Malignancies in 146 CMMRD patients
| Malignancies | Number of tumours | Median age at diagnosis in years | Age range at diagnosis in years |
|---|---|---|---|
| Haematological malignancies | |||
| Non-Hodgkin's lymphoma | 31 | 5 | 0.4–17 |
| Lymphoid leukaemia | 9 | 6 | 2–21 |
| Acute myeloid leukaemia | 5 | 9.5 | 6–17 |
| Malignant lymphoma | 1 | 15 | |
| Atypical chronic myeloid leukaemia | 1 | 1 | |
| Acute leukaemia | 1 | 2 | |
| Total | 48 | 6 | 0.4–21 |
| Malignant brain and central nervous system tumours | |||
| High-grade gliomas | 58 | 9.5 | 2–40 |
| sPNET | 8 | 8 | 4–17 |
| Medulloblastoma | 7 | 7 | 4–12 |
| Infiltrating cerebral angiosarcoma | 1 | 2 | |
| Cerebral anaplastic ganglioma | 1 | 9 | |
| Papillary ganglioneural tumour | 1 | 11 | |
| Not specified brain tumour | 5 | 8 | 4–24 |
| Total | 81 | 9 | 2–40 |
| LS-associated carcinomas | |||
| Colon/rectum* | 59 | 16 | 8–48 |
| Duodenum/jejunum/ileum | 18 | 28 | 11–42 |
| Endometrium | 6 | 28 | 23–44 |
| Bladder/ureter (papillary transitional cells) | 2 | 20 | 19 & 21 |
| Ureter/renal pelvis (unspecified) | 2 | 19 | 15 & 22 |
| Ovaries | 1 | 17 | |
| Total | 88 | 17 | 8–48 |
| Others | |||
| Neuroblastoma | 1 | 13 | |
| Nephroblastoma (Wilms tumour) | 1 | 4 | |
| Ovarian neuroectodermal tumour | 1 | 21 | |
| Infantile myofibromatosis | 1 | 1 | |
| Rhabdomyosarcoma | 1 | 4 | |
| Basal cell carcinoma | 1 | n.r. | |
| Muco-epidermoid ca. of parotis | 1 | 11 | |
| Osteosarcoma | 1 | 24 | |
| Total | 8 | ||
*Multiple synchronous bowel carcinomas were counted as one malignancy.
CMMRD, constitutional mismatch repair deficiency; LS, Lynch syndrome; sPNET, supratentorial primitive neuroectodermal tumours.