Division of Neuro-Oncology, Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Department of Pediatrics, Section of Pediatric Endocrinology, Children's Hospital Colorado and University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
J Clin Endocrinol Metab. 2021 Jan 23;106(2):351-363. doi: 10.1210/clinem/dgaa857.
Pituitary blastoma is a rare, dysontogenetic hypophyseal tumor of infancy first described in 2008, strongly suggestive of DICER1 syndrome.
This work aims to describe genetic alterations, clinical courses, outcomes, and complications in all known pituitary blastoma cases.
A multi-institutional case series is presented from tertiary pediatric oncology centers.
Patients included children with pituitary blastoma.
Genetic testing, surgery, oncologic therapy, endocrine support are reported.
Outcome measures included survival, long-term morbidities, and germline and tumor DICER1 genotypes.
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.
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.
垂体胚细胞瘤是一种罕见的、发育不良的垂体肿瘤，于 2008 年首次描述，强烈提示 DICER1 综合征。
本研究旨在描述所有已知垂体胚细胞瘤病例的遗传改变、临床过程、结局和并发症。
呈现了来自三级儿科肿瘤中心的多机构病例系列。
患者包括垂体胚细胞瘤患儿。
报告了遗传检测、手术、肿瘤学治疗、内分泌支持。
研究了 17 例垂体胚细胞瘤病例（10 名女孩和 7 名男孩）；中位诊断年龄为 11 个月（范围，2-24 个月）。库欣综合征是最常见的表现（n=10）。7 例患儿（2 例促肾上腺皮质激素[ACTH]升高；5 例 ACTH 正常/未测）无库欣征。还观察到眼肌麻痹和颅内压升高。手术包括大体/近全切除（n=7）、次全切除（n=9）和活检（n=1）。6 例患儿接受辅助治疗。中位随访 6.7 年后，9 例患儿存活；8 例患儿死亡，原因如下：早期医疗/手术并发症（n=3）、败血症（n=1）、导管相关并发症（n=1）、动脉瘤性出血（n=1）、第二个脑肿瘤（n=1）和进展（n=1）。5 例幸存者仅接受手术治疗。无显著生存相关的因素包括肿瘤切除程度、Ki67 标记指数和辅助治疗。慢性并发症包括神经内分泌（n=8）、视觉（n=4）和神经发育（n=3）缺陷。16 例垂体胚细胞瘤归因于 DICER1 异常。
垂体胚细胞瘤是一种局部破坏性肿瘤，死亡率高。单独手术切除可为一些患者提供长期疾病控制。通过长期神经内分泌管理可以实现高质量的生存。
