Results of LOH and immunohistochemical analysis in p16-Leiden mutation carriers
Family | Subject no. | Anatomical site | Age at diagnosis (years) | p16-IHC | Internal control | Tumour (%) | 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 | |||||||
EMC13769 | 36 | OSCC (Tongue) | 65 | – | – | NA | |
48 | OSCC (1X) | 49 | − | + | >50 | Yes | |
51 | Lung (adenocarcinoma) | 38 | − | + | >50 | Yes | |
NFDHT4 | 1 | Lung (SCC) | 61 | NA | A | ||
NFDHT4 | 2 | Lung (SCC) | 48 | − | NP | NA | |
NFDHT5 | Lung (carcinoid) | 46 | − | + | 70–80 | R | |
NFDHT6 | Lung (SCC) | 56 | − | + | NA | ||
Tumours originating in the breast | |||||||
EMC13769 | 50 | Breast* | 46 | + | >30 | R | |
LUMC152 | Breast* | 41 | − | + | 50–60 | Yes | |
NFDHT1 | Breast | 42 | + | 30 | R | ||
NFDHT2 | Breast | 47 | +† | 30 | R | ||
NFDHT3 | Breast | 46 | +† | NA | |||
Tumours originating in the digestive tract | |||||||
EMC13769 | 21 | Colon‡ | 75 | − | + | <30 | R |
36 | Sigmoid | 52 | + | >30 | R |