Table 1. Survival and history of cancer in the families of children with CPC carrying the R337H mutation.
Patient | Gender/Age(years) | Treatment | Outcome | Histopathology | Blood DNAR337H | Tumor DNAR337H | Family history of cancer | |
IPSI | CONTRA | |||||||
n | n | |||||||
1 | F/13.6 | - | Deceased | CPC | R337H/Wt*** | NA | 4 | 0 |
2 | M/1.8 | CSR/Ct | Deceased | CPC | R337H/Wt | R337H/- | NA | 1 |
3 | M/2.5 | CSR/Ct | Deceased | CPC | R337H/Wt | -/Wt | 1 | 1 |
4 | F/0.4 | CSR/Ct | Deceased | CPC | R337H/Wt | -/Wt | 4 | 0 |
5 | M/11 | CSR/Ct | Deceased | CPC | R337H/Wt | R337H/Wt | 4 | 0 |
6 | M/0.9 | CSR/Ct | Alive | CPC | R337H/Wt | R337H/Wt | 3 | 0 |
7 | M/2.3 | CSR/Ct | Deceased | CPC | R337H/Wt | R337H/Wt | 7 | NA |
8 | M/6.6 | CSR/Ct | Deceased | CPC | R337H/Wt | R337H/Wt | 4 | 1 |
9 | M/2.9 | CSR/Ct | Alive | CPC | R337H/Wt | R337H/Wt | 8 | 0 |
10 | M/1.2 | CSR/Ct | Deceased | CPC | R337H/Wt | R337H/Wt | 2 | 1 |
11 | F/5.9 | CSR/Ct | Alive* | CPC | R337H/Wt | R337H/- | 0 | NA |
12 | F/0.9 | CSR/Ct | Deceased | CPC | R337H/Wt | R337H/Wt | 3 | NA |
13 | M/4 | CSR/Ct | Alive* | CPC | R337H/Wt | R337H/- | 5 | 0 |
14 | M/0.08 | CSR/Ct | Alive* | CPC | R337H/Wt | R337H/- | 6 | NA |
Total | 14 | 13 | 13 | 51 | 4 | |||
Survival rate** | 2/11 (18.1%) |
CSR, Complete surgical removal; Ct, Chemotherapy; NA, Not available.
*<5 years free of disease;
**>5 years free of disease;
***DNA analysis estimated from their parents.
The number of cancer cases in each family was shown in the IPSI (ipsilateral) and CONTRA (contralateral) to the parental side segregating the R337H mutation.