Table 1.

Immunophenotypic, transcriptional, and genotypic profiles in T-ALL

sCD3
cTCRβ
sCD3
cTCRβ+
sCD3+
TCR
sCD3+TCR αβ+sCD3+ TCR γδ+Total
IMPre-αβTCRαβ DPTCRαβ SP/DNTCRγδ
No. T-ALLs (%) 33  (29) 27  (24) 9  (8) 11  (10) 11  (10) 23  (20) 114 
Phenotype        
 CD34 (%) 22/33  (66) 2/27  (7) 3/9  (33) 4/10  (40) 4/11  (36) 6/22  (27) 41/112  (37)  
 CD117 (%) 2/33  (6) 0/23  (0) 0/5  (0) 0/9  (0) 0/9  (0) 0/16  (0) 2/93  (2)  
 CD133-150 (%) 9/33  (27) 0/27  (0) 0/9  (0) 0/9  (0) 1/9  (11) 2/22  (9) 12/109  (11)  
 CD333-150 (%) 12/33  (36) 1/26  (4) 0/9  (0) 0/9  (0) 1/9  (11) 2/21  (10) 16/107  (15) 
 CD56 (%) 9/26  (35) 0/15  (0) 0/6  (0) 0/8  (0) 0/8  (0) 1/13  (8) 10/76  (13)  
 CD5 (%) 25/33  (75) 26/27  (96) 9/9  (100) 11/11  (100) 11/11  (100) 22/23  (96) 104/113  (92)  
 CD2 (%) 16/33  (45) 24/27  (89) 7/9  (78) 11/11  (100) 9/11  (82) 10/23  (43) 77/114  (68)  
 CD4/8 DN (%) 25/33  (75) 1/27  (4) 2/9  (22) 0/11  (0) 3/11  (27) 7/22  (32) 38/113  (33)  
 CD4 SP (%) 5/33  (15) 2/27  (7) 1/9  (11) 0/11  (0) 6/11  (55) 5/22  (23) 19/113  (17)  
 CD8 SP (%) 2/33  (6) 5/27  (19) 0/9  (0) 0/11  (0) 2/11  (18) 3/22  (14) 12/113  (11)  
 CD4/8 DP (%) 1/33  (3) 19/27  (70) 6/9  (67) 11/11  (100) 0/11  (0) 7/22  (32) 44/113  (39)  
 CD1a (%) 6/32  (19) 23/27  (85) 7/9  (78) 5/11  (45) 5/11  (45) 6/23  (26) 51/113  (45)  
 CD10 (%) 8/32  (25) 12/26  (46) 2/9  (22) 4/11  (36) 2/11  (18) 11/23  (48) 39/112  (35)  
 TdT (%) 21/29  (72) 20/21  (95) 6/6  (100) 10/11  (91) 7/10  (70) 10/14  (71) 74/91  (81)  
 cTCRβ (%) 0/33  (0) 27/27  (100) 5/9  (56) 7/7  (100) 8/8  (100) 2/15  (13) 49/99  (50) 
PTα/RAG-13-151        
 pTα (%) 6/31  (19) 25/25  (100) 7/9  (78) 7/7  (100) 5/9  (56) 8/21  (38) 58/102  (57)  
 RAG-1 (%) 6/29  (21) 22/22  (100) 7/9  (78) 5/5  (100) 6/8  (75) 6/18  (33) 52/91  (57)  
TCRδ PCR and/or Southern3-152        
 GL/GL cases (%) 4/33  (12) 0/233-153  (0) 0/9  (0) 0/10  (0) 0/83-153  (0) 0/223-153  (0) 4/105  (5)  
 R/(R-G-Del) cases (%) 27/33  (82) 22/27  (81) 8/9  (89) 4/10  (40) 2/11  (18) 22/23  (96) 83/113  (75)  
 Del/Del cases (%) 2/33  (6) 1/23  (4) 1/9  (11) 6/10  (60) 6/8  (75) 0/22  (0) 16/105  (15)  
 VD or DD alleles (%) 18/41  (44) 1/19  (5) 0/12  (0) 0/10  (0) 0/11  (0) 2/35  (6) 21/114  (19)  
 DJ alleles (%) 16/41  (39) 2/19  (11) 1/12  (8) 1/10  (10) 0/11  (0) 2/35  (6) 21/114  (19)  
 V(D)J alleles (%) 7/41  (17) 16/19  (84) 11/12  (92) 3/10  (30) 4/11  (36) 31/35  (89) 66/108  (61)  
TCRγ PCR        
 Neg cases (%) 12/33  (36) 0/27  (0) 0/9  (0) 0/11  (0) 0/11  (0) 0/23  (0) 12/114  (11)  
 Immature cases (3′V-5′J)3-155 (%) 16/33  (49) 15/27  (56) 5/9  (56) 6/11  (55) 7/11  (64) 15/23  (65) 64/114  (56)  
 End-stage cases (5′V-3′J)3-155 (%) 5/33  (15) 12/27  (44) 4/9  (44) 5/11  (45) 4/11  (36) 8/23  (35) 38/114  (33) 
TCRβ PCR        
 Neg cases (%) 18/33  (55) 0/26  (0) 0/8  (0) 0/9  (0) 0/10  (0) 1/19  (5) 19/104  (18)  
 Only DJ cases (%) 7/33  (21) 1/263-154  (4) 2/8  (25) 3/9  (33) 0/10  (0) 7/19  (37) 20/104  (19)  
 At least one V(D)J case (%) 8/33  (24) 25/26  (96) 6/8  (75) 6/9  (67) 10/10  (100) 11/19  (58) 65/104  (63) 
