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

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‐asso...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626320/
https://www.ncbi.nlm.nih.gov/pubmed/36341186
http://dx.doi.org/10.1002/iju5.12514
Descripción
Sumario: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.

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