Molecular cytogenetic and CEBP mutational analysis of cases with CEBP/IGH translocations
| Patient no. . | Age, y/sex . | WBC, × 109/L . | OS, mo . | Karyotype* . | IGH FISH (%)† . | CEBP FISH (%)† . | Breakpoint‡ . | CEBP expression/mutation (%) . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CEBPA patients (CEBPA chr19:38, 485,160-38,482,776‡) | ||||||||||||||||
| A1 | 10/M | 1 | 111+ | 46,XY,t(14;19)(q32;q13)[8]§ | 1R1G1F (93) | 1R1G1F (56) | ||||||||||
| A2 | 11/F | 6 | 62+ | 46,XX,t(14;19)(q32;q13)[4]/46,idem,add(20)(p13)[3]§ | 1R1G1F (87) | 1R1G1F (59) | 3′ UTR of CEBPA chr19:38,483,001 | CEBPA (170) | ||||||||
| A3 | 28/F | 7 | 6 | 46,XX,t(14;19)(q32;q13),add(15)(q26)[5]/46,idem,del(X)(q2?)[2]§ | 1R1G1F (76) | 1R1G1F (72) | ||||||||||
| A4 | 19/F | 4 | 51+ | 46,XX,t(14;19)(q32;q13)[9]§§ | 0R1G2F (60) | 1R1G1F (72) | Not cloned (breakpoint in IGHV region) | CEBPA (2790) | ||||||||
| A5 | 44/F | 5 | 20+ | 57,XX,+X,+X,+4,+6,+10,+14,t(14;19)(q32;q13), ins(15)(q15),+17,+18,+21,+21,+mar[3]/57,idem,−17,+22[2] | 1R1G1F (82) | 1R1G1F (80) | CEBPG mutations Q7Stop/P36S | |||||||||
| A6 | 12/F | 71 | 20+ | 46,XX,dup(3)(q21q2?7),t(14;19)(q32;q13)[6]/46,XX,add(5)(q35),t(14;19) (q32;q13)[3] | 1R1G1F (97) | 1R1G1F (92) | 31 kb centromeric of CEBPA chr19:38,451,468 | CEBPA (40) | ||||||||
| A7 | 40/M | 5 | 12 | 46,XY,t(14;19)(q32;q13)[12]/46,idem,idic(8)(p11)[6] | 1R1G1F (76) | 1R1G1F (66) | CEBPA (60) | |||||||||
| A8 | 32/F | 17 | 84+ | 47,XX,+2,t(14;19)(q32;q13)[20] | 1R1G1F (77) | 1R1G1F (87) | 3′ UTR of CEBPA chr19:38,482,997 | |||||||||
| A9 | 15/F | 1 | 1 | 46,XX,der(9)t(9;?)(p24;?),t(14;19)(q32;q13)[20] | No material | No material | 3′ UTR of CEBPA chr19:38,482,996 | CEBPA (20) | ||||||||
| CEBPG patient (CEBPG chr19:38,556,448-38, 565,431) | ||||||||||||||||
| G1 | 38/F | 94 | < 1 | 46,XX,t(9;22)(q34;q11)[9]/46,idem,i(7)(p10)[2]/47,idem,+8,t(14;19)(q32;q13)[8]/48,idem,+6,+8,t(8;9)(q?;q11), t(14;19)(q32;q13),+der(22)t(9;22)∥ | 1R1G1F (70) | 1R1G1F (100)¶ | 52 kb centromeric of CEBPG chr19:38,504,319 | |||||||||
| CEBPD patients (CEBPD chr8:48,240,783-48, 242,619) | ||||||||||||||||
| D1 | 3/F | 19 | 138+ | 46,XX,t(8;14)(q11.2;q32),t(9;22)(q34;q11)[9]# | No material | No material | 37 kb centromeric of CEBPD chr8:48,775,440 | |||||||||
| D2 | 5/M | 3 | 41+ | 47,XY,t(8;14)(q11;q32),+21c[5] | 1R1G1F (37) | 1R1G1F (54) | 39 kb centromeric of CEBPD chr8:48,773,480 | |||||||||
| D3 | 9/M | 6 | NK | 46,XY,t(8;14)(q11;q32),del(18)(p11.2p11.3), der(19)t(8;19)(?;p13)[9]# | 1R1G1F (72) | 1R1G1F (72) | ||||||||||
