Open AccessProgressive metastatic pheochromocytoma induced by multiple endocrine neoplasia type 2A with a lethal outcome
Author(s) -
Nishimoto Koshiro,
Santo Noriaki Lukas,
Yonamine Masato,
Takekoshi Kazuhiro,
Kaneko Go,
Shirotake Suguru,
Fukushima Hisayo,
Okada Yoshitaka,
Yasuda Masanori,
Sakurai Akihiro,
Oyama Masafumi,
Kanao Kento
Publication year - 2022
Publication title -
iju case reports
Language(s) - English
Resource type - Journals
ISSN - 2577-171X
DOI - 10.1002/iju5.12514
Subject(s) - pheochromocytoma , multiple endocrine neoplasia type 2 , multiple endocrine neoplasia , medicine , metastasis , pathology , pathological , hyperparathyroidism , thyroid carcinoma , thyroid , cancer , gene , biology , mutation , germline mutation , biochemistry
Patients with multiple endocrine neoplasia type 2A (MEN2A) harboring a pathological variant in the RET gene are characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism. Although pheochromocytoma is currently defined as a malignant tumor, MEN2A‐associated pheochromocytoma is known to have a small risk of metastasis. Case presentation The case was a 62‐year‐old Japanese male with bilateral pheochromocytoma, multiple metastases in the liver and bones, and a cardiac thrombus. Genetic testing revealed a pathological variant at codon 634 of the RET gene, thereby leading a diagnosis of MTC. We considered that the multiple metastases were due to MTC; however, a liver biopsy revealed metastasis of pheochromocytoma. Conclusion When pheochromocytoma precedes MTC, the diagnosis of MEN2A may be difficult.