RESUMEN
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 patients with MEN1 with and without PITs, and compare among different MEN1 mutations. METHODS: Data of patients with MEN1 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, 3 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 5 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 the mutation-/PIT+ group. The most common neuroendocrine neoplasm was nonfunctional in the mutation+/PIT+ group and insulin-secreting in the mutation-/PIT+ group. CONCLUSION: This is the first study comparing characteristics of patients with MEN1 with and without PITs harboring different mutations. Patients without MEN1 mutations tended to have less organ involvement and it might be reasonable for them to receive less intensive follow-up.
Asunto(s)
Neoplasia Endocrina Múltiple Tipo 1 , Neoplasias Hipofisarias , Humanos , Neoplasia Endocrina Múltiple Tipo 1/patología , Neoplasias Hipofisarias/epidemiología , Neoplasias Hipofisarias/genética , Neoplasias Hipofisarias/patología , Estudios Retrospectivos , Mutación , Hipófisis/patologíaRESUMEN
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.