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Table. 1.

Table. 1.

Patient characteristics and concurrent NGS results

No. Case Diagnosis Sex Age at diagnosis (yrs) Fusion gene 1 (exon breakpoint) Fusion gene 2 (exon breakpoint) Immunophenotype Karyotype Tier 1/2 variants from targeted NGS (VAF, %)* Total follow-up period/relapse/death (months)
1 T-ALL F 26 SET (7) NUP214 (18) CD34, CD3, HLA-DR, CD7, CD13, CD33, CD79a Uninterpretable result WT1 c.1372C>T (40.0), TP53 c.560-27_560delinsTAGA (23.7), TP53 c.844C>T (42.7), EZH2 c.1707_1708insGCGTTTCG (15.0) 9/ 6/ 9
2 AML M 12 SET (7) NUP214 (18) CD117, CD34, CD11c, CD11b, HLA-DR, CD33, CD7 46,XY [20] PHF6 c.902_903delinsTTATTTGTT (18.0), PHF6 exon 9 deletion (NA) 37/ -/ -
3 AUL F 31 SET (7) NUP214 (18) CD117, CD34, CD38, CD7, CD33 46,XX [20] WT1 c.1384del (43.8), PHF6 c.834+1G>C (40.1), GNB1 c.229G>A (43.4), EED c.676_677insCCAG (41.2) 19/ -/ -
4 T-ALL F 11 SET (7) NUP214 (18) CD38, CD7, CD33, CD34, CD5, cCD3 46,XX,del(1)(p36.2) [18] NOTCH1 c.6943C>T (47.3), SUZ12 c.814G>T (51.9), DNM2 c.1153C>T (46.7), IL7R c.711_729delinsAAGATGCGTT (43.6), PHF6 c.681_682insGAGAC (45.3) 4/ -/ -
5 AML M 69 DEK (9) NUP214 (18) CD117, CD34, cMPO, CD38, HLA-DR, CD33, CD13 46,XY,t(6;9)(p22;q34) [20] FLT3-ITD (NA), NRAS c.35G>A (14.8) 13/ -/ -
6 AML F 76 DEK (8) NUP214 (18) CD117, CD34, cMPO, CD7, CD11c, HLA-DR, CD33, CD13 46,XX,t(6;9)(p22;q34)[20] FLT3-ITD (NA) 4/ -/ 4
7 AML F 59 DEK (9) NUP214 (18) Not done 46,XX,t(6;9)(p22;q34)[16]/46,XX [4] FLT3-ITD (NA), KDM6A c.3490_3494dup (12.1) 32/ -/ -
8 AMKL M 3 NUP214 (34) ABL1 (2) CD34, CD7, CD33, CD13, CD117 46,XY,der(13;21)(q10;q10)c,der(18)t(1;18)(q12;q22),+21c [24] BRCA2 c.8912del (49.3), GATA1 c.137_164del (14.7), EGLN1 c.2T>G (4.9) 74/ 21/ -
9 T-ALL M 9 NUP214 (32) ABL1 (2) CD38, CD7, CD8, CD4, CD5, CD1a, cCD3 46,XY [20] DNM2 c.1609G>A (49.8), CTCF c.1369C>T (49.3), NOTCH1 c.7327_7328insGG (43.4), NOTCH1 c.4775T>C (47.5), PHF6 c.507_508insGT (94.1), CDKN2A whole-gene deletion, CDKN2B whole-gene deletion, EZH2 whole-gene deletion, RB1 whole-gene deletion 9/ -/ -
10 T-ALL F 12 NUP214 (32) ABL1 (2) CD117, CD34, CD7, CD33, CD4, cCD3 46,XX [22] WT1 c.366dup (11.1), WT1 c.1156_1157insGGCGGACCGGT (63.6), PHF6 c.720T>G (16.9), PHF6 c.720T>G (44.1), FBXW7 c.1513C>T (15.1), NRAS c.34G>C (14.4), NOTCH1 c.4754T>C (14.3), DNM2 c.1948G>T (37.5) 25/ 22/ -
11 AML F 72 NUP214 (29) ABL1 (2) CD117, CD34, CD7, CD33, CD4, cCD3 45–47,XX,-2,-3,der(3)t(3;?)(p21;?),-5,?der(5)t(5;?)(q12;?),-7,der(7)t(7;?)(?p21;?),+8,+?der(16)t(16;?)(q12-13;?),-18,-19,-19,+20,+3–5mar[cp20a/46,XX [1] TP53 c.524G>A (45.1), TP53 c.613T>G (46.8), IDH2 c.515G>A (24.5), RAD50 c.3883C>T (7.5), DDX41 whole-gene deletion, NPM1 whole-gene deletion, RAD50 whole-gene deletion 1/ -/ -

*Reference transcripts were as follows: NM_024426.4 for WT1, NM_000546.5 for TP53, NM_004456.4 for EZH2, NM_001015877.1 for PHF6, NM_001282539.1 for GNB1, NM_003797.3 for EED, NM_017617.5 for NOTCH1, NM_015355.4 for SUZ12, NM_001005360.3 for DNM2, NM_002185.5 for IL7R, NM_002524.5 for NRAS, NM_021140.4 for KDM6A, NM_000059.3 for BRCA2, NM_002049.3 for GATA1, NM_022051.2 for EGLN1, NM_006565.3 for CTCF, NM_033632.3 for FBXW7, NM_002168.4 for IDH2, NM_005732.4 for RAD50.

Positive expression of CD34 and CD117 in leukemic blasts was confirmed via immunohistochemistry.

This was a germline pathogenic mutation.

Abbreviations: NGS, next-generation sequencing; T-ALL, T-cell acute lymphoblastic leukemia; AML, acute myeloid leukemia; AUL, acute undifferentiated leukemia; AMKL, acute megakaryocytic leukemia; VAF, variant allele frequency; ITD, internal tandem duplication; NA, not available.

Ann Lab Med 2024;44:335~342 https://doi.org/10.3343/alm.2023.0301

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