IJU case reports · 2022
Progressive metastatic pheochromocytoma induced by multiple endocrine neoplasia type 2A with a lethal outcome.
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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
Аннотация
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.
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.