Peutz-Jeghers syndrome: Four cases in one family

Wang, Ran; Qi, Xingshun; Liu, Xu; Guo, Xiaozhong

doi:10.5582/irdr.2015.01036

Cited by 6 publications

(3 citation statements)

References 9 publications

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“…PJS is an autosomal dominant disorder with a prevalence of approximately 1 in 200000[ 15 , 16 ]. Although PJS is a rare disease, the large population of China and the prolonged course of PJS lead to the accumulation of a great number of PJS patients in Chinese society.…”

Section: Discussionmentioning

confidence: 99%

Peutz-Jeghers syndrome without STK11 mutation may correlate with less severe clinical manifestations in Chinese patients

Jiang¹,

Chen²,

Xu³

et al. 2023

World J Gastroenterol

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BACKGROUND Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic disease with skin mucosal pigment spots and gastrointestinal (GI) multiple hamartoma polyps as clinical characteristics. At present, it is considered that the germline mutation of STK11 gene is the genetic cause of PJS. However, not all PJS patients can be detected STK11 germline mutations. The specific clinical characteristics of these PJS patients without STK11 mutation is an interesting clinical question. Or, like wild type GI stromal tumor, whether these PJS without STK11 mutation are also called PJS is worth discussing. Therefore, we designed the study to understand the clinical characteristics of these PJS patients without STK11 mutation. AIM To investigates whether PJS patients with known STK11 mutations have a more severe spectrum of clinical phenotypes compared to those without. METHODS A total of 92 patients with PJS admitted to the Air Force Medical Center from 2010 to 2022 were randomly selected for study. Genomic DNA samples were extracted from peripheral blood samples, and pathogenic germline mutations of STK11 were detected by high-throughput next-generation gene sequencing. Clinical-pathologic manifestations of patients with and without STK11/LKB1 mutations were compared. RESULTS STK11 germline mutations were observed in 73 patients with PJS. Among 19 patients with no detectable STK11 mutations, six had no pathogenic germline mutations of other genes, while 13 had other genetic mutations. Compared with PJS patients with STK11 mutations, those without tended to be older at the age of initial treatment, age of first intussusception and age of initial surgery. They also had a lower number of total hospitalizations relating to intussusception or intestinal obstruction, and a lower load of small intestine polyps. CONCLUSION PJS patients without STK11 mutations might have less severe clinical-pathologic manifestations than those with.

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Section: Discussionmentioning

confidence: 99%

Peutz-Jeghers syndrome without STK11 mutation may correlate with less severe clinical manifestations in Chinese patients

Jiang¹,

Chen²,

Xu³

et al. 2023

World J Gastroenterol

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“… 2 Our previous case report demonstrated a family of four patients diagnosed as having PJS, of whom three had hamartomatous polyps and one had inflammatory polyps. 3 Notably, one of them died of lung adenocarcinoma. Similarly, our patient’s mother presented with black pigments on fingers and lips, and then died of cholangiocarcinoma.…”

Section: Discussionmentioning

confidence: 99%

A Large Intracolonic Mass in a Patient with Peutz-Jeghers Syndrome

Wang

Shao

et al. 2017

Middle East J Dig Dis

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Peutz-Jeghers syndrome (PJS) is characterized by scattered black pigmentations on fingers and lips and multiple polyps in the gastrointestinal tract. Patients with PJS often have severe complications secondary to multiple large polyps. Herein, we present a young woman complicated with a large polyp in her colon without any clinical symptoms. We also emphasized the necessity of early diagnosis and treatment of multiple polyps in such patients.

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“…Peutz-Jeghers syndrome (PJS) was originally described by J.L.A Peutz in 1921 as a co-occurrence of gastrointestinal polyposis and pigmentations in a single family. Then later, in 1949, H. Jeghers published a summary of the signs and symptoms of the disorder, based on the clinical picture of unrelated patients [1].…”

Section: Peutz-jeghers Syndromementioning

confidence: 99%

Selected syndromes of hamartomatous polyposis of the gastrointestinal tract – clinical and genetic aspects

Pytrus

Pesz

Kofla-Dłubacz

et al. 2022

Nowotwory. Journal of Oncology

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Hamartomatous polyp syndromes are a clinically and genetically heterogenous group of rare disorders that fall into the category of inherited predisposition to cancer. They include Peutz-Jeghers syndrome, Cowden syndrome, juvenile polyposis and mixed hereditary polyposis. Although the shared common characteristic is the presence of multiple polyps in the gastrointestinal tract, they differ by the number, age of onset and histopathological features of the polyps, clinical picture and presentation, as well as the approach to genetic testing. With the recognition of the importance of providing high quality medical care, that is equal diagnostic and therapeutic opportunities to patients with rare disorders (Uchwała nr 110 Rady Ministrów z dnia 24 sierpnia 2021 r. w sprawie przyjęcia dokumentu "Plan dla chorób rzadkich"), the authors would like to present the essential (fundamental) aspects of the above-mentioned syndromes.

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Peutz-Jeghers syndrome: Four cases in one family

Cited by 6 publications

References 9 publications

Peutz-Jeghers syndrome without STK11 mutation may correlate with less severe clinical manifestations in Chinese patients

Peutz-Jeghers syndrome without STK11 mutation may correlate with less severe clinical manifestations in Chinese patients

A Large Intracolonic Mass in a Patient with Peutz-Jeghers Syndrome

Selected syndromes of hamartomatous polyposis of the gastrointestinal tract – clinical and genetic aspects

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