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Abstract：
Peutz-Jeghers syndrome (PJS), a rare autosomal dominant serine/threonine kinase 11 (STK11)/ liver kinase B1 (LKB1) gene-related genodermatosis, is characterized by oral hyperpigmentation (OHP); multiple gastro-intestinal mucosal benign hamartomatous polyps causing local bleeding, occlusion, intussusception, post-resection small bowel syndrome, associated increased risk of small intestinal cancer (incidence during the third decade); and 76% cumulative higher risk than the global population of developing non-gastrointestinal tumors (female predominance) including ovarian/testicular neoplasia, pancreatic and gynecologic (breast, uterus, ovarian) cancers. Suggestive PJS-associated OHP requires STK11 genetic testing. Abdominal pain in an OHP patient may be related to PJS-associated polyps. Other features include focal depigmentation followed by hyperpigmentation, and xeroderma pigmentosum-like lesions. The severity of the dermatological findings is correlated with gastrointestinal polyps. The STK11 gene is linked to reserve of primordial follicles, polycystic ovary syndrome, female fertility, and spermatogenesis. PJS is associated with 2 types of ovarian sex-cord stroma tumors (SCSTs): annular tubules (SCTATs) and pure Sertoli cell tumors. SCSTs accounts for 8% of ovarian cancer and SCTATs represents 2% of SCST, which may be associated with the overproduction of progesterone. PJS-SCTAT vs. non-PJS-SCTAT reveals bilateral/multifocal, small tumors with a benign behavior vs. a unique ovarian, large tumor with increased malignant/metastasis risk. Male precocious puberty is due to large cell calcifying Sertoli cell tumors (LCCSCTs). Notably, 30-40% of LCCSCTs are caused by PJS or Carney complex. PJS-LCCSCT is not aggressive, but it may be bilateral/multifocal, with the ultrasound hallmark being micro-calcifications. Testicular, intra-tubular large cell hyalinizing Sertoli cell tumor is the second testicle neoplasia in PJS. The skin and mucosal lesions are useful markers of PJS, assisting with the early identification of hamartomatouspolyps and initiation of serial surveillance of ovarian, or testicular neoplasia.
摘要：
Peutz-Jeghers综合征（PJS），一种罕见的常染色体显性遗传性丝氨酸/苏氨酸激酶11（STK11）/肝激酶B1（LKB1）基因相关的遗传性皮肤病，以口腔色素沉着（OHP）为特征；多发性胃肠粘膜良性错构瘤性息肉引起局部出血，遮挡,肠套叠,切除后小肠综合征,与小肠癌相关的风险增加（第三个十年的发病率）；与全球人群相比，非胃肠道肿瘤（女性占优势）的累积风险更高76％，包括卵巢/睾丸肿瘤，胰腺和妇科(乳房，子宫,卵巢）癌症。建议与PJS相关的OHP需要进行STK11基因检测。OHP患者的腹痛可能与PJS相关息肉有关。其他特征包括局灶性色素脱失，然后是色素沉着过度，和色素性干皮病样病变。皮肤病学结果的严重程度与胃肠息肉相关。STK11基因与原始卵泡的储备有关，多囊卵巢综合征,女性生育能力,和精子发生。PJS与两种类型的卵巢性索间质肿瘤（SCSTs）有关：环形小管（SCTATs）和纯支持细胞肿瘤。SCSTs占卵巢癌的8%，SCTATs占SCST的2%，这可能与孕酮的过量生产有关。PJS-SCTATvs.非PJS-SCTAT显示双侧/多灶性，具有良性行为的小肿瘤与独特的卵巢,大肿瘤恶性/转移风险增加。男性性早熟是由于大细胞钙化支持细胞肿瘤（LCCSCT）。值得注意的是,30-40％的LCCSCT是由PJS或Carney复合物引起的。PJS-LCCSCT没有侵略性，但可能是双边/多病灶,超声标志是微钙化。睾丸,肾小管内大细胞透明化支持细胞肿瘤是PJS中的第二睾丸瘤。皮肤和粘膜病变是PJS的有用标记，协助早期识别错构瘤息肉和启动卵巢的系列监测，或睾丸瘤。
