Editing Peutz-Jeghers syndrome

Mucocutaneous melanotic pigmentation and GIT polyps

== '''Genetics''' ==

* Autosomal dominant, but about 50% are sporadic
* Mutation in ''STK11/LKB1'' tumour suppressor on 19p
* High degree of penetrance
* 90% lifetime risk of cancer
* Hamartomas - polyps differ histologically from juvenile polyps - overgrowth of smooth muscle (muscularis mucosa), extending into lamina propria

== '''Diagnostic criteria''' (WHO) - any of the following ==

* Three or more histologically-confirmed Peutz-Jeghers polyps
* Any numer of PJ polyps with a family history of PJS
* Characteristic, prominent, mucocutaneous pigmentation with a family history of PJS
* Any number of PJS polyps and characteristic prominent mucocutaneous pigmentation

== '''Risks''' ==

* CRC
** 39% lifetime risk
* Gastric polyps
** These have a 2-3% malignancy rate
** Seen in about 25% of patients
* Small bowel hamartomas (90%)
** Most commonly jejunum and ileum, but 50% also have rectal and colonic lesions
** Can present with intermittent intussusception
** Adenomatous transformation can occur but malignancy is rare
** If resection is required, do endoscopy at the same time to clear upstream and downstream polyps
* Pigmented lesions
** Classically 1-2mm brown or black spots in the circumoral region, buccal mucosa, forearms, palms, soles, digits and perianal region
* Extracolonic cancers in 50-90% of patients
** Small intestine 
** Stomach
** Pancreas - 100x general population
** Ovary
** Lung
** Uterus
** Breast - 45% by age of 70
** Testicular


== '''Presentation''' ==

* Abdo pain
* Altered bowel habit
* Weight loss
* Intussusception
* Anaemia
* Haematochezia
* Melanotic stools
* SBO

== '''Screening''' ==

* Small bowel enteroscopy at 10yo - if normal, repeat at 18yo, then at 2-3 year intervals
** Polyps >1cm removed endoscopically
* Colonoscopy and gastroscopy starting at 18yo and repeated every 2-3 years
** Remove colon polyps >1cm
* Pancreatic screening EUS or MRCP and CA19-9 every 1-2 years starting at age 25-30
* Annual testicular examination starting at age 10
* Annual pelvic examination and Pap smear starting at age 18
* Breast physical exams every 6 months and yearly mammogram and MRI starting at age 25

== '''Surgery''' ==

* Reserved for symptomatic disease (bleeding, obstruction) or cancer

[[Category:Oncology]]