...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>American journal of medical genetics, Part A >Hepatoblastoma in a 15-month-old female with trisomy 13
【24h】

Hepatoblastoma in a 15-month-old female with trisomy 13

机译：一名15个月大且患有13三体症的女性肝母细胞瘤

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Trisomy 13 (T13) is a rare autosomal aneuploidy. Greater than 90% of patients die during the first year of life. Malignancies reported in association with T13 include two cases of Wilms tumor and one case of pilocytic astrocytoma. There is no previous report of hepatoblastoma in patients with T13. We report a unique case of hepatoblastoma in a 15-month-old female with constitutional T13. Our patient was born at 38 weeks gestation and was noted to have phenotypic features consistent with T13. Genetic testing confirmed an abnormal karyotype of 47,XX,+13 in all cells. At fifteen months of age she was noted to have a right hepatic lobe mass on a routine follow-up renal ultrasound for hydronephrosis. Serum alpha-fetoprotein level was 55,300ng/ml. Staging work-up revealed the absence of metastases. She underwent a complete surgical resection with right hepatic lobectomy. Histopathology was consistent with hepatoblastoma, mixed epithelial and mesenchymal type. She had a protracted postoperative course complicated by Enterobacter aerogenes urosepsis, a significant biloma, chronic pancreatitis, and apneic episodes of uncertain etiology. She received four courses of doxorubicin monotherapy without any severe or unexpected toxicity. She continues to be in remission 8 months following diagnosis. This is the first reported case of hepatoblastoma in a child with constitutional T13. This may represent a non-random association, as somatic trisomy of chromosome 13 in hepatoblastoma tumors has been previously described in the literature. Prolonged survival may have allowed for hepatoblastoma to present in our patient.
机译：13三体（T13）是一种罕见的常染色体非整倍性。超过90％的患者在生命的第一年死亡。与T13相关的恶性肿瘤包括2例Wilms肿瘤和1例细胞性星形细胞瘤。以前没有关于T13患者肝母细胞瘤的报道。我们报告了一个15岁的女性，患有体质性T13的肝母细胞瘤的独特病例。我们的患者出生在妊娠38周时，其表型特征与T13一致。基因检测证实所有细胞中的核型均为47，XX，+ 13。在15个月大时，她在常规肾超声检查中发现有正确的肝叶肿块，以治疗肾积水。血清甲胎蛋白水平为55,300ng / ml。分期检查显示无转移。她接受了右肝叶切除术的完整手术切除。组织病理学与肝母细胞瘤，上皮和间充质混合型一致。她的病程延长，并伴有产气肠杆菌，尿液，明显的胆汁瘤，慢性胰腺炎和病因不明的呼吸暂停。她接受了四个疗程的阿霉素单药治疗，没有任何严重或意外的毒性。诊断后八个月，她继续处于缓解状态。这是首例报告患有体质T13的儿童肝母细胞瘤的病例。这可能代表了非随机关联，因为先前已在文献中描述了肝母细胞瘤肿瘤中13号染色体的体细胞三体性。延长的生存期可能使肝母细胞瘤出现在我们的患者中。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号