AI Article Synopsis
- * A 62-year-old Japanese man was diagnosed with bilateral pheochromocytoma and metastases in his liver and bones, along with a cardiac thrombus, highlighting the aggressive nature of the disease.
- * The case emphasizes the diagnostic challenges in MEN2A when pheochromocytoma occurs before MTC, which complicates identifying the source of metastasis.
Article 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.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626320 | PMC |
| http://dx.doi.org/10.1002/iju5.12514 | DOI Listing |
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