Peutz-Jeghers syndrome: a systematic review and recommendations for management

Beggs, Andrew D; Latchford, Andrew; Vasen, Hans F. A.; Möslein, Gabriela; Alonso, Ángel; Aretz, Stefan; Bertario, Lucio; Blanco, Ignacio; Bülow, Steffen; Burn, John; Capellà, Gabriel; Colás, C.; Friedl, Waltraut; Møller, Pål; Hes, Frederik J.; Järvinen, Heikki; Mecklin∥, Jukka–Pekka; Nagengast, Fokko M.; Parc, Yann; Phillips, R. K. S.; Hyer, Warren; Leòn, Maurizio Ponz de; Renkonen–Sinisalo, Laura; Sampson, Julian R.; Stormorken, Astrid; Tejpar, Sabine; Thomas, Huw; Wijnen, Juul T.; Clark, Sue; Hodgson, Shirley

doi:10.1136/gut.2009.198499

Cited by 665 publications

(612 citation statements)

References 98 publications

(96 reference statements)

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“…Importantly, the diagnosis of Peutz-Jeghers syndrome rests primarily on the histological identification of the polyps, and while sequencing for a germline mutation in STK11 may provide irrefutable evidence, such mutations are not demonstrable in 10% of affected individuals. 1 In fact, in the absence of a family history or mucocutaneous pigmentation, the diagnosis is dependent on documenting three diagnostic polyps.…”

Section: Discussionmentioning

confidence: 99%

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Peutz-Jeghers syndrome: a critical look at colonic Peutz-Jeghers polyps

Tse

Shinagare

et al. 2013

Modern Pathology

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Peutz-Jeghers syndrome is an autosomal dominant condition characterized by gastrointestinal hamartomatous polyps. The pathologic identification of a Peutz-Jeghers polyp is integral to the diagnosis of this syndrome that often remains undiagnosed until after these polyps are identified. Histologically, Peutz-Jeghers polyps are characterized by a distinctive arborization of smooth muscle within the lamina propria. Colonic Peutz-Jeghers polyps, however, may mimic mucosal prolapse polyps or virtually any colonic polyp that undergoes prolapse. In this paper, we explore the morphological features of colonic Peutz-Jeghers polyps and the diagnostic challenges associated with these polyps. Colonic polyps from patients with Peutz-Jeghers syndrome were identified (n ¼ 34). The control cohort, included mucosal prolapse polyps (n ¼ 5), hyperplastic polyps (n ¼ 10) and tubular adenomas with prolapse (n ¼ 9), ganglioneuromatous polyps (n ¼ 2) and juvenile polyps (n ¼ 14). Intramucosal smooth muscle fibers were identified in all classes of polyps. Twenty-three of the 34 colonic Peutz-Jeghers polyps were characterized by lobulated clusters of colonic crypts. On immunohistochemistry, desmin-positive smooth muscle fibers were seen surrounding these lobules. This lobular organization of the crypts was not identified in mucosal prolapse polyps and hyperplastic polyps or tubular adenomas with prolapse; only one of the 14 juvenile polyps showed this pattern of reactivity on a desmin stain. Our data suggests that the histologic hallmark of colonic Peutz-Jeghers polyps is the lobular organization of the crypts, and that an arborizing pattern of smooth muscle proliferation is neither sensitive nor a specific marker of colonic Peutz-Jeghers polyps. The presence of desmin-positive smooth muscle fibers surrounding the lobules is a helpful diagnostic feature of colonic Peutz-Jeghers polyps, and facilitates the distinction of these polyps from non-Peutz-Jeghers polyps with prolapse-like changes.

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Section: Discussionmentioning

confidence: 99%

“…1 The molecular basis for Peutz-Jeghers syndrome is a germline mutation of the serine threonine kinase/ liver kinase B1 gene (STK11, formerly known as LKB1) on human chromosome 19p13. Mutations in STK11 have been identified in up to 70% of familial Peutz-Jeghers cases.…”

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confidence: 99%

Peutz-Jeghers syndrome: a critical look at colonic Peutz-Jeghers polyps

Tse

Shinagare

et al. 2013

Modern Pathology

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“…A definitive surgical resection remains the recommended treatment in most of the cases of PJS which are associated with intussusceptions, because of the large proportions of structural causes and the relatively high incidence of malignancies [8]. In emergency surgical procedures, a combined endoscopic and surgical treatment is generally advocated, which includes IOE with endoscopic and/or surgical resection of polyps, with or without resection of short segments of intestine [9]. IOE is a combination of laparotomy with endoscopy, which was accepted as the ultimate diagnostic and/or therapeutic procedure for complete investigation of the small intestine.…”

Section: Discussionmentioning

confidence: 99%

Unusual Presentation of Intussusception of the Small Bowel with Peutz Jeghers Syndrome: Report of a Case

Shrivastava

Gupta²,

Shrivastava³

2013

JCDR

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“…Intraoperative endoscopy (IOE) is a combination of laparotomy and endoscopy, which was accepted as the ultimate diagnostic and/or therapeutic procedure that allows the surgeon to visualize the entire small bowel and to remove nearly all the polyps [31], but unfortunately, IOE was not available in our hospital.…”

Section: Discussionmentioning

confidence: 99%

Adult Intussusception in Patients with Peutz-Jeghers Syndrome: Case Series and Review of Literature

Mlees¹,

El-Bakary²,

El-Gendy³

et al. 2017

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Background: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by gastrointestinal hamartomatous polyps and mucocutaneous pigmentations in the mouth, facial skin, hands & feet. Small bowel obstruction, intussusception, bleeding, intestinal and extra-intestinal malignancies are the major complications of PJS. The aim of this study is to analyze the clinical characteristics, preoperative diagnosis, and surgical management of PJS associated-intussusception in adults. Patients and Methods: This study included 5 cases with intussusception in PJS patients presented to Surgical

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Peutz-Jeghers syndrome: a systematic review and recommendations for management

Cited by 665 publications

References 98 publications

Peutz-Jeghers syndrome: a critical look at colonic Peutz-Jeghers polyps

Peutz-Jeghers syndrome: a critical look at colonic Peutz-Jeghers polyps

Unusual Presentation of Intussusception of the Small Bowel with Peutz Jeghers Syndrome: Report of a Case

Adult Intussusception in Patients with Peutz-Jeghers Syndrome: Case Series and Review of Literature

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