4.5 Article

Delayed diagnosis of Peutz-Jeghers syndrome due to pathological information loss or mistake in family/personal history

期刊

ORPHANET JOURNAL OF RARE DISEASES
卷 16, 期 1, 页码 -

出版社

BMC
DOI: 10.1186/s13023-021-01900-7

关键词

Peutz-Jeghers syndrome; STK11 gene; Hamartoma; Polyposis; Enteroscopy

资金

  1. National Key R&D Program of China [2017YFC1308800]
  2. Science and Technology Support Program (Medicine Guidance) of Shanghai ST Committee [124119A4400]
  3. National Natural Science Foundation of China [81870455]
  4. Shijitan Hospital Foundation for Young Scholars [2019-q09]

向作者/读者索取更多资源

Early diagnosis of Peutz-Jeghers syndrome (PJS) is crucial based on selective features in family history among family members and pathological information. The novel mutations also expand the STK11 variant spectrum.
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.

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