Cancer and MDS in patients with DBA
| Cancer diagnosis . | No. of patients . | O/E ratio (95% CI) . | Mutated gene . | Age at first cancer diagnosis (y), median (range) . |
|---|---|---|---|---|
| All cancer | 28 | 4.8 (3.2-6.9) | — | 35 (11-70) |
| Gastrointestinal cancer | ||||
| Colon carcinoma | 7 | 44.7 (18.0-92.1) | RPS19 (2; 5 unknown) | 41 (28-51)* |
| Gastroesophageal cancer | 1 | 28.2 (0.7-157.0) | RPS17 | 28 |
| Esophageal cancer | 1 | 64.6 (1.6-359.7) | RPL5 | 69† |
| Sarcoma | ||||
| Osteogenic sarcoma | 4 | 42.4 (11.6-108.7) | All unknown | 18 (11-34) |
| Soft tissue sarcoma | 1 | 6.6 (0.2-36.9) | Unknown | 30 |
| Genitourinary cancer | ||||
| Testicular cancer | 1 | 4.0 (0.1-22.2) | RPL35A | 42 |
| Uterine cancer | 1 | 0 (0-24.1) | RPS19 | 64 |
| Cervical cancer | 1 | 7.1 (0.2-39.3) | RPS19 | 27 |
| Squamous cell carcinoma (vaginal) | 1 | 172.4 (4.4-960.3) | RPL11 | 41 |
| Skin cancer | ||||
| Melanoma | 1 | 2.0 (0.1-11.0) | RPL5 | 50‡ |
| Squamous cell carcinoma (oral) | 1 | 9.1 (0.2-50.7) | RPL11 | 59 |
| Other cancer | ||||
| Breast cancer | 2 | 2.1 (0.3-7.6) | RPS19 (1; 1 unknown) | 34, 43§ |
| Lung cancer | 1 | 9.4 (1.1-33.8) | RPS19 | 49 |
| Choroid meningioma of the lung | 1 | Included in lung cancer above | RPS19 | 21 |
| Hematologic cancer | ||||
| Non-Hodgkin lymphoma | 1 | 3.3 (0.1-19.0) | RPL5 | 41 |
| AML | 3 | 28.8 (5.9-84.0) | RPL35A (2; 1 unknown) | 44 (15-46) |
| MDS | ||||
| MDS | 8 | 352.1 (152.0-693.8) | RPL35A(2), GATA1 (1) (5 unknown) | 26 (2-53) |
| Skin cancer excluded from analysis | ||||
| Basal cell carcinoma | 3 | Not available | All unknown | 54 (29-54) |
| Squamous cell carcinoma | 3 | Not available | RPL11 (1; 2 unknown) | 54 (50-54) |
| Posttransplant cancer excluded from analysis | ||||
| Colorectal carcinoma | 2 | 346.9 (42.0-1253.0) | Both unknown | 19, 29 |
| Osteosarcoma | 1 | 257.8 (6.5-1436.2) | Unknown | 4 |
| Lung cancer | 1 | 468.3 (11.9-2609.4) | RPL11|| | 43 |
| Wilms tumor | 1 | 228.6 (5.8-1273.4) | RPL35A¶ | 8 |
| Cancer diagnosis . | No. of patients . | O/E ratio (95% CI) . | Mutated gene . | Age at first cancer diagnosis (y), median (range) . |
|---|---|---|---|---|
| All cancer | 28 | 4.8 (3.2-6.9) | — | 35 (11-70) |
| Gastrointestinal cancer | ||||
| Colon carcinoma | 7 | 44.7 (18.0-92.1) | RPS19 (2; 5 unknown) | 41 (28-51)* |
| Gastroesophageal cancer | 1 | 28.2 (0.7-157.0) | RPS17 | 28 |
| Esophageal cancer | 1 | 64.6 (1.6-359.7) | RPL5 | 69† |
| Sarcoma | ||||
| Osteogenic sarcoma | 4 | 42.4 (11.6-108.7) | All unknown | 18 (11-34) |
| Soft tissue sarcoma | 1 | 6.6 (0.2-36.9) | Unknown | 30 |
| Genitourinary cancer | ||||
| Testicular cancer | 1 | 4.0 (0.1-22.2) | RPL35A | 42 |
| Uterine cancer | 1 | 0 (0-24.1) | RPS19 | 64 |
| Cervical cancer | 1 | 7.1 (0.2-39.3) | RPS19 | 27 |
| Squamous cell carcinoma (vaginal) | 1 | 172.4 (4.4-960.3) | RPL11 | 41 |
| Skin cancer | ||||
| Melanoma | 1 | 2.0 (0.1-11.0) | RPL5 | 50‡ |
| Squamous cell carcinoma (oral) | 1 | 9.1 (0.2-50.7) | RPL11 | 59 |
| Other cancer | ||||
| Breast cancer | 2 | 2.1 (0.3-7.6) | RPS19 (1; 1 unknown) | 34, 43§ |
| Lung cancer | 1 | 9.4 (1.1-33.8) | RPS19 | 49 |
| Choroid meningioma of the lung | 1 | Included in lung cancer above | RPS19 | 21 |
| Hematologic cancer | ||||
| Non-Hodgkin lymphoma | 1 | 3.3 (0.1-19.0) | RPL5 | 41 |
| AML | 3 | 28.8 (5.9-84.0) | RPL35A (2; 1 unknown) | 44 (15-46) |
| MDS | ||||
| MDS | 8 | 352.1 (152.0-693.8) | RPL35A(2), GATA1 (1) (5 unknown) | 26 (2-53) |
| Skin cancer excluded from analysis | ||||
| Basal cell carcinoma | 3 | Not available | All unknown | 54 (29-54) |
| Squamous cell carcinoma | 3 | Not available | RPL11 (1; 2 unknown) | 54 (50-54) |
| Posttransplant cancer excluded from analysis | ||||
| Colorectal carcinoma | 2 | 346.9 (42.0-1253.0) | Both unknown | 19, 29 |
| Osteosarcoma | 1 | 257.8 (6.5-1436.2) | Unknown | 4 |
| Lung cancer | 1 | 468.3 (11.9-2609.4) | RPL11|| | 43 |
| Wilms tumor | 1 | 228.6 (5.8-1273.4) | RPL35A¶ | 8 |
Bold rows are statistically significant (P < .05). Eight patients had a cancer diagnosis prior to enrollment in the DBAR (choroid meningioma, age 21 years; colon cancer, age 43 years; colon cancer, age 34 y; osteosarcoma, age 14 years; testicular cancer, age 41 years; soft tissue sarcoma, age 30 years; uterine cancer, age 64 years; and breast and colon cancer, ages 43 and 49 years in the same patient), and 1 patient had MDS/AML at age 43 years.
RPS (L), ribosomal protein small (large) subunit associated.
One of the genetically unknown patients had breast cancer.
Patient previously had melanoma.
Patient later had esophageal cancer.
Patient later had colon cancer.
Also heavy smoker.
Gene in unrelated duplicated area (8q24.1) is a putative Wilms tumor–associated proto-oncogene (nephroblastoma overexpressed [NOV]).