Perinatal Detection of Familial Adenomatous Polyposis

被引：6

作者：

Birsner, Meredith L.

Hoover-Fong, Julie

Telegrafi, Aida Bytyci

Hueppchen, Nancy A.

机构：

[1] Johns Hopkins Univ, Dept Gynecol & Obstet, Div Maternal Fetal Med, Baltimore, MD USA

[2] Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Baltimore, MD USA

来源：

OBSTETRICS AND GYNECOLOGY | 2012年 / 120卷 / 02期

关键词：

HEPATOBLASTOMA; TUMORS; FETAL;

D O I：

10.1097/AOG.0b013e31825f377f

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

BACKGROUND: Hepatoblastoma is an uncommon fetal neoplasm that may represent an isolated malignancy or a component of a familial cancer or syndromic diagnosis. CASE: A large fetal liver mass was detected on routine ultrasound examination of a 23-year-old woman with thyroid nodules and hypertension. Inferior vena cava compression prompted delivery; postnatal biopsy revealed hepatoblastoma. Maternal thyroid biopsy revealed papillary carcinoma. Neonatal and maternal cyto-molecular analysis revealed APC gene disruption at 5q22.2. Pedigree analysis exposed multigenerational colon cancer and thyroid cancer, which in conjunction with genetic testing is consistent with familial adenomatous polyposis. CONCLUSION: This is a novel means of familial adenomatous polyposis diagnosis. Obstetricians and perinatologists should be alert for familial cancer or syndromic diagnoses presenting as fetal neoplasms. (Obstet Gynecol 2012;120:500-3) DOI: 10.1097/AOG.0b013e31825f377f

引用

页码：500 / 503

页数：5

共 10 条

[1] Relationships between perinatal and maternal characteristics and hepatoblastoma: a report from the UKCCS [J].