Table 1. Tumours included in the MED12 exon 2 mutation screening.
| Tumour type | N | Sample type | Samples from |
|---|---|---|---|
| Mesenchymal | |||
| Uterine leiomyosarcoma | 39 | FFPE | PH/CFCH |
| Early onset (dg⩽45 years) | 27 | PH | |
| Unselected | 12 | CFCH | |
| Sarcoma | 104 | Fresh frozen | PH |
| Soft tissue sarcoma (including two ULMS) | 83 | ||
| Bone sarcoma | 21 | ||
| Gastrointestinal stromal tumour | 12 | FFPE | CFCH |
| Extrauterine leiomyoma | 42 | FFPE | CFCH/PH |
| Endometrial polyp | 54 | FFPE | PH |
| Lipoma | 35 | FFPE | CFCH |
| Oestrogen–progesterone dependent | |||
| Ovarian carcinoma | 122 | FFPE/fresh frozen | PH |
| Clear cell | 39 | ||
| Serous | 44 | ||
| Mucinous | 10 | ||
| Endometrioid | 10 | ||
| NOS | 19 | ||
| Breast cancer | 94 | Fresh frozen | OGH/PH |
| Ductal | 68 | ||
| Lobular | 14 | ||
| Medullary | 4 | ||
| Other | 8 | ||
| Haematological malignancies | |||
| Acute myeloid leukaemia | 131 | Fresh/fresh frozen | AAUH/MSKCC |
| Acute lymphoid leukaemiaa | 37 | Fresh frozen | AAUH |
| Myeloproliferative neoplasm | 96 | Fresh/fresh frozen | MSKCC |
| Polycythemia vera | 48 | ||
| Essential thrombocytosis | 48 | ||
| Abnormal Wnt-signalling associated | |||
| Colorectal cancer | 392 | Fresh frozen | FCH |
Abbreviations: AAUH=Department of Hematology at Aarhus University Hospital; CFCH=Central Finland Central Hospital; FCH=Finnish Central Hospitals; FFPE=formalin-fixed paraffin-embedded; MSKCC=Memorial Sloan-Kettering Cancer Center; NOS=not otherwise specified; OGH=Department of Obstetrics and Gynecology at Helsinki University Central Hospital; PH=Department of Pathology at Helsinki University Central Hospital; ULMS=uterine leiomyosarcoma.
a
T-cell origin.