由于家族/个人病史中的病理信息丢失或错误导致黑斑息肉综合征的诊断延迟。
Delayed diagnosis of Peutz-Jeghers syndrome due to pathological information loss or mistake in family/personal history.
作者信息
Jiang Yu-Liang, Xu Xiao-Dong, Li Bai-Rong, Yu En-Da, Zhao Zi-Ye, Liu Hong
机构信息
Department of Gastroenterology, Beijing Shijitan Hospital, Capital Medical University, 10 Tieyi Rd., Beijing, 100038, China.
Department of Colorectal Surgery and Hereditary Colorectal Cancer Registry, Changhai Hospital, 168 Changhai Rd., Shanghai, 200433, China.
出版信息
Orphanet J Rare Dis. 2021 Jun 8;16(1):261. doi: 10.1186/s13023-021-01900-7.
OBJECTIVE
To report Peutz-Jeghers syndrome (PJS) cases with non-definitive clues in the family or personal history and finally diagnosed through pathological examination and STK11 gene mutation test.
CLINICAL PRESENTATION AND INTERVENTION
PJS was suspected in 3 families with tortuous medical courses. Two of them had relatives departed due to polyposis or colon cancer without pathological results, and the other one had been diagnosed as hyperplastic polyposis before. Diagnosis of PJS was confirmed by endoscopy and repeated pathological examinations, and the STK11 mutation test finally confirmed the diagnosis at genetic level, during which 3 novel mutation were detected (536C > A, 373_374insA, 454_455insGGAGAAGCGTTTCCCAGTGTGCC).
CONCLUSION
Early diagnosis of PJS is important and may be based on a family history with selective features among family members, and the pathological information is the key. The novel mutations also expand the STK11 variant spectrum.
目的
报告家族史或个人史中无明确线索、最终经病理检查及STK11基因突变检测确诊的黑斑息肉综合征（PJS）病例。
临床表现与干预
3个家族病程曲折，怀疑患有PJS。其中2个家族有亲属因息肉病或结肠癌去世，但无病理结果，另1个家族之前被诊断为增生性息肉病。通过内镜检查和反复病理检查确诊为PJS，STK11突变检测最终在基因水平上确认了诊断，在此过程中检测到3种新突变（536C＞A、373_374insA、454_455insGGAGAAGCGTTTCCCAGTGTGCC）。
结论
PJS的早期诊断很重要，可能基于家族成员中具有选择性特征的家族史，病理信息是关键。新突变也扩展了STK11变异谱。
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