Solitary Peutz-Jeghers Polyp in a Paediatric Patient

Abstract

Hamartomatous polyps of Peutz-Jeghers are mostly found in patients affected by Peutz-Jeghers syndrome (PJS), but they can be rarely encountered in the general population. It is unclear whether a solitary Peutz-Jeghers polyp (PJP) is an incomplete form of PJS or a separate entity. We report a case of solitary PJP in a paediatric patient in whom the other features of PJS were absent. The patient underwent laparotomy due to small bowel intussusception secondary to an ileac polyp. Histological examination showed the characteristic features of PJP, but the patient did not fulfill the WHO criteria for PJS diagnosis (negative family history for PJS and absence of mucocutaneous pigmentation); moreover analysis of the STK11/LKB1 gene did not reveal any genomic abnormality. The clinical and investigative findings in our case suggest that the solitary PJP can be considered a different clinical entity from PJS.

Peutz-Jeghers syndrome: Four cases in one family

“…In contrast, some researchers hypothesize that PJS polyps follow the hamartoma-carcinoma sequence, leading to a high risk of malignancy (3,7). Three of the family members studied here had hamartoma polyps that were confirmed histologically, but one only had inflammatory polyps.…”

“…Some researchers believe that PJS is an epiphenomenon preceding a cancer-prone state (7,8). In contrast, some researchers hypothesize that PJS polyps follow the hamartoma-carcinoma sequence, leading to a high risk of malignancy (3,7).…”

Hamartomatous Tumors in the Gastrointestinal Tract

“…The circumstances of their discovery are various; patients may be totally asymptomatic or present with vague abdominal pain, dyspepsia or digestive bleeding. In cases reported in the literature, these polyps did not seem to be associated with extra-digestive manifestations such as skin lesions or with a family history of PJS [1] . From a histological point of view, solitary PJ polyps are identical to those present in PJ polyposis syndrome but without other phenotypic characteristics.…”

“…From a histological point of view, solitary PJ polyps are identical to those present in PJ polyposis syndrome but without other phenotypic characteristics. Initial colonoscopy associated with upper endoscopy and exploration of the small intestine are usually recommended [1] . Polypectomy allows for histological analysis of the polyps but may also prevent the risk of degeneration exceptionally reported in this type of polyps.…”

“…Polypectomy allows for histological analysis of the polyps but may also prevent the risk of degeneration exceptionally reported in this type of polyps. Some authors recommend systematic search for the deleterious STK11/LKB1 gene mutation, even in the absence of clinical diagnostic criteria of PJS [1] . The long-term evolution is not well documented and there is no established recommendation for screening [2] .…”