sCD3
cTCRβ
sCD3
cTCRβ+
sCD3+
TCR
sCD3+TCR αβ+sCD3+ TCR γδ+Total
IMPre-αβTCRαβ DPTCRαβ SP/DNTCRγδ
No. T-ALLs (%) 33  (29) 27  (24) 9  (8) 11  (10) 11  (10) 23  (20) 114 
Phenotype        
 CD34 (%) 22/33  (66) 2/27  (7) 3/9  (33) 4/10  (40) 4/11  (36) 6/22  (27) 41/112  (37)  
 CD117 (%) 2/33  (6) 0/23  (0) 0/5  (0) 0/9  (0) 0/9  (0) 0/16  (0) 2/93  (2)  
 CD133-150 (%) 9/33  (27) 0/27  (0) 0/9  (0) 0/9  (0) 1/9  (11) 2/22  (9) 12/109  (11)  
 CD333-150 (%) 12/33  (36) 1/26  (4) 0/9  (0) 0/9  (0) 1/9  (11) 2/21  (10) 16/107  (15) 
 CD56 (%) 9/26  (35) 0/15  (0) 0/6  (0) 0/8  (0) 0/8  (0) 1/13  (8) 10/76  (13)  
 CD5 (%) 25/33  (75) 26/27  (96) 9/9  (100) 11/11  (100) 11/11  (100) 22/23  (96) 104/113  (92)  
 CD2 (%) 16/33  (45) 24/27  (89) 7/9  (78) 11/11  (100) 9/11  (82) 10/23  (43) 77/114  (68)  
 CD4/8 DN (%) 25/33  (75) 1/27  (4) 2/9  (22) 0/11  (0) 3/11  (27) 7/22  (32) 38/113  (33)  
 CD4 SP (%) 5/33  (15) 2/27  (7) 1/9  (11) 0/11  (0) 6/11  (55) 5/22  (23) 19/113  (17)  
 CD8 SP (%) 2/33  (6) 5/27  (19) 0/9  (0) 0/11  (0) 2/11  (18) 3/22  (14) 12/113  (11)  
 CD4/8 DP (%) 1/33  (3) 19/27  (70) 6/9  (67) 11/11  (100) 0/11  (0) 7/22  (32) 44/113  (39)  
 CD1a (%) 6/32  (19) 23/27  (85) 7/9  (78) 5/11  (45) 5/11  (45) 6/23  (26) 51/113  (45)  
 CD10 (%) 8/32  (25) 12/26  (46) 2/9  (22) 4/11  (36) 2/11  (18) 11/23  (48) 39/112  (35)  
 TdT (%) 21/29  (72) 20/21  (95) 6/6  (100) 10/11  (91) 7/10  (70) 10/14  (71) 74/91  (81)  
 cTCRβ (%) 0/33  (0) 27/27  (100) 5/9  (56) 7/7  (100) 8/8  (100) 2/15  (13) 49/99  (50) 
PTα/RAG-13-151        
 pTα (%) 6/31  (19) 25/25  (100) 7/9  (78) 7/7  (100) 5/9  (56) 8/21  (38) 58/102  (57)  
 RAG-1 (%) 6/29  (21) 22/22  (100) 7/9  (78) 5/5  (100) 6/8  (75) 6/18  (33) 52/91  (57)  
TCRδ PCR and/or Southern3-152        
 GL/GL cases (%) 4/33  (12) 0/233-153  (0) 0/9  (0) 0/10  (0) 0/83-153  (0) 0/223-153  (0) 4/105  (5)  
 R/(R-G-Del) cases (%) 27/33  (82) 22/27  (81) 8/9  (89) 4/10  (40) 2/11  (18) 22/23  (96) 83/113  (75)  
 Del/Del cases (%) 2/33  (6) 1/23  (4) 1/9  (11) 6/10  (60) 6/8  (75) 0/22  (0) 16/105  (15)  
 VD or DD alleles (%) 18/41  (44) 1/19  (5) 0/12  (0) 0/10  (0) 0/11  (0) 2/35  (6) 21/114  (19)  
 DJ alleles (%) 16/41  (39) 2/19  (11) 1/12  (8) 1/10  (10) 0/11  (0) 2/35  (6) 21/114  (19)  
 V(D)J alleles (%) 7/41  (17) 16/19  (84) 11/12  (92) 3/10  (30) 4/11  (36) 31/35  (89) 66/108  (61)  
TCRγ PCR        
 Neg cases (%) 12/33  (36) 0/27  (0) 0/9  (0) 0/11  (0) 0/11  (0) 0/23  (0) 12/114  (11)  
 Immature cases (3′V-5′J)3-155 (%) 16/33  (49) 15/27  (56) 5/9  (56) 6/11  (55) 7/11  (64) 15/23  (65) 64/114  (56)  
 End-stage cases (5′V-3′J)3-155 (%) 5/33  (15) 12/27  (44) 4/9  (44) 5/11  (45) 4/11  (36) 8/23  (35) 38/114  (33) 
TCRβ PCR        
 Neg cases (%) 18/33  (55) 0/26  (0) 0/8  (0) 0/9  (0) 0/10  (0) 1/19  (5) 19/104  (18)  
 Only DJ cases (%) 7/33  (21) 1/263-154  (4) 2/8  (25) 3/9  (33) 0/10  (0) 7/19  (37) 20/104  (19)  
 At least one V(D)J case (%) 8/33  (24) 25/26  (96) 6/8  (75) 6/9  (67) 10/10  (100) 11/19  (58) 65/104  (63) 
F3-150

