Solitary Ileal Peutz-Jeghers Polyp: Sporadic Entity or Syndromic Component?

Abstract

Sporadic Peutz Jeghers's polyps (SPJP) are hamartomatous polyps without any manifestations of classic Peutz Jegher's Syndrome (PJS). Histologically they have an arborizing pattern of smooth muscle fibers with a core of smooth muscle covered by mucosal tissue of near normal appearance which is also seen in PJS. In the following case we have endoscopically removed a large SPJP during a double balloon enteroscopy. A 75-year-old man presented with melena and a hemoglobin of 6.0 g/dl. His physical examination and family history were unremarkable. Esophago-gastro-duodenoscopy and a colonoscopy were normal and subsequent capsule endoscopy showed a large polyp in the proximal ileum. A Double Balloon enteroscopy revealed a 3 cm pedunculated polyp in proximal ileum [Figure 1]. A tattoo was placed adjacent to the polyp and an endoclip was placed at the base of the stalk. Hot snare polypectomy was performed and another endoclip was placed to prevent post-polypectomy hemorrhaging and the resected polyp was retrieved using the snare and sent for histopathological examination; which showed a smooth muscle bundle in an arborizing fashion extending into the polyp fronds and normal small intestinal epithelium, consistent with a Peutz-Jeghers polyp without any dysplasia or malignancy [Figure 2; Video 1].Figure 1Figure 2We described a case of SPJP diagnosed by history, physical examination and histopathology. PJS is an autosomal dominant disorder characterized by multiple hamartomatous polyps throughout the GI tract and changes in mucocutaneous pigmentation. The complications of PJS include intussusception, bowel obstruction, GI bleeding, and increased risk of malignancy especially at non-polyp sites. The lifetime risk for colon, pancreas, stomach, small bowel, breast, ovarian and testicular cancer is 18 times greater in these patients. SPJP is a rare finding that may be an incomplete form or variant of PJS. A retrospective study done with a large pathology database demonstrated a higher risk of malignancy associated with SPJP. Out of the 102 selected polyps, 8 were SPJPs; 3 of which developed malignancies (Pancreatic cancer n=2; Bilateral ovarian cystic mass and glomus tympanicum tumour n=1). Thus specific high risk screening may be warranted in these patients. In the case described above, an EUS was done and no evidence of neoplastic lesion was found in the pancreas.