| D4 | 15/F | 5 | 32 | 46,XX,t(8;14)(q11;q32)[2] | 1R1G1F (77) | 1R1G1F (82) | ||||||||||
| D5 | 8/M | 48 | NK | 47,XY,+4,t(8;14)(q11;q32)[7] | 1R1G1F (95) | 1R1G1F (85) | ||||||||||
| D6 | 15/F | 5 | 29+ | 47,XX,t(8;14)(q11;q32),+21c[29] | 1R1G1F (82) | 1R1G1F (97) | 36 kb centromeric of CEBPD chr8:48,775,934 | |||||||||
| D7 | 13/M | 8 | 120+ | 47,XY,t(8;14)(q11;q32),+21[11] | 1R1G1F (95) | 1R1G1F (80) | 42 kb centromeric of CEBPD chr8:48,769,988 | |||||||||
| D8 | 49/F | N/A | 1+ | 46,X,t(X;4)(q26;p16),t(8;14)(q11;q32)[10] | 1R1G1F (91) | 1R1G1F (96) | 18 kb centromeric of CEBPD chr8:48,794,358 | |||||||||
| D9 | 24/F | 140 | 6 | 46,XX,t(8;14)(q11.2;q32)[29]** | No material | No material | 61 kb centromeric of CEBPD chr8:48,751,074 | CEBPD (826) | ||||||||
| D10 | 20/M | 2 | 1+ | 45,X,−Y,t(2;14;8)(p11;q32;q11)[9] | 1R1G1F (75) 1Gk(2p11) | 1R1G1F (90) | CEBPD (2818) 1R1G1F (91) | |||||||||
| CEBPE patients (CEBPE chr14:22, 658,314-22,656,354) | ||||||||||||||||
| E1 | 45/M | 1 | 48+ | 45,XY,dup(5)(q14q21),−7,t(14;14)(q11;q32)[17] | 2R1G0F (72) | 1R1G1F (89) | 1.1 kb centromeric of CEBPE chr14:22,655,292 | CEBPE (50) | ||||||||
| E2 | 15/M | 39 | NK | 47, XY,inv(14)(q11q32),+21c | 1R1G1F (94) | 1R1G1F (92) | 0.8 kb telomeric of CEBPE chr14:22,659,084 | |||||||||
| E3 | 25/M | N/A | NK | 46,XY,inv(9)(p21q11),inv(14)(q11q32)[3]/6,idem,del(12)(p11p12)[3] | 1R1G1F (30) | 1R1G1F (58) | 0.8 kb telomeric of CEBPE chr14:22,659,097 | CEBPE (10) CEBPE mutation L155M | ||||||||
| E4 | 45/M | 24 | 19+ | 46,XY,der(2)t(1;2)(q1?;q3?7),inv(14)(q11q32),inc[3] | 1R1G1F (53) | 1R1G1F (57) | ||||||||||
| CEBPB patients (CEBPB chr20:48, 240,783-48,242,619) | ||||||||||||||||
| B1 | 15/M | 3 | 87+ | 46,XY,inv(9)(p1?3q3?2),t(14;20)(q32;q13)[14] | 1R1G1F (83) | 1R1G1F (88) | 1.3 kb centromeric of CEBPB chr20:48,239,531 | CEBPB (1490) | ||||||||
| B2 | 13/F | 103 | 42+ | 47,XX,t(14;20)(q32;q13),add(21)(p1?),+add(21)(p1?)[9] | 1R1G1F (77) | 1R1G1F (85) | 1.3 kb centromeric of CEBPB chr20:48,239,523 | CEBPB (31) | ||||||||
| B3 | 35/F | 75 | 7+ | 46,XX,i(7)(q10)[47].ish t(14;20)(q32;q13)(IGH cen+, IGHV−;IGH cen−,IGHV+)[3] | 1R1G1F (85) | 1R1G1F (72) | ||||||||||
| Patient no. . | Age, y/sex . | WBC, × 109/L . | OS, mo . | Karyotype* . | IGH FISH (%)† . | CEBP FISH (%)† . | Breakpoint‡ . | CEBP expression/mutation (%) . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CEBPA patients (CEBPA chr19:38, 485,160-38,482,776‡) | ||||||||||||||||
| A1 | 10/M | 1 | 111+ | 46,XY,t(14;19)(q32;q13)[8]§ | 1R1G1F (93) | 1R1G1F (56) | ||||||||||
