Giardiello F M, Brensinger J D, Tersmette A C, Goodman S N, Petersen G M, Booker S V, Cruz-Correa M, Offerhaus J A
Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Gastroenterology. 2000 Dec;119(6):1447-53. doi: 10.1053/gast.2000.20228.
BACKGROUND & AIMS: The Peutz-Jeghers syndrome (PJS) is an autosomal dominant polyposis disorder with increased risk of multiple cancers, but literature estimates of risk vary.
We performed an individual patient meta-analysis to determine the relative risk (RR) of cancer in patients with PJS compared with the general population based on 210 individuals described in 6 publications.
For patients with PJS, the RR for all cancers was 15.2 (95% confidence limits [CL], 2, 19). A statistically significant increase of RR was noted for esophagus (57; CL, 2.5, 557), stomach (213; CL, 96, 368), small intestine (520; CL, 220, 1306), colon (84; CL, 47, 137), pancreas (132; CL, 44, 261), lung (17.0; CL, 5.4, 39), breast (15.2; CL, 7.6, 27), uterus (16.0; CL, 1.9, 56), ovary (27; CL, 7.3, 68), but not testicular or cervical malignancies. Cumulative risk for all cancer was 93% from age 15 to 64 years old.
Patients with PJS are at very high relative and absolute risk for gastrointestinal and nongastrointestinal cancers.
黑斑息肉综合征（PJS）是一种常染色体显性遗传的息肉病，患多种癌症的风险增加，但文献中的风险估计各不相同。
我们进行了一项个体患者荟萃分析，以根据6篇出版物中描述的210名个体，确定PJS患者与普通人群相比患癌的相对风险（RR）。
对于PJS患者，所有癌症的RR为15.2（95%置信区间[CL]，2，19）。食管（57；CL，2.5，557）、胃（213；CL，96，368）、小肠（520；CL，220，1306）、结肠（84；CL，47，137）、胰腺（132；CL，44，261）、肺（17.0；CL，5.4，39）、乳腺（15.2；CL，7.6，27）、子宫（16.0；CL，1.9，56）、卵巢（27；CL，7.3，68）的RR有统计学显著增加，但睾丸或宫颈恶性肿瘤未增加。15至64岁所有癌症的累积风险为93%。
PJS患者患胃肠道和非胃肠道癌症的相对和绝对风险都非常高。
