Clinical Outcomes and Complications of Pituitary Blastoma.
Pituitary blastoma is a rare, dysontogenetic hypophyseal tumor of infancy first described in 2008, strongly suggestive of DICER1 syndrome.To describe genetic alterations, clinical courses, outcomes, and complications in all known pituitary blastoma cases.Design and Setting: Multi-institutional case series from tertiary pediatric oncology centers.Children with pituitary blastoma.Genetic testing, surgery, oncologic therapy, endocrine support.Survival, long-term morbidities, germline and tumor DICER1 genotypes.Seventeen pituitary blastoma cases were studied (10 female and 7 male); median age at diagnosis was 11 months (range 2-24). Cushing syndrome was the most frequent presentation (n=10). Cushingoid stigmata were absent in seven children (two with raised ACTH; five 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, nine patients were alive; eight patients died of 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 five of nine survivors. Extent of resection, but neither Ki67 labelling 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.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.