Cancer within the family tree: risks, diagnosis and treatment of juvenile polyposis syndrome

Kozacek, Kyler; Santos, Ryan; Abdo, Michael; Manibusan, Pedro

doi:10.1136/bcr-2020-236845

Cited by 1 publication

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References 3 publications

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“…However, a juvenile polyposis syndrome diagnosis requires the presence of either juvenile polyps or family history of JPS. [9] Furthermore, JPS can be diagnosed only in the absence of other hamartomatous polyposis syndromes, including PJS what excludes our patient as a JPS patient. [10] Polyps of juvenile type are mostly detected in childhood but are very rare in adulthood.…”

Section: Discussionmentioning

confidence: 88%

A rare case of a juvenile polyp of patient with Peutz-Jeghers syndrome, complicated with intussusception of the small intestine

Rycyk¹,

Kasztelan-Szczerbińska²,

Cichoż‐Lach³

2022

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We report a rare case of Peutz-Jeghers syndrome (PJS) in a 35-year-old female. The patient was diagnosed with PJS when she was 11 years old. She has remained under observation since then. We strongly believe that PJS is a very rare diagnosis. However, it can have serious complications such as the intussusception we observed in our patient. Her condition (recurrent abdominal pain and vomiting) in childhood required further diagnostic procedures. Although the diagnosis of PJS was made, among many resected polyps, one of them appeared to be a juvenile polyp. The diagnosis was confirmed in the histopathology report, which was incredibly unique. Genetic testing revealed LKB1/STK11 gene mutation. Clinicians should be aware of the malignant potential in the course of PJS. Hence, these patients require tailor-made management, long-term follow-up, and our particular attention.

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Section: Discussionmentioning

confidence: 88%