Immunophenotypic, transcriptional, and genotypic profiles of immature and TCR-γδ lineage T-ALLs
| . | IM* . | Pre-αβ . | TCRγδ† . | ||||
|---|---|---|---|---|---|---|---|
| IM0 . | IMδ . | IMγ . | IMβ . | — . | pTα+ . | PTα− . | |
| TCRδ status | GL | R | R | R/Del | — | — | — |
| TCRγ status | GL | GL | R | R | — | — | — |
| TCRβ status | GL | GL/DJ | GL/DJ | V(D)J | — | — | — |
| T-ALLs | 4 | 8 | 13 | 8 | 27 | 8 | 13 |
| Phenotype | |||||||
| CD34, % | 100 | 75 | 46 | 75 | 7 | 50 | 17 |
| CD117, % | 0 | 13‡ | 0 | 13‡ | 0 | 0 | 0 |
| CD13/33, % | 75 | 63 | 62 | 25 | 4 | 38 | 8 |
| CD56, % | 25 | 50 | 40 | 33 | 0 | 17 | 0 |
| CD5, % | 75 | 63 | 77 | 100 | 96 | 100 | 100 |
| CD2, % | 75 | 50 | 38 | 63 | 89 | 38 | 53 |
| CD4/8 DN, % | 100 | 88 | 85 | 38 | 4 | 12 | 53 |
| CD4 SP, % | 0 | 0 | 15 | 38 | 7 | 25 | 25 |
| CD8 SP, % | 0 | 13 | 0 | 13 | 19 | 0 | 21 |
| CD4/8 DP, % | 0 | 0 | 0 | 13 | 70 | 63 | 8 |
| CD1a, % | 50 | 0 | 8 | 43 | 85 | 38 | 15 |
| CD10, % | 0 | 0 | 15 | 75 | 46 | 75 | 30 |
| TdT, % | 75 | 57 | 64 | 86 | 95 | 100 | 50 |
| CTCRβ, % | 0 | 0 | 0 | 0 | 100 | 25 | 0 |
| pTα/RAG-1 | |||||||
| RAG-1hi, % | 0 | 12 | 0 | 71 | 100 | 100 | 0 |
| PTα, % | 25 | 12 | 8 | 43 | 100 | — | — |
| TCRδ1-153 | |||||||
| Unidentified alleles | 0 | 1 | 0 | 2 | 11 | 2 | 0 |
| Identified alleles/T-ALL | 0 | 1.63 | 1.61 | 1 | 0.67 | 1.37 | 1.62 |
| Dδ2-Dδ3, % | — | 62 | 5 | 0 | 5 | 0 | 5 |
| Vδ2-Dδ3, % | — | 8 | 38 | 13 | 0 | 0 | 5 |
| Dδ2-Jδ1, % | — | 22 | 48 | 37 | 11 | 0 | 10 |
| Vδ1-Jδ1, % | — | 0 | 9 | 13 | 50 | 45 | 52 |
| Vδ(2-6)-Jδ1, % | — | 8 | 0 | 37 | 34 | 18 | 23 |
| Vδ(1-6)-Jδ(2-4), % | — | 0 | 0 | 0 | 0 | 37 | 5 |
| TCRγ | |||||||
| Identified alleles/T-ALL | 0 | 0 | 1.77 | 2 | 1.85 | 2 | 1.85 |
| Vf1-Jγ1/2, % | — | — | 26 | 75 | 66 | 75 | 54 |
| Vγ9-11/Jγ1/2, % | — | — | 52 | 19 | 20 | 25 | 25 |
| Vγ-JP/JP1/2, % | — | — | 22 | 6 | 14 | 0 | 21 |
| TCRβ | |||||||
| GL/GL, % | 100 | 75 | 69 | 0 | 0 | 0 | 10 |
| Identified alleles/T-ALL | 0 | 0.25 | 0.38 | 1.75 | 1.63 | 2.2 | 0.77 |
| DJ, % | — | 100 | 100 | 20 | 34 | 22 | 80 |
| V(D)J, % | — | 0 | 0 | 80 | 66 | 78 | 20 |
| . | IM* . | Pre-αβ . | TCRγδ† . | ||||
|---|---|---|---|---|---|---|---|
| IM0 . | IMδ . | IMγ . | IMβ . | — . | pTα+ . | PTα− . | |
| TCRδ status | GL | R | R | R/Del | — | — | — |
| TCRγ status | GL | GL | R | R | — | — | — |
| TCRβ status | GL | GL/DJ | GL/DJ | V(D)J | — | — | — |
| T-ALLs | 4 | 8 | 13 | 8 | 27 | 8 | 13 |
| Phenotype | |||||||
| CD34, % | 100 | 75 | 46 | 75 | 7 | 50 | 17 |
| CD117, % | 0 | 13‡ | 0 | 13‡ | 0 | 0 | 0 |
