercortisolism. Imaging showed a left adrenal mass invading adjacent structures including a nonocclusive thrombus in the left renal vein. Intravenous anticoagulation and thrombectomy were initially performed, followed by removal of the tumor and adjacent metastatic disease. Pathology confirmed ACC. The patient underwent left adrenalectomy, left nephrectomy, splenectomy, distal pancreatectomy, and caval thrombectomy with inferior vena cava (IVC) filter placement. Intravenous anticoagulation and glucocorticoid replacement were also administered as part of the treatment plan. Unfortunately, the patient had multiple episodes of bleeding and thrombosis and was eventually discharged to hospice care. DVT in the setting of ACC can be caused by increased hypercoagulability from hypercortisolism, direct venous thrombosis, or vascular invasion. Thrombosis, especially in the inferior vena cava, has been associated with poor prognosis and survival rates. Clinicians should be aware of this rare complication given its immediate therapeutic repercussions and prognostic value.
RESUMEN
A 65-year-old man with a history of Hashimoto's thyroiditi on Levothyroxine developed Graves' disease with ocular symptoms and was treated with teprotumumab without improvement. Total thyroidectomy was performed to control hyperthyroidism. Surgical pathology revealed multifocal papillary thyroid carcinoma. Rarely, a spectrum of thyroid disorders is seen in a single patient.
RESUMEN
BACKGROUND: Pheochromocytoma/paraganglioma is a rare tumor from neuroendocrine cells. 1/3rd of cases have germline mutations. Papillary thyroid carcinoma (PTC) is a common neoplasm from follicular cells of the thyroid. We report a case of pheochromocytoma/paraganglioma and PTC with negative testing for common mutations. CASE: 32-year-old male with incidental liver mass during laparoscopy for acute appendicitis. His symptoms included abdominal pain and profuse axillary hyperhidrosis. MRI showed an 11x12x14 cm cystic and solid mass in right adrenal gland, and 3.4x2.9x3.8 cm mass in porta hepatis. Urine metanephrines was elevated. After preoperative alpha-blockade, patient underwent total right adrenalectomy. Pathology report confirmed diagnosis of pheochromocytoma. According to the Grading system for Adrenal Pheochromocytoma and Paraganglioma (GAPP), tumor's score was 9, indicating poorly differentiated tumor. Ki67 index 5% and S100 were negative. Postoperatively, plasma free metanephrines normalized but plasma free normetanephrines remained elevated. Based on this biochemical profile, presence of paraganglioma was suspected. CT showed 4.2x3.5 cm round soft tissue mass in porta hepatis which increased in size from previous MRI. Simultaneously, PET scan identified a 1.5 cm thyroid mass. Calcitonin level was normal. Fine-needle aspiration was consistent with PTC. Resection of the mass and total thyroidectomy were performed with confirmation of paraganglioma S100 positive and PTC. Normetanephrines decreased to 283 (<148 pg/mL); free metanephrines remained normal. Gene mutation of EGLN1, FH, KIF1B, MEN1, NF1, RET, SDHAF2, SDHC, SDHD, TMEM127, VHL, and SDHA was negative. CONCLUSION: Whether paraganglioma/pheochromocytoma/PTC combination is coincidental or resulted from an underlying unknown mutation cannot be excluded.
RESUMEN
INTRODUCTION: Molecular thyroid testing is increasingly being used to further stratify risk of malignancy in cytologically indeterminate thyroid nodules. We report our experience using three commercially available tests in a community hospital setting. MATERIALS AND METHODS: All molecular test reports (Afirma, ThyroSeqV2, and ThyGENX/ThyraMIR) on thyroid nodules from Einstein Medical Center, Philadelphia, between April 2014 to March 2017 were compared with follow-up surgical results as part of a quality assurance exercise. Slides and records of disparities were reviewed. RESULTS: Ninety-five thyroid nodules with molecular testing were identified with surgical follow up available on 19. No benign Afirma results had surgical follow-up. All 7 suspicious Afirma results had surgery, with 3 being benign on follow-up. Ten ThyroseqV2 tested nodules had follow-up surgery and included 2 papillary carcinomas following a completely negative result and another papillary carcinoma following over expression of the NIS gene reported as likely benign. One case with a TP53 mutation was benign on follow-up total thyroidectomy. Follow-up on 1 NRAS point mutation by ThyGenX/ThyraMIR was confirmed malignant although the microRNA portion of the test was negative. CONCLUSIONS: Quality assurance review refined our utilization practices as we better appreciated the limitations of molecular testing and use relative to other factors in managing indeterminate thyroid nodules.
RESUMEN
OBJECTIVE: To present a case of hypercalcemia associated with thyrotoxicosis in a patient with vitamin D deficiency and review biochemical changes during the course of treatment. METHODS: We report a case, describe the changes in serum calcium, phosphorus, parathyroid hormone in Graves' disease and concomitant Vitamin D deficiency. We compare our findings to those reported in literature. RESULTS: Our patient had hypercalcemia secondary to thyrotoxicosis alone, which was confirmed by low parathyroid hormone level and resolution of hypercalcemia with treatment of thyrotoxicosis. The case was complicated by a concomitant vitamin D deficiency. Serum calcium elevation in patients with thyrotoxicosis occurs secondary to hyperthyroidism alone or due to concurrent hyperparathyroidism. Hypercalcemia from thyrotoxicosis is usually asymptomatic and is related to bone resorption. Vitamin D deficiency can be seen in patients with thyrotoxicosis because of accelerated metabolism, poor intestinal absorption and increased demand during bone restoration phase. Coexistence of hypercalcemia and Vitamin D deficiency in patients with thyrotoxicosis is rare, but possible, and 25-hydroxyvitamin D levels should be checked. The definite treatment for hypercalcemia in thyrotoxicosis is correction of thyroid function. CONCLUSION: Hypercalcemia in thyrotoxicosis should be distinguished from concomitant hyperparathyroidism and confirmed by resolution of hypercalcemia with control of thyrotoxicosis. Patients with hypercalcemia and thyrotoxicosis may also have vitamin D deficiency and 25-OH Vitamin D levels should be checked.