| A2 | 11/F | 6 | 62+ | 46,XX,t(14;19)(q32;q13)[4]/46,idem,add(20)(p13)[3]§ | 1R1G1F (87) | 1R1G1F (59) | 3′ UTR of CEBPA chr19:38,483,001 | CEBPA (170) | ||||||||
| A3 | 28/F | 7 | 6 | 46,XX,t(14;19)(q32;q13),add(15)(q26)[5]/46,idem,del(X)(q2?)[2]§ | 1R1G1F (76) | 1R1G1F (72) | ||||||||||
| A4 | 19/F | 4 | 51+ | 46,XX,t(14;19)(q32;q13)[9]§§ | 0R1G2F (60) | 1R1G1F (72) | Not cloned (breakpoint in IGHV region) | CEBPA (2790) | ||||||||
| A5 | 44/F | 5 | 20+ | 57,XX,+X,+X,+4,+6,+10,+14,t(14;19)(q32;q13), ins(15)(q15),+17,+18,+21,+21,+mar[3]/57,idem,−17,+22[2] | 1R1G1F (82) | 1R1G1F (80) | CEBPG mutations Q7Stop/P36S | |||||||||
| A6 | 12/F | 71 | 20+ | 46,XX,dup(3)(q21q2?7),t(14;19)(q32;q13)[6]/46,XX,add(5)(q35),t(14;19) (q32;q13)[3] | 1R1G1F (97) | 1R1G1F (92) | 31 kb centromeric of CEBPA chr19:38,451,468 | CEBPA (40) | ||||||||
| A7 | 40/M | 5 | 12 | 46,XY,t(14;19)(q32;q13)[12]/46,idem,idic(8)(p11)[6] | 1R1G1F (76) | 1R1G1F (66) | CEBPA (60) | |||||||||
| A8 | 32/F | 17 | 84+ | 47,XX,+2,t(14;19)(q32;q13)[20] | 1R1G1F (77) | 1R1G1F (87) | 3′ UTR of CEBPA chr19:38,482,997 | |||||||||
| A9 | 15/F | 1 | 1 | 46,XX,der(9)t(9;?)(p24;?),t(14;19)(q32;q13)[20] | No material | No material | 3′ UTR of CEBPA chr19:38,482,996 | CEBPA (20) | ||||||||
| CEBPG patient (CEBPG chr19:38,556,448-38, 565,431) | ||||||||||||||||
| G1 | 38/F | 94 | < 1 | 46,XX,t(9;22)(q34;q11)[9]/46,idem,i(7)(p10)[2]/47,idem,+8,t(14;19)(q32;q13)[8]/48,idem,+6,+8,t(8;9)(q?;q11), t(14;19)(q32;q13),+der(22)t(9;22)∥ | 1R1G1F (70) | 1R1G1F (100)¶ | 52 kb centromeric of CEBPG chr19:38,504,319 | |||||||||
| CEBPD patients (CEBPD chr8:48,240,783-48, 242,619) | ||||||||||||||||
| D1 | 3/F | 19 | 138+ | 46,XX,t(8;14)(q11.2;q32),t(9;22)(q34;q11)[9]# | No material | No material | 37 kb centromeric of CEBPD chr8:48,775,440 | |||||||||
| D2 | 5/M | 3 | 41+ | 47,XY,t(8;14)(q11;q32),+21c[5] | 1R1G1F (37) | 1R1G1F (54) | 39 kb centromeric of CEBPD chr8:48,773,480 | |||||||||
| D3 | 9/M | 6 | NK | 46,XY,t(8;14)(q11;q32),del(18)(p11.2p11.3), der(19)t(8;19)(?;p13)[9]# | 1R1G1F (72) | 1R1G1F (72) | ||||||||||
| D4 | 15/F | 5 | 32 | 46,XX,t(8;14)(q11;q32)[2] | 1R1G1F (77) | 1R1G1F (82) | ||||||||||
| D5 | 8/M | 48 | NK | 47,XY,+4,t(8;14)(q11;q32)[7] | 1R1G1F (95) | 1R1G1F (85) | ||||||||||
| D6 | 15/F | 5 | 29+ | 47,XX,t(8;14)(q11;q32),+21c[29] | 1R1G1F (82) | 1R1G1F (97) | 36 kb centromeric of CEBPD chr8:48,775,934 | |||||||||
| D7 | 13/M | 8 | 120+ | 47,XY,t(8;14)(q11;q32),+21[11] | 1R1G1F (95) | 1R1G1F (80) | 42 kb centromeric of CEBPD chr8:48,769,988 | |||||||||
