Department of Oncology. Alder Hey Children's NHS Foundation Trust, Liverpool, UK.
Pediatr Blood Cancer. 2010 Jul 15;55(1):206-7. doi: 10.1002/pbc.22433.
We report a case of Peutz-Jeghers syndrome (PJS) in a 2-year old with precocious puberty secondary to a Sertoli-Leydig cell tumour. Family history of PJS and other neoplasms were discovered. The tumour was excised and the STK11 gene deletion identified in both patient and father. Screening revealed hamartomatous gastric polyps, which were removed. Current recommendations for screening of children with PJS begin at age 8 years, based on reported occurrence of complications 1. This report illustrates the importance of considering early screening, along with close clinical review and patient/parent education, for detection of life threatening neoplasms and complications.
我们报告了一例 2 岁患有早熟性青春期的 Peutz-Jeghers 综合征（PJS）病例，其继发于 Sertoli-Leydig 细胞瘤。发现患者有 PJS 和其他肿瘤的家族史。肿瘤被切除，患者和父亲的 STK11 基因缺失被确定。筛查发现错构性胃息肉，已将其切除。目前建议对 PJS 患儿进行筛查的起始年龄为 8 岁，这是基于已报道的并发症发生情况。本报告说明了考虑早期筛查的重要性，以及密切的临床评估和患者/家长教育，以发现危及生命的肿瘤和并发症。
