Despite progress in the treatment of diabetic macular edema and diabetic retinopathy, the rate of lower fundus examination due to limitations of medical resources delays the diagnosis and treatment of diabetic retinopathy. Therefore, implementation of automated diabetic retinopathy screening program and the identification of more specific and sensitive biomarkers are important for facilitating the earlier detection of diabetic macular edema and diabetic retinopathy to decrease the prevalence of poor vision and blindness.
Context Recent studies suggest that the clinical characteristics and biological behavior of pituitary tumors (PITs) in patients with multiple endocrine neoplasia type 1 (MEN1) may not be as aggressive as previously reported. Increased imaging of the pituitary as recommended by screening guidelines identifies more tumors, potentially at an earlier stage. However, it is unknown if these tumors have different clinical characteristics in different MEN1 mutations. Objective To assess characteristics of MEN1 patients with and without PITs, and compare between different MEN1 mutations. Methods Data of MEN1 patients in a tertiary referral center from 2010 to 2023 were retrospectively analyzed. Results Forty-two patients with MEN1 were included. Twenty-four patients had PITs, three of which were invasive and managed with transsphenoidal surgery. One PIT enlarged during follow-up. Patients with PITs had a higher median age at MEN1 diagnosis than those without PITs. MEN1 mutations were identified in 57.1% of patients, including five novel mutations. In patients with PITs, those with MEN1 mutations (mutation+/PIT + group) had more additional MEN1-associated tumors than those without (mutation−/PIT + group). The mutation+/PIT + group had a higher incidence of adrenal tumors and a lower median age at initial manifestation of MEN1 than mutation−/PIT + group. The most common neuroendocrine neoplasm was non-functional in the mutation+/PIT + group and insulin-secreting in the mutation−/PIT + group. Conclusions This is the first study comparing characteristics of MEN1 patients with and without PITs harboring different mutations. Patients without MEN1 mutations tended to have less organ involvement and might be reasonable to receive less intensive follow-up.
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