Progressive metastatic pheochromocytoma induced by multiple endocrine neoplasia type 2A with a lethal outcome

Koshiro Nishimoto, Noriaki Lukas Santo, Masato Yonamine, Kazuhiro Takekoshi, Go Kaneko, Suguru Shirotake, Hisayo Fukushima, Yoshitaka Okada, Masanori Yasuda, Akihiro Sakurai, Masafumi Oyama, Kento Kanao

Research output: Contribution to journalArticlepeer-review

Abstract

Introduction: 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.

Original languageEnglish
Pages (from-to)459-463
Number of pages5
JournalIJU Case Reports
Volume5
Issue number6
DOIs
Publication statusPublished - 11-2022
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Urology

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