Table 3.
Cancer in the Major IBMFS
F) Clones in Shwachman-Diamond Syndrome
| Type | Subtype | Mono7 or der (7) | i(7q) | del(20) | Not 7 or 20 | At least one clone |
|---|---|---|---|---|---|---|
| All patients | 28 | 35 | 19 | 26 | 87 | |
| Leukemia | Total Leukemia | 7 | 0 | 2 | 16 | 17 |
| AML | 6 | 0 | 2 | 14 | 15 | |
| ALL | 0 | 0 | 0 | 1 | 1 | |
| JCML | 0 | 0 | 0 | 0 | 0 | |
| AML after BMT | 1 | 0 | 0 | 1 | 1 | |
| MDS | Total MDS | 24 | 35 | 17 | 15 | 76 |
| RA | 12 | 16 | 3 | 8 | 31 | |
| RARS | 0 | 0 | 0 | 0 | 0 | |
| RAEB | 1 | 0 | 0 | 2 | 2 | |
| RAEBT | 1 | 0 | 0 | 2 | 2 | |
| Clone alone | 10 | 19 | 14 | 3 | 41 |
Abbreviations as in (E). 4 patients had leukemia following the diagnosis of MDS (1 was post-transplant), and thus the total number of patients exceeds the sum of those with leukemia plus those with MDS. 21 patients had multiple clones.