Table 2.
Key clinical characteristics and histopathology of DICER1-associated sarcomas reported in the literaturea
| Site of sarcoma | Number of cases | Age at diagnosisb median (range) | Genderc female (n) | Other DICER1-associated conditions | Diagnosisd (n) | Histopathologye |
||
|---|---|---|---|---|---|---|---|---|
| Rhabdomyoblastic differentiation | Anaplasia | Chondroid/myxoid differentiation | ||||||
| Number of cases with feature present/number of cases tested | ||||||||
| Brain | 26 | 6 y (0–76) | 13 | CBME (1) LC (1) CN (1) |
ERMS (1) DICER1-associated primitive intracranial sarcomae(1) Sarcoma/sarcoma NOS (19) PNET (1) Glioblastoma (1) Mesenchymal Chondrosarcoma (1) Malignant tumor NOS (2) |
21/24 | 17/20 | 18/24 |
| Uterus | 15 | 40.5 y (27–92) | 15 | Thyroid nodule (1) LC (1) |
ERMS (2) Adenosarcoma (10) Adenosarcoma with RMS differentiation (2) Carcinosarcoma (1) |
9/13 | 6/8 | 3/3 |
| Uterine cervix | 13 | 15 y (8–53) | 13 | MNG (7) PTC (1) LC (2) PPB (2) SLCT (3) Bladder ERMS (1) STS (1) |
ERMS (11) Adenosarcoma (1) Central PNET (1) Anaplastic sarcoma of the kidney (10) |
9/9 | 3/3 | 4/4 |
| Kidney | 10 | 8.9 y (0.6–13) | 6 | TFA (1) TFC (1) PPB (1) CN (1) Bladder RMS (1) SLCT (1) |
10/10 | 10/10 | 9/9 | |
| Ovary | 6 | 7.5 y (5–10) | 6 | MNG (1) CN (1) SLCT (1) |
ERMS (1) DICER1-associated ovarian sarcomae (1) Undifferentiated sarcoma (1) Carcinosarcoma (2) Fibrosarcoma (1) ERMS (5) |
4/4 | 5/5 | 2/2 |
| Bladder | 5 | 0.5 y (0.11–13) | 3 | CBME (1) TFA (1) PPB (2) ASK (1) SLCT (1) cERMS (1) |
5/5 | 1/1 | 1/1 | |
| Soft tissue | 5 | 23 y (16 to <39) | 4 | MNG (1) PTC (1) cERMS (1) |
ERMS (1) RMS (1) Leiomyosarcoma (1) Sarcoma (1) DICER1-associated metastatic peritoneal sarcomae (1) |
4/4 | 1/1 | 1/1 |
| Thyroid | 1 | 45 y | 1 | n/a | Carcinosarcoma (1) | 1/1 | 1/1 | 1/1 |
| Unknown | 5 | 14 y (14 to <20) | 1 | MNG (1) | ERMS (3) RMS (2) |
1/1 | 1/1 | n/a |
| Total N | 62 (72%) | 42 | 86 | 64/71 (90.1%) | 45/50 (90%) | 39/45 (86.7) | ||
ASK anaplastic sarcoma of the kidney, CBME ciliary body medulloepithelioma, CN cystic nephroma, LC lung cyst, MNG multinodular goiter, PPB pleuropulmonary blastoma, PNET primitive neuroectodermal tumor, PTC papillary thyroid carcinoma, NOS not otherwise specified, n/N number, n/a information not available, RMS rhabdomyosarcoma, ERMS embryonal rhabdomyosarcoma, cERMS cervical embryonal rhabdomyosarcoma, SLCT Sertoli–Leydig cell tumor, STS soft tissue sarcoma, TFA thyroid follicular adenoma, TFC thyroid follicular carcinoma, y years
Please refer to the Supplementary Table 2 for additional details
Exact age at diagnosis was not reported in 11 patients
The gender was not reported in three patients
Diagnosis as reported in the publication
Three DICER1-associated sarcomas reported in current study