Only 5 cases (4 IM, 1 TCRαβ) expressed CD13 and CD33.

F3-151

Five cases were classified as noninformative for pTα and 16 for RAG-1, including 2 IM, 6 pre-αβ, 6 TCRαβ, and 4 TCRγδ. pTα and RAG-1 expression were closely correlated, with each expressed in 57% of cases overall; 47 expressed both transcripts, and 37 expressed neither. pTα expression in the absence of RAG-1 was only seen in 2 IM, and isolated RAG-1 expression was seen in 2 IMβ and 1 DN TCRαβ. pTα and RAG-1 negativity was restricted to IM, TCRγδ, and TCRαβ SP/DN T-ALLs.

F3-152

TCRδ configurations refer to T-ALL cases unless specified as (rearranged) alleles. GL indicates germline; R, rearranged; Del, deleted. TCRδ rearrangement on at least one allele was seen by Southern blot analysis in 75% of cases. In total, it was possible to identify 108 TCRδ rearrangements in 85 T-ALLs. These were classified as non–T-restricted VD ior DD, immature DJ, or complete V(D)J rearrangements.

F3-153

Four pre-αβ, 3 TCRαβ, and 1 TCRγδ were TCRδ multiplex PCR negative and were not analyzed by Southern blot, thus preventing distinction between a germline, bilateral deletion, and an unidentified rearranged profile.

F3-155

Because the TCRγ locus does not contain D segments, we classified T-ALLs as demonstrating an immature TCRγ recombination if a rearrangement involving Vγ9, Vγ10, Vγ11, JP, and/or JP1/2 (3′Vγ-5′Jγ) was observed on at least one allele, and as demonstrating end-stage if only Vγf1-Jγ1/2 rearrangements (5′Vγ-3′Jγ) were observed. TCRγ rearrangement on at least one allele was seen in 89% of cases. Most rearranged TCRγ alleles involved the Vγf1-Jγ1/2 (60%), Vγ10, and Vγ11 pseudogenes (22%), and Vγ9 (18%). Twenty-six JP1/2 and 2 JP (Vγf1) rearrangements were identified.

F3-154

These cases probably correspond to a failure of the Vβ family-specific primers to recognize the functional rearrangement, corresponding to a 9% false-negative rate.

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