Abstract
ObjectiveTo 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 interventionPJS 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).ConclusionEarly 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.
Highlights
Peutz–Jeghers syndrome (PJS; OMIM 175,200), an autosomal dominant disorder, is caused by germline mutations in the serine/threonine kinase 11 (STK11) gene
Two large polyps whose biggest diameter was 4 cm were pathologically dissected and diagnosed as “hyperplastic polyp”. Another 2 years later, the patient went to a tertiary teaching hospital for endoscopy, and the correct pathological diagnosis of hamartoma and PJS was made
PJS was reported by Dr Connor first in 1895 [9], and Dr Jeghers identified the coexistence of mucocutaneous pigmentation (MP) and GI polyposis as a distinct clinical entity [10]
Summary
Peutz–Jeghers syndrome (PJS; OMIM 175,200), an autosomal dominant disorder, is caused by germline mutations in the serine/threonine kinase 11 (STK11) gene. His father had similar MP since birth, and the patient’s elder sister died of serious polyposis when she was 15 years old Discovering this information, the doctor suspected PJS and referred him for a colonoscopy, during which several colon polyps were discovered and resected. Case 2 The 2nd proband is a 50-year-old female with oral MP from North China, who is adopted and her biological parents’ information is unavailable She went for a doctor in a local hospital due to weight loss, anemia and recurrent hematochezia, and underwent gastroscopy at the age of 40, during which large number of polyps were detected. Two large polyps whose biggest diameter was 4 cm were pathologically dissected and diagnosed as “hyperplastic polyp” Another 2 years later, the patient went to a tertiary teaching hospital for endoscopy, and the correct pathological diagnosis of hamartoma and PJS was made.
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