Peutz-jeghers syndrome

Douglas Riegert-Johnson

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by melanotic macules, intestinal polyps, and an increased cancer risk. It is caused by mutations in the serine/threonine kinase 11 gene (LKB1, STK11). About 1 in 100,000 individuals have PJS. If the diagnosis is unclear, all pathological material should be re-evaluated by an expert gastrointestinal pathologist. The PJS discussion email list-serve (patient managed) and the peutz-jeghers.com, geneclinics.org websites are useful resources for patients. Cancer surveillance is accepted as a method to increase survival for PJS patients, thus all PJS patients should be prescribed an individualized surveillance plan based on personal and family history as well as available health care resources while taking into consideration the preferences of the patient. Several recent incremental improvements in PJS care have been made including the use of magnetic resonance enterography (MRE) and double balloon endoscopy (DBE). MRE combines cancer and small intestinal polyp surveillance, which previously had required two or more separate tests. How and when to perform pancreatic cancer surveillance continues to be an unclear area in the management of PJS patients. Endoscopic ultrasound (EUS) is probably the most sensitive investigation for pancreatic cancer detection at an early stage when cure may be possible.

Original languageEnglish (US)
Title of host publicationIntestinal Polyposis Syndromes: Diagnosis and Management
PublisherSpringer International Publishing
Pages117-164
Number of pages48
ISBN (Electronic)9783319281032
ISBN (Print)9783319281018
DOIs
StatePublished - Jan 1 2016

Fingerprint

Peutz-Jeghers Syndrome
Intestinal Polyps
Pancreatic Neoplasms
Magnetic Resonance Spectroscopy
Neoplasms
Patient Preference
Health Resources
Protein-Serine-Threonine Kinases
Endoscopy
Delivery of Health Care
Mutation
Survival

Keywords

  • Hamartoma
  • LKB1
  • Melanotic macule
  • Peutz-Jeghers syndrome
  • STK11

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Riegert-Johnson, D. (2016). Peutz-jeghers syndrome. In Intestinal Polyposis Syndromes: Diagnosis and Management (pp. 117-164). Springer International Publishing. https://doi.org/10.1007/978-3-319-28103-2_9

Peutz-jeghers syndrome. / Riegert-Johnson, Douglas.

Intestinal Polyposis Syndromes: Diagnosis and Management. Springer International Publishing, 2016. p. 117-164.

Research output: Chapter in Book/Report/Conference proceedingChapter

Riegert-Johnson, D 2016, Peutz-jeghers syndrome. in Intestinal Polyposis Syndromes: Diagnosis and Management. Springer International Publishing, pp. 117-164. https://doi.org/10.1007/978-3-319-28103-2_9
Riegert-Johnson D. Peutz-jeghers syndrome. In Intestinal Polyposis Syndromes: Diagnosis and Management. Springer International Publishing. 2016. p. 117-164 https://doi.org/10.1007/978-3-319-28103-2_9
Riegert-Johnson, Douglas. / Peutz-jeghers syndrome. Intestinal Polyposis Syndromes: Diagnosis and Management. Springer International Publishing, 2016. pp. 117-164
@inbook{daafff8fdfd3434891330d7087c3e232,
title = "Peutz-jeghers syndrome",
abstract = "Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by melanotic macules, intestinal polyps, and an increased cancer risk. It is caused by mutations in the serine/threonine kinase 11 gene (LKB1, STK11). About 1 in 100,000 individuals have PJS. If the diagnosis is unclear, all pathological material should be re-evaluated by an expert gastrointestinal pathologist. The PJS discussion email list-serve (patient managed) and the peutz-jeghers.com, geneclinics.org websites are useful resources for patients. Cancer surveillance is accepted as a method to increase survival for PJS patients, thus all PJS patients should be prescribed an individualized surveillance plan based on personal and family history as well as available health care resources while taking into consideration the preferences of the patient. Several recent incremental improvements in PJS care have been made including the use of magnetic resonance enterography (MRE) and double balloon endoscopy (DBE). MRE combines cancer and small intestinal polyp surveillance, which previously had required two or more separate tests. How and when to perform pancreatic cancer surveillance continues to be an unclear area in the management of PJS patients. Endoscopic ultrasound (EUS) is probably the most sensitive investigation for pancreatic cancer detection at an early stage when cure may be possible.",
keywords = "Hamartoma, LKB1, Melanotic macule, Peutz-Jeghers syndrome, STK11",
author = "Douglas Riegert-Johnson",
year = "2016",
month = "1",
day = "1",
doi = "10.1007/978-3-319-28103-2_9",
language = "English (US)",
isbn = "9783319281018",
pages = "117--164",
booktitle = "Intestinal Polyposis Syndromes: Diagnosis and Management",
publisher = "Springer International Publishing",

}

TY - CHAP

T1 - Peutz-jeghers syndrome

AU - Riegert-Johnson, Douglas

PY - 2016/1/1

Y1 - 2016/1/1

N2 - Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by melanotic macules, intestinal polyps, and an increased cancer risk. It is caused by mutations in the serine/threonine kinase 11 gene (LKB1, STK11). About 1 in 100,000 individuals have PJS. If the diagnosis is unclear, all pathological material should be re-evaluated by an expert gastrointestinal pathologist. The PJS discussion email list-serve (patient managed) and the peutz-jeghers.com, geneclinics.org websites are useful resources for patients. Cancer surveillance is accepted as a method to increase survival for PJS patients, thus all PJS patients should be prescribed an individualized surveillance plan based on personal and family history as well as available health care resources while taking into consideration the preferences of the patient. Several recent incremental improvements in PJS care have been made including the use of magnetic resonance enterography (MRE) and double balloon endoscopy (DBE). MRE combines cancer and small intestinal polyp surveillance, which previously had required two or more separate tests. How and when to perform pancreatic cancer surveillance continues to be an unclear area in the management of PJS patients. Endoscopic ultrasound (EUS) is probably the most sensitive investigation for pancreatic cancer detection at an early stage when cure may be possible.

AB - Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by melanotic macules, intestinal polyps, and an increased cancer risk. It is caused by mutations in the serine/threonine kinase 11 gene (LKB1, STK11). About 1 in 100,000 individuals have PJS. If the diagnosis is unclear, all pathological material should be re-evaluated by an expert gastrointestinal pathologist. The PJS discussion email list-serve (patient managed) and the peutz-jeghers.com, geneclinics.org websites are useful resources for patients. Cancer surveillance is accepted as a method to increase survival for PJS patients, thus all PJS patients should be prescribed an individualized surveillance plan based on personal and family history as well as available health care resources while taking into consideration the preferences of the patient. Several recent incremental improvements in PJS care have been made including the use of magnetic resonance enterography (MRE) and double balloon endoscopy (DBE). MRE combines cancer and small intestinal polyp surveillance, which previously had required two or more separate tests. How and when to perform pancreatic cancer surveillance continues to be an unclear area in the management of PJS patients. Endoscopic ultrasound (EUS) is probably the most sensitive investigation for pancreatic cancer detection at an early stage when cure may be possible.

KW - Hamartoma

KW - LKB1

KW - Melanotic macule

KW - Peutz-Jeghers syndrome

KW - STK11

UR - http://www.scopus.com/inward/record.url?scp=84978230970&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84978230970&partnerID=8YFLogxK

U2 - 10.1007/978-3-319-28103-2_9

DO - 10.1007/978-3-319-28103-2_9

M3 - Chapter

SN - 9783319281018

SP - 117

EP - 164

BT - Intestinal Polyposis Syndromes: Diagnosis and Management

PB - Springer International Publishing

ER -