| CD13/33, % | 75 | 63 | 62 | 25 | 4 | 38 | 8 |
| CD56, % | 25 | 50 | 40 | 33 | 0 | 17 | 0 |
| CD5, % | 75 | 63 | 77 | 100 | 96 | 100 | 100 |
| CD2, % | 75 | 50 | 38 | 63 | 89 | 38 | 53 |
| CD4/8 DN, % | 100 | 88 | 85 | 38 | 4 | 12 | 53 |
| CD4 SP, % | 0 | 0 | 15 | 38 | 7 | 25 | 25 |
| CD8 SP, % | 0 | 13 | 0 | 13 | 19 | 0 | 21 |
| CD4/8 DP, % | 0 | 0 | 0 | 13 | 70 | 63 | 8 |
| CD1a, % | 50 | 0 | 8 | 43 | 85 | 38 | 15 |
| CD10, % | 0 | 0 | 15 | 75 | 46 | 75 | 30 |
| TdT, % | 75 | 57 | 64 | 86 | 95 | 100 | 50 |
| CTCRβ, % | 0 | 0 | 0 | 0 | 100 | 25 | 0 |
| pTα/RAG-1 | |||||||
| RAG-1hi, % | 0 | 12 | 0 | 71 | 100 | 100 | 0 |
| PTα, % | 25 | 12 | 8 | 43 | 100 | — | — |
| TCRδ1-153 | |||||||
| Unidentified alleles | 0 | 1 | 0 | 2 | 11 | 2 | 0 |
| Identified alleles/T-ALL | 0 | 1.63 | 1.61 | 1 | 0.67 | 1.37 | 1.62 |
| Dδ2-Dδ3, % | — | 62 | 5 | 0 | 5 | 0 | 5 |
| Vδ2-Dδ3, % | — | 8 | 38 | 13 | 0 | 0 | 5 |
| Dδ2-Jδ1, % | — | 22 | 48 | 37 | 11 | 0 | 10 |
| Vδ1-Jδ1, % | — | 0 | 9 | 13 | 50 | 45 | 52 |
| Vδ(2-6)-Jδ1, % | — | 8 | 0 | 37 | 34 | 18 | 23 |
| Vδ(1-6)-Jδ(2-4), % | — | 0 | 0 | 0 | 0 | 37 | 5 |
| TCRγ | |||||||
| Identified alleles/T-ALL | 0 | 0 | 1.77 | 2 | 1.85 | 2 | 1.85 |
| Vf1-Jγ1/2, % | — | — | 26 | 75 | 66 | 75 | 54 |
| Vγ9-11/Jγ1/2, % | — | — | 52 | 19 | 20 | 25 | 25 |
| Vγ-JP/JP1/2, % | — | — | 22 | 6 | 14 | 0 | 21 |
| TCRβ | |||||||
| GL/GL, % | 100 | 75 | 69 | 0 | 0 | 0 | 10 |
| Identified alleles/T-ALL | 0 | 0.25 | 0.38 | 1.75 | 1.63 | 2.2 | 0.77 |
| DJ, % | — | 100 | 100 | 20 | 34 | 22 | 80 |
| V(D)J, % | — | 0 | 0 | 80 | 66 | 78 | 20 |
Immature (IM) sCD3 cTCRβ-negative cases were divided into those demonstrating no TCR rearrangement (IM0), those with only TCRδ rearrangement (IM δ), those with TCRγ and TCRδ rearrangement (IMγ), and those with TCRβ V(D)J on at least one allele (IMβ). IMγ and IMδ demonstrated either no or only DJ TCRβ rearrangement.
TCRγδ were divided on the basis of pTα expression.
Both CD117+ cases were CD13/33 and, notably, CD34−.
TCR rearrangements are expressed as rearranged alleles. All IM cases were assessed for all 3 TCR loci. One TCRγδ negative by TCRδ PCR and not analyzed by Southern blot was presumed to have one unidentified rearrangement and one deleted allele. A significant proportion of, particularly pre-αβ, cases demonstrated Jδ1 rearrangements that were not detected by multiplex PCR and, as such, potentially represented Vα-Dδ3/Jδ1, δRec-Dδ3/Jδ1, transrearrangements, or translocations involving Dδ3 or Jδ1.
— indicates not applicable.