Suspected Phaeochromocytoma in a Patient with MEN2A and Negative [68Ga]Ga-DOTA-TATE & [18F]FDOPA PET/CT Imaging: A Diagnostic Challenge
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Background: Multiple endocrine neoplasia type 2A (MEN2A) is a hereditary cancer syndrome defined by medullary thyroid carcinoma (MTC), phaeochromocytoma (PCC), and primary hyperparathyroidism. Functional imaging using [ 68 Ga]Ga-DOTA-TATE and [ 18 F]FDOPA PET/CT plays an increasing role in PCC localisation. Case Presentation: We report the case of a 50-year-old woman with confirmed PCC in the setting of MEN2A without focal [ 68 Ga]Ga-DOTA-TATE or [ 18 F]FDOPA PET uptake in the suspicious adrenal lesion. Histopathology following surgical excision confirmed the diagnosis of PCC. Conclusions: This case emphasises the need for integrating clinical and biochemical, testing with radiologic and molecular imaging approaches in hereditary PCC syndromes, highlighting limitations of current imaging paradigms.