Choroidal metastasis as the initial presentation of medullary thyroid carcinoma (MTC) is very rare and challenging to diagnose, a case report and literature review published in the International Journal of Surgery Case Reports concluded.
“Surgeons need a high index of suspicion when ocular symptoms accompany a neck mass or thyroid-related symptoms,” the researchers wrote. They added that palliative surgery followed by stereotactic radiosurgery and treatment with selpercatinib is a promising therapeutic approach.
MTC is a rare type of neuroendocrine tumor of the thyroid gland. Choroidal metastasis as the initial presentation is even rarer and is very difficult to diagnose.
Read more about MTC diagnosis
In the present study, a team of researchers led by Abdelrahman Abdelaal, MD, from the department of general surgery at Hamad General Hospital in Doha, Qatar present the case of a 38-year-old man who presented with decreased vision in his right eye for 3 weeks.
Using imaging methods, the authors diagnosed the patient with metastatic MTC that presented as a choroidal mass. The tumor had also spread to the lungs, bones, brain, pituitary gland, liver, and mediastinum.
The patient was treated with total thyroidectomy and left neck dissection. This was followed by stereotactic radiosurgery for his right orbit and pituitary gland. He was then treated with anti-RET therapy with selpercatinib.
At the 5-month follow-up, there were dramatic drops in the tumor marker CEA (carcinoembryonic antigen) and calcitonin.
A literature review of published cases of MTC presenting with choroidal involvement led the authors to conclude that MTC presenting as ocular symptoms due to a choroidal mass had not been reported previously.
The researchers stated, “Further research to investigate the role of radiation therapy in the palliation and local control of postresection and advanced stage MTC are required.” They added that palliative therapy may still be the best treatment choice for many cases of metastatic MTC.
Al Hassan MS, El Ansari W, Alater A, Darweesh A, Abdelaal A. Choroidal metastasis as initial presentation of aggressive medullary thyroid carcinoma with widespread mediastinal, brain, pituitary, bone, lung, and liver metastasis: case report and literature review. Int J Surg Case Rep. Published online September 16, 2021. doi:10.1016/j.ijscr.2021.106419