Follow-up on children with PJS

If a child has been diagnosed with PJS by some combination of family history, spots and genetic testing, but doesn't have polyps, what screening tests and follow-up surveillance tests are recommended by PJS experts?

There are several different expert opinions on this, but all suggest that annual full gastrointestinal workups (including scopes and imaging) are unnecessary. The  range is from repeat the tests at 2-3 year intervals to wait until age 18 to test again.


Dr. Warren Hyer from the UK  wrote in 2009:
"For children who are asymptomatic with small polyps (< 1.0cm), the parents should be counselled about the risk of intussusception but present consensus would be not to remove these polyps but reassess in 2-3 years by VCE (video capsule endoscopy) or endoscopy." (1)

In 2010, a larger group (2) examined the issues in much greater depth and had this to say about baseline screening and subsequent followup:

“Question: What is the role of surveillance examination of the gastrointestinal tract?
(I’m skipping the discussion)
“Conclusion: A baseline colonoscopy and upper GI endoscopy (OGD) is indicated at age 8 years. In those whom significant polyps are detected these should be repeated every 3 years. In those whom there are no significant polyps at baseline endoscopy, routine surveillance is repeated at age 18, or sooner should symptoms arise, and then three yearly. We recommend that after the age of 50 years  the frequency be increased to every 1-2 years due to the rapid increase of cancer risk at this age.” (2)

“Question: How and when should small bowel surveillance be performed in PJS?
(I’m skipping the discussion)
“Conclusion: Small bowel screening using video capsule endoscopy (VCE) should be performed every 3 years if polyps are found at the initial examination, from age 8 years, or earlier, if the patient is symptomatic. If few or no polyps are found at the intial examination, screening should commence again at age 18. Magnetic resonance enterography (MRE) and barium follow-through (BaFT) are reasonable alternatives in adult patients but BaFT is not favoured in children due to radiation exposure.” (2)

And, interestingly,
“Question: Is endoscopic polypectomy of benefit?”
(I’m skipping the discussion)
“Conclusion: Endoscopic polypectomy reduces polyp-related complications and risk of future operative polypectomy. If a Laparotomy is performed in a patient with PJS, either as an emergency for obstruction/intussusception, or electively for the removal of large or symptomatic polyps which can not be removed endoscopically, intraoperative enteroscopy and ‘ clean sweep’ polypectomy should be undertaken.” (2)

In 2001 experts from Johns Hopkins suggested an annual screening exam from birth to age 24 in offspring of a PJS parent,  “Children and adults should have a history and physical exam every year with routine blood tests. The doctor will look for melanin spots, precocious puberty, and testicular tumors.” (3)

If PJS is confirmed in a patient, then surveillance is recommended. “For females from age 12 on: History and physical exam (precocious puberty) every year with routine blood tests; Upper endoscopy, colonoscopy and small bowel series every 2 years.

“For males from age 12 on: History and physical exam  (precocious puberty and testicular tumors) every year with routine blood tests; Upper endoscopy, colonoscopy and small bowel series every 2 years.” (3)

It looks like waiting 2-3 years for next full set of  GI exams (scopes plus imaging) is the more conservative route, while waiting until symptoms develop or age 18 is the riskier, but still well considered, route.


(1) Implications of Peutz-Jeghers Syndrome in Children and Adolescents
Warren Hyer, MB, ChB, FRCPCH
Consultant Paediatric Gastroenterologist
St Mark’s Hospital UK
2009
http://www.ncbi.nlm.nih.gov/books/NBK26374/

(2) Gut 2010;59:975-986 doi:10.1136/gut.2009.198499
Guidelines
Peutz–Jeghers syndrome: a systematic review and recommendations for management
A D Beggs1, A R Latchford2, H F A Vasen3, G Moslein4, A Alonso5, S Aretz6, L Bertario7, I Blanco8, S Bülow9, J Burn10, G Capella11, C Colas12, W Friedl6, P Møller13, F J Hes14, H Järvinen15, J-P Mecklin16, F M Nagengast17, Y Parc18, R K S Phillips19, W Hyer19, M Ponz de Leon20, L Renkonen-Sinisalo15, J R Sampson21, A Stormorken22, S Tejpar23, H J W Thomas24, J T Wijnen14, S K Clark19, S V Hodgson1

+ Author Affiliations
1Department of Clinical Genetics, St George's Hospital, London, UK
2Department of Gastroenterology, Derriford Hospital, University of Plymouth, Devon, UK
3Department of Gastroenterology and Hepatology, Leiden University Medical Centre, Leiden, The Netherlands
4Department of Surgery, St Josefs Hospital Bochum-Linden (Helios), Bochum, Germany
5Department of Medical Genetics, Hospital Virgen del Camino, Pamplona, Spain
6Institute of Human Genetics, University of Bonn, Germany
7Department of Surgery, Hospital Tumori, Milan, Italy
8Genetic Counselling Unit, Prevention and Cancer Control Department, Catalan Institute of Oncology, Barcelona, Spain
9Danish Polyposis Registry, Department of Surgery, Hvidovre University Hospital, Hvidovre, Denmark
10Institute of Human Genetics, Newcastle-upon-Tyne, UK
11Institute Catala D'Oncologia, Barcelona, Spain
12Laboratoire d'Oncogenetique, Groupe Hospitalier Pitié-Salpêtre, Paris
13Section of Inherited Cancer, Department of Medical Genetics, Rikshospitalet-Radium Hospitalet Medical Centre, Oslo, Norway
14Departments of Human & Clinical Genetics, Leiden University Medical Centre, The Netherlands
15Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland
16Department of Surgery, Jyvaskyla Central Hospital, Jyvaskyla, Finland
17Department of Gastroenterology and Hepatology, Radboud University Medical Centre, Nijmegen, The Netherlands
18Department of Digestive Surgery, Hospital Saint-Antoine, University Pierre et Marie, Paris, France
19The Polyposis Registry, St Mark's Hospital, Harrow, Middlesex, UK
20Department of Internal Medicine, University Hospital, Modena, Italy
21Institute of Medical Genetics, School of Medicine, Cardiff University, UK
22Department of Medical Genetics, Ullevål University Hospital, Oslo, Norway
23Digestive Oncology Unit, Department of Internal Medicine, University Hospital Gasthuisberg, Leuven, Belgium
24CRUK, Family Cancer Group, St Mark's Hospital, Harrow, Middlesex, UK
Correspondence to
Professor Shirley Hodgson, Department of Clinical Genetics, St Georges, University of London, Cranmer Terrace, London SW17 ORE, UK; shodgson@sgul.ac.uk

(3) The Johns Hopkins
Guide for Patients and Families
Peutz-Jeghers Syndrome
2001
http://www.macgn.org/PDF/pjs.pdf