Solitary Peutz-Jeghers Polyp in a Paediatric PatientRetrosi G.a · Nanni L.a · Vecchio F.M.b · Manzoni C.a · Canali R.a · Busato G.a · Pintus C.a
aDepartment of Paediatrics, Division of Paediatric Surgery, and bDepartment of Human Pathology, Università Cattolica del Sacro Cuore, Policlinico ‘A. Gemelli’, Rome, Italy Corresponding Author
Giuseppe Retrosi, MD
Department of Paediatrics, Division of Paediatric SurgeryUniversità Cattolica del Sacro Cuore, Policlinico ‘A. Gemelli’
Largo A. Gemelli 8, IT–00168 Rome (Italy)
Tel. +39 063 015 4032, Fax +39 063 051 162, E-Mail firstname.lastname@example.org
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.
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