Table 1

Results of LOH and immunohistochemical analysis in p16-Leiden mutation carriers

FamilySubject no.Anatomical siteAge at diagnosis (years)p16-IHCInternal controlTumour (%)LOH
EMC, Erasmus MC; LUMC, Leiden University Medical Center; NFDHT, Netherlands Foundation for the Detection of Hereditary Tumours; OSCC, oral squamous cell carcinoma; SCC, squamous cell carcinoma.
−, No staining of tumour cells or internal control cells; NP, no internal control cells identified; R, retention of the wild type allele; A, ambiguous; NA, not analysed.
*BRCA1 and BRCA2 tested negative; †few positive tumour nuclei; ‡microsatellite instability analysis: immunohistochemistry for MLH1, MSH2, and MSH6 positive.
Tumours originating in the lung and oral cavity
    EMC1376936OSCC (Tongue)65NA
48OSCC (1X)49+>50Yes
51Lung (adenocarcinoma)38+>50Yes
    NFDHT41Lung (SCC)61NAA
    NFDHT42Lung (SCC)48NPNA
    NFDHT5Lung (carcinoid)46+70–80R
    NFDHT6Lung (SCC)56+NA
Tumours originating in the breast
    EMC1376950Breast*46+>30R
    LUMC152Breast*41+50–60Yes
    NFDHT1Breast42+30R
    NFDHT2Breast47+†30R
    NFDHT3Breast46+†NA
Tumours originating in the digestive tract
    EMC1376921Colon‡75+<30R
36Sigmoid52+>30R