Table 4.
Patient | Age | Severity | Race* | Mutation | Peak NBU | Peak CBU | FLI | DRVVT | Persistence | Treatment Change | Interpretation |
---|---|---|---|---|---|---|---|---|---|---|---|
A. Patients with Positive NBU > 2.0 and Positive Chromogenic Bethesda Units (CBU) | |||||||||||
1 | 1.5 | Severe | AS | Deletion del exons 7–9 | 688.0 | 512.0 | 4.25 | N | >3 years | By-passing agent, ITI | Persistent |
2 | 18 | Mild | WNH | Missense, Arg1941Gln | 55.6 | 72.8 | 1.84 | N | > 3years | By-passing agent | Persistent |
3 | 3 | Severe | OTH | Nonsense, Arg427Stop | 54.4 | 54.7 | - | - | > 10 months | By-passing agent | Persistent |
4 | 1 | Severe | WNH | Inversion 22 | 18.7 | 12.4 | 7.89 | N | < 7 months | By-passing agent, ITI | Persistent |
5 | 2.9 | Severe | OTH | Frameshift51–52delTTGT | 14.1 | 14.8 | 3.54 | N | Unknown | By-passing agent | Persistent |
6 | 4 | Moderate | BNH | Inversion 22 | 6.5 | 6.5 | 2.89 | - | > 1 year | By-passing agent, ITI | Persistent |
7 | 5 | Severe | WNH | Inversion 22 | 3.9 | - | 1.47 | - | Unknown | Unknown | ? |
8 | 2 | Severe | WNH | Frameshift, 2154delAA | 2.6 | 2.9 | 0.54 | - | <9 months | ITI | Persistent |
| |||||||||||
B. Patients with Positive NBU < 2.0 and Positive CBU | |||||||||||
9 | 12 | Mild | WNH | Missense Arg593Cys | 1.8 | 0.9 | 6.17 | N | > 5 months | By-passing agent | Persistent |
10 | 61 | Severe | WNH | Nonsense 2229Stop | 1.5 | 0.8 | 0.58 | N | > 2 years | No change | Persistent |
11 | 2 | Severe | WH | Inversion 22 | 1.3 | 0.9 | 0.50 | N | > 1 year | No change | Persistent |
12 | 5 | Severe | WH | Inversion 22 | 1.7 | 0.7 | 0.54 | N | < 1 year | No change | Transient |
13 | 2 | Severe | WNH | Frameshift833ins13 | 0.7 | 0.5 | 3.06 | N | < 3 months | No change | Transient |
14 | 46 | Mild | WNH | Missense Ser535Gly | 1.7 | 3.3 | 6.40 | N | > 1 month | By-passing agent | ? |
15 | 41 | Moderate | WNH | Frameshift1424delAAGA | 0.7 | 0.9 | 2.35 | N | Unknown | By-passing agent, ITI | ? |
16 | 2 | Severe | WH | Inversion 22 | 0.5 | 0.7 | - | N | Unknown | Unknown | ? |
| |||||||||||
C. Patients with Positive NBU and Negative CBU | |||||||||||
17 | 5 | Severe | WNH | Frameshift 1615delA | 0.7 | 0.3 | 0.36 | N | > 1 year | By-passing agent | Persistent |
18 | 18 | Moderate | WNH | Missense Val326Ala | 1.3 | 0 | - | N | < 1 year | No prior product | False positive |
19 | 29 | Mild | WNH | Missense Arg593Cys | 0.9 | 0.3 | 0.19 | N | Unknown | No prior product | False positive |
20 | 15 | Severe | WNH | Frameshift1194delA | 0.7 | 0.1 | 0.03 | N | < 1 month | No change | False-positive or transient |
21 | 10 | Severe | WNH | Frameshift 1049delGA | 0.8 | 0 | 0.34 | N | Unknown | Unknown | ? |
AS=Asian, BNH=Black non-Hispanic, OTH=other, WH=White Hispanic, WNH=White non-Hispanic