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• W3109713040 abstract "Abstract Context Pituitary blastoma is a rare, dysontogenetic hypophyseal tumor of infancy first described in 2008, strongly suggestive of DICER1 syndrome. Objective This work aims to describe genetic alterations, clinical courses, outcomes, and complications in all known pituitary blastoma cases. Design and Setting A multi-institutional case series is presented from tertiary pediatric oncology centers. Patients Patients included children with pituitary blastoma. Interventions Genetic testing, surgery, oncologic therapy, endocrine support are reported. Outcome Measures Outcome measures included survival, long-term morbidities, and germline and tumor DICER1 genotypes. Results Seventeen pituitary blastoma cases were studied (10 girls and 7 boys); median age at diagnosis was 11 months (range, 2-24 months). Cushing syndrome was the most frequent presentation (n = 10). Cushingoid stigmata were absent in 7 children (2 with increased adrenocorticotropin [ACTH]; 5 with normal/unmeasured ACTH). Ophthalmoplegia and increased intracranial pressure were also observed. Surgical procedures included gross/near-total resection (n = 7), subtotal resection (n = 9), and biopsy (n = 1). Six children received adjuvant therapy. At a median follow-up of 6.7 years, 9 patients were alive; 8 patients died of the following causes: early medical/surgical complications (n = 3), sepsis (n = 1), catheter-related complication (n = 1), aneurysmal bleeding (n = 1), second brain tumor (n = 1), and progression (n = 1). Surgery was the only intervention for 5 of 9 survivors. Extent of resection, but neither Ki67 labeling index nor adjuvant therapy, was significantly associated with survival. Chronic complications included neuroendocrine (n = 8), visual (n = 4), and neurodevelopmental (n = 3) deficits. Sixteen pituitary blastomas were attributed to DICER1 abnormalities. Conclusions Pituitary blastoma is a locally destructive tumor associated with high mortality. Surgical resection alone provides long-term disease control for some patients. Quality survival is possible with long-term neuroendocrine management." @default.
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• W3109713040 date "2020-11-25" @default.
• W3109713040 modified "2023-10-03" @default.
• W3109713040 title "Clinical Outcomes and Complications of Pituitary Blastoma" @default.
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• W3109713040 doi "https://doi.org/10.1210/clinem/dgaa857" @default.
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