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 | ||