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

ABSTRACT:

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 impo

SUBMITTER: Jiang YL 

PROVIDER: S-EPMC8186215 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature