AFs of TP53 variants identified at initial diagnosis of patients with T-ALL and in corresponding relapse samples
| Patient number . | TP53 variant . | TP53 AF . | |
|---|---|---|---|
| Initial diagnosis, % . | Relapse, % . | ||
| 9 | A159D | 5.4 | 42 Infiltrated LN sample |
| 41 | R248Q | 5.7 | n.a.∗ |
| 110 | R248W | 24.9 | n.a. |
| 95 | R196X | 26.6 | 6† |
| R282W | 37.7 | 9† | |
| 126 | R248W | 49.4 | n.a. |
| 153 | R248Q | 4.4 | 3/6‡ BM/PB at the time of relapse with 95% blasts in BM |
| Patient number . | TP53 variant . | TP53 AF . | |
|---|---|---|---|
| Initial diagnosis, % . | Relapse, % . | ||
| 9 | A159D | 5.4 | 42 Infiltrated LN sample |
| 41 | R248Q | 5.7 | n.a.∗ |
| 110 | R248W | 24.9 | n.a. |
| 95 | R196X | 26.6 | 6† |
| R282W | 37.7 | 9† | |
| 126 | R248W | 49.4 | n.a. |
| 153 | R248Q | 4.4 | 3/6‡ BM/PB at the time of relapse with 95% blasts in BM |
A total of 7 TP53 variants were detected in 6 patients with T-ALL, who later relapsed.
BM, bone marrow; CNS, central nervous system; LN, lymph node; n.a., not available; PB, peripheral blood.
The BM sample that was free of blasts by cytomorphology obtained at the time of an isolated CNS relapse did not reveal the TP53 variant identified at the time of initial disease. CSF was not available.
This patient had a nodal relapse. Material from the LN was not available for analysis. The BM analyzed was collected 4 weeks after therapy of the relapse had been initiated. Although cytomorphology of the BM did not reveal any blasts, exome sequencing indicated the presence of leukemia by detecting the TP53 variants that had been present at initial diagnosis at an AF of 6% and 9%, respectively.
The BM and PB of this patient revealed similar AFs of the TP53 variant at initial disease and at relapse. This patient had acquired a clonal USP7 variant at relapse (see text).