Small bowel intussusception and concurrent sigmoid polyp with malignant transformation in Peutz–Jeghers syndrome

Algarni, Maidah; Raml, Enas; Trabulsi, Nora; Nassif, Mohammed

doi:10.1093/jscr/rjz004

Cited by 4 publications

(3 citation statements)

References 8 publications

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“…Color Doppler US showed central blood flow in the pedicles and rich blood flow signals radiating from the center to the edge of the nodules. Polyps of Peutz-Jeghers syndrome, commonly found in the small intestine are also described as hamartomas [38]. US images showed that the polyp was a lobulated nodule with an alternative distribution of hyperechoic and hypoechoic regions.…”

Section: Discussionmentioning

confidence: 99%

Ultrasound diagnosis of the small intestinal adenomyoma in children

Yan,

Liu,

Zhang

et al. 2023

Med Ultrason

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Aim: Adenomyoma is an exceptionally rare hamartoma in the small intestine. Few data have been reported on the features of this rare disease. The aim of this study was to describe the ultrasound (US) characteristics of small intestinal adenomyomas. Material and methods: This retrospective study analyzed the clinical features and US data of 15 pediatric patients diagnosed as small intestinal adenomyomas in the age range between 1 day to 12 years in our hospital during 2014–2021.Results: The clinical manifestations of all the small intestinal adenomyomas were abdominal pain, vomiting or/and hemafecia. The small intestinal adenomyoma usually acted as the lead point of secondary intussusception. They were identified in the ileum (n=11), jejunum (n=2), and Meckel’s diverticulum (n=2). The diagnostic accuracy (the concordance rate between US diagnosis and pathological diagnosis) of small intestinal adenomyoma was 73.3%. The small intestinal adenomyoma had approximately 1.0–3.0 cm, were typically located in the submucosal region, had the basal part wide and without a pedicle, and its boundaries were clear. The mass protruded into the intestinal cavity, and showed oval hypoechoic polycystic echo nodules, containing multiple small quasi-circular or irregular cysts of different sizes surrounded by solid hypoechoic mosaic areas. The color Doppler US showed in the solid hypoechoic areas of the mass abundant or sparse blood flow signals.Conclusions The US findings of small intestinal adenomyomas in children are characteristic, and US is valuable in the identification of intestinal adenomyomas in children.

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Section: Discussionmentioning

confidence: 99%

Ultrasound diagnosis of the small intestinal adenomyoma in children

Yan,

Liu,

Zhang

et al. 2023

Med Ultrason

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“…The hamartomas are located in the small intestine in >90% of patients, predominantly in the jejunum ( 3 ). Even in the early childhood, the hamartomas may induce complications including bleeding, abdominal pain, anemia, and intussusception ( 4 ). In this study, we took PJS pedigree as the research object, the first symptom of the proband was intussusception.…”

Section: Introductionmentioning

confidence: 99%

Analysis of a pedigree of Peutz-Jeghers syndrome and RET proto-oncogene mutation: one case report and literature review

Liang¹,

Guo²,

Yin³

et al. 2020

Transl Cancer Res TCR

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Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterised by gastrointestinal (GI) hamartomatous polyposis and mucocutaneous pigmentations. PJS is associated with an increased cancer risk, including GI and various extra-GI malignancies. In this study, we tracked this family for 8 years, and analyzed the clinical data of the PJS pedigree including two generations. In our research, the studied family members, including the proband, older daughter and younger daughter, all detected to have three heterozygous mutations in the RET gene that were inherited from the proband. The existed three mutant spots included exon 5 (GTG>ATG, Val292Met), exon 2 (CGC>CAC, Arg67His) and exon 18 (CGC>TGC, Arg982Cys) in RET. Our study provides an observation of the genetic heterogeneity of PJS. This pedigree investigation showed that it is critical to establish a long-term follow-up system for PJS patients and their families.

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“…12 No. 01 nasal passages, bronchial tree, lung, breast, kidney, ureter, pancreatic, gallbladder, uterine, ovarian and testicular tumors 5,6. Although the hamartomatous polyps are known with low malignant potential, individuals with this disease are at elevated risk of acquiring malignancies.3 Overall lifetime GI cancer risks of 55-85% and the reported lifetime risk for any cancer varied according to the literature between 37% and 93% at the age of 60-70 years.…”

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confidence: 99%

Peutz–Jeghers Syndrome: A Rare Genetic Cause of Intestinal Obstruction

2023

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Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant disorder. The mutation is found in the serine threonine kinase (STK11)/ liver kinase B1 (LKB1) gene on chromosome 19. It impacts 1 out of 50000–200000 individuals. Clinical menifestations include hyperpigmented lesion in oral cavity, lips, fingertips and perianal region. Abdominal pain, Anaemia, Gastrointestinal (GI) bleeding, GI polyp, Intestinal obstruction (mostly due to intussusception) and malignancy are closely interlinked with the disease. We present a 21 years old lady with characteristic hyperpigmented lesions in lips and fingertips with multiple polyps in the GI tract. The patient was presented in general emergency department with abdominal pain and vomiting. Detail workout revealed the diagnosis as PJS. We have plotted the diagnosis according to the WHO criteria due to the lacking of genetic analysis facility. Patients with PJS are at high risk of intestinal and extraintestinal malignancy. Early diagnosis and polypectomy along with surveillance for recurrence may prolong cancer free lifetime. CBMJ 2023 January: Vol. 12 No. 01 P: 115- 120

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Small bowel intussusception and concurrent sigmoid polyp with malignant transformation in Peutz–Jeghers syndrome

Cited by 4 publications

References 8 publications

Ultrasound diagnosis of the small intestinal adenomyoma in children

Ultrasound diagnosis of the small intestinal adenomyoma in children

Analysis of a pedigree of Peutz-Jeghers syndrome and RET proto-oncogene mutation: one case report and literature review

Peutz–Jeghers Syndrome: A Rare Genetic Cause of Intestinal Obstruction

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