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

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

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Progressive 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.

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