Skip to main page content
U.S. flag

An official website of the United States government

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Jun 8;16(1):261.
doi: 10.1186/s13023-021-01900-7.

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

Yu-Liang Jiang #  1 , Xiao-Dong Xu #  2 , Bai-Rong Li  3 , En-Da Yu  2 , Zi-Ye Zhao  4 , Hong Liu  1
Affiliations

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

Yu-Liang Jiang et al. Orphanet J Rare Dis. .

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 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.

Keywords: Enteroscopy; Hamartoma; Peutz–Jeghers syndrome; Polyposis; STK11 gene.

PubMed Disclaimer

Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Pedigrees and genetic information on the PJS families. a The genograms (Squares = males, and circles = females; left half black symbols = mucocutaneous pigmentation, quart-pink = cancer, and quart-red = LGIB; E = examination and ±  = positive/negative; an oblique line indicates a deceased individual; the index patient is indicated by an arrow.) b The structure of the STK11 gene and the location of the 3 mutations are showed. For c.536C > A, c PolyPhen-2 score for this mutation is 1.000, indicating that it is probably damaging. AND (d) the local structures around the mutation site of the wild-type and mutant STK11 proteins generated by Swiss-model online software show obvious differences. e Sanger sequencing revealed 3 heterozygous mutations. LGIB lower gastrointestinal bleeding
See this image and copyright information in PMC

Similar articles

See all similar articles

References

    1. Giardiello FM, Brensinger JD, Tersmette AC, et al. Very high risk of cancer in familial Peutz–Jeghers syndrome. Gastroenterology. 2000;119:1447–1453. doi: 10.1053/gast.2000.20228. - DOI - PubMed
    1. Huang ZH, Song Z, Zhang P, et al. Clinical features, endoscopic polypectomy and STK11 gene mutation in a nine-month-old Peutz–Jeghers syndrome Chinese infant. World J Gastroenterol. 2016;22:3261–3267. doi: 10.3748/wjg.v22.i11.3261. - DOI - PMC - PubMed
    1. Massa G, Roggen N, Renard M, et al. Germline mutation in the STK11 gene in a girl with an ovarian Sertoli cell tumour. Eur J Pediatr. 2007;166:1083–1085. doi: 10.1007/s00431-006-0352-4. - DOI - PubMed
    1. Tsai HL, Lin CH, Cheng YL, et al. Rectal carcinoma in a young female patient with Peutz–Jeghers syndrome: a case report. Med Princ Pract. 2014;23:89–91. doi: 10.1159/000351885. - DOI - PMC - PubMed
    1. Zhao ZY, Jiang YL, Li BR, et al. A 23-nucleotide deletion in STK11 gene causes Peutz–Jeghers syndrome and malignancy in a Chinese patient without a positive family history. Dig Dis Sci. 2017;62:3014–3020. doi: 10.1007/s10620-017-4741-5. - DOI - PubMed

Publication types

LinkOut - more resources