Clinical Indication ID & Name
Peutz Jeghers Syndrome
Test Group
Inherited cancer
Specialties
Test code
R212.1
Test name
N/A
Target genes
STK11
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Living affected individual (proband) where the individual +/- family history meets one of the criteria.
1. ≥2 PJS-type hamartomatous polyps, OR
2. ≥1 PJS-type hamartomatous polyp and characteristic mucocutaneous pigmentation, OR
3. Characteristic mucocutaneous pigmentation age <10, OR
4. Sex cord tumours with annular tubules (SCAT) at any age
5. Adenoma malignum of the cervix at any age
6. ≥1 PJS-type hamartomatous polyp, AND ≥1 first / second degree relative with:
a. ≥1 PJS-like feature, OR
b. ≥2 PJS-related cancers (the two cancers can be in the same or different relatives), OR
7. Characteristic mucocutaneous pigmentation, AND ≥1 first / second degree relative with:
a≥1 PJS-like feature, OR
b. ≥2 PJS-related cancers (the two cancers can be in the same or different relatives)
Deceased affected individual (proband) where all the following are met;
(i) the individual +/- family history meets one of the above criteria, AND
(ii) a previously stored constitutional blood/DNA or tissue sample (tumour or normal) is available,
AND
(iii) no living affected individual is available for genetic testing, AND
(iv) after discussion at specialist cancer genetics MDT
PJS-like features: characteristic mucocutaneous pigmentation, PJS-type hamartomatous polyps
PJS-related cancers: epithelial colorectal, gastric, pancreatic, breast, and ovarian cancers, sex cord tumors
with annular tubules (SCTAT), adenoma malignum of the cervix, and Sertoli cell tumors (LCST) of the testes
NOTE: The majority of polyps should be histologically confirmed
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist
MDT with a cancer geneticist present
Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a
genetic or genomic diagnosis will guide management for the proband or family.
Test code
R212.2
Test name
N/A
Target genes
STK11
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Living affected individual (proband) where the individual +/- family history meets one of the criteria.
1. ≥2 PJS-type hamartomatous polyps, OR
2. ≥1 PJS-type hamartomatous polyp and characteristic mucocutaneous pigmentation, OR
3. Characteristic mucocutaneous pigmentation age <10, OR
4. Sex cord tumours with annular tubules (SCAT) at any age
5. Adenoma malignum of the cervix at any age
6. ≥1 PJS-type hamartomatous polyp, AND ≥1 first / second degree relative with:
a. ≥1 PJS-like feature, OR
b. ≥2 PJS-related cancers (the two cancers can be in the same or different relatives), OR
7. Characteristic mucocutaneous pigmentation, AND ≥1 first / second degree relative with:
a≥1 PJS-like feature, OR
b. ≥2 PJS-related cancers (the two cancers can be in the same or different relatives)
Deceased affected individual (proband) where all the following are met;
(i) the individual +/- family history meets one of the above criteria, AND
(ii) a previously stored constitutional blood/DNA or tissue sample (tumour or normal) is available,
AND
(iii) no living affected individual is available for genetic testing, AND
(iv) after discussion at specialist cancer genetics MDT
PJS-like features: characteristic mucocutaneous pigmentation, PJS-type hamartomatous polyps
PJS-related cancers: epithelial colorectal, gastric, pancreatic, breast, and ovarian cancers, sex cord tumors
with annular tubules (SCTAT), adenoma malignum of the cervix, and Sertoli cell tumors (LCST) of the testes
NOTE: The majority of polyps should be histologically confirmed
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist
MDT with a cancer geneticist present
Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a
genetic or genomic diagnosis will guide management for the proband or family.
Commissioning group
Specialised
Overlapping idications
n/a
Address for samples/request forms
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection Samples may be rejected for the following reasons: 1. Samples and request form do not show at least three identical patient identifiers 2. The sample is in the incorrect collection media 3. The request form is not sufficiently completed 4. The sample is not of sufficient volume 5. The sample is too old