Gorji Leva, Huish Grant, Morgan Joshua, Levy Paul
Kettering Health - Washington Township, Department of Surgery, Washington Township, OH, USA.
J Surg Case Rep. 2022 Mar 9;2022(3):rjac070. doi: 10.1093/jscr/rjac070. eCollection 2022 Mar.
Peutz-Jeghers syndrome (PJS) is an autosomal dominant mutation of the STK11/LKB1 gene on chromosome 19 often characterized by mucocutaneous pigmentation, hamartomatous polyps, anemia, gastrointestinal bleeding and intussusception. We present the case of a 21-year-old female with no pertinent family history who received the diagnosis of PJS after presenting to the hospital with two episodes intussusception. Patients with PJS have an increased lifetime risk of developing stomach, small bowel, colon, pancreatic, breast, cervical, uterus and testicular cancer requiring religious surveillance at an early age.
黑斑息肉综合征（PJS）是19号染色体上STK11/LKB1基因的常染色体显性突变，其特征通常为黏膜皮肤色素沉着、错构瘤性息肉、贫血、胃肠道出血和肠套叠。我们报告一例21岁女性病例，该患者无相关家族病史，因两次肠套叠入院后被诊断为PJS。PJS患者一生中患胃癌、小肠癌、结肠癌、胰腺癌、乳腺癌、宫颈癌、子宫癌和睾丸癌的风险增加，因此需要在幼年时进行严格监测。