| D8 | 49/F | N/A | 1+ | 46,X,t(X;4)(q26;p16),t(8;14)(q11;q32)[10] | 1R1G1F (91) | 1R1G1F (96) | 18 kb centromeric of CEBPD chr8:48,794,358 | |||||||||
| D9 | 24/F | 140 | 6 | 46,XX,t(8;14)(q11.2;q32)[29]** | No material | No material | 61 kb centromeric of CEBPD chr8:48,751,074 | CEBPD (826) | ||||||||
| D10 | 20/M | 2 | 1+ | 45,X,−Y,t(2;14;8)(p11;q32;q11)[9] | 1R1G1F (75) 1Gk(2p11) | 1R1G1F (90) | CEBPD (2818) 1R1G1F (91) | |||||||||
| CEBPE patients (CEBPE chr14:22, 658,314-22,656,354) | ||||||||||||||||
| E1 | 45/M | 1 | 48+ | 45,XY,dup(5)(q14q21),−7,t(14;14)(q11;q32)[17] | 2R1G0F (72) | 1R1G1F (89) | 1.1 kb centromeric of CEBPE chr14:22,655,292 | CEBPE (50) | ||||||||
| E2 | 15/M | 39 | NK | 47, XY,inv(14)(q11q32),+21c | 1R1G1F (94) | 1R1G1F (92) | 0.8 kb telomeric of CEBPE chr14:22,659,084 | |||||||||
| E3 | 25/M | N/A | NK | 46,XY,inv(9)(p21q11),inv(14)(q11q32)[3]/6,idem,del(12)(p11p12)[3] | 1R1G1F (30) | 1R1G1F (58) | 0.8 kb telomeric of CEBPE chr14:22,659,097 | CEBPE (10) CEBPE mutation L155M | ||||||||
| E4 | 45/M | 24 | 19+ | 46,XY,der(2)t(1;2)(q1?;q3?7),inv(14)(q11q32),inc[3] | 1R1G1F (53) | 1R1G1F (57) | ||||||||||
| CEBPB patients (CEBPB chr20:48, 240,783-48,242,619) | ||||||||||||||||
| B1 | 15/M | 3 | 87+ | 46,XY,inv(9)(p1?3q3?2),t(14;20)(q32;q13)[14] | 1R1G1F (83) | 1R1G1F (88) | 1.3 kb centromeric of CEBPB chr20:48,239,531 | CEBPB (1490) | ||||||||
| B2 | 13/F | 103 | 42+ | 47,XX,t(14;20)(q32;q13),add(21)(p1?),+add(21)(p1?)[9] | 1R1G1F (77) | 1R1G1F (85) | 1.3 kb centromeric of CEBPB chr20:48,239,523 | CEBPB (31) | ||||||||
| B3 | 35/F | 75 | 7+ | 46,XX,i(7)(q10)[47].ish t(14;20)(q32;q13)(IGH cen+, IGHV−;IGH cen−,IGHV+)[3] | 1R1G1F (85) | 1R1G1F (72) | ||||||||||
Deceased patients are indicated by italics.
R indicates red signal; G, green signal; F, fusion signal; and NK, not known.
Karyotypes written according to ISCN (2005).49 The normal clone has been omitted from abnormal karyotypes.
Only predominant aberrant signal pattern is shown.
BLAT search results using May 2004 freeze. Chromosome is given first, followed by position.
Previously reported.36
previously reported.50
In metaphase nuclei, FISH and molecular cloning discriminated CEBPG from CEBPA in this case. In patient B3, no 14q32 translocation was seen by cytogenetics but FISH detected an IGH breakpoint. Verification of t(14;20)(q32;q13) was obtained by further FISH experiments in metaphase and interphase preparations. CEBP expression was determined by QRT-PCR and is expressed relative to levels of expression seen in the myeloid cell line HL-60.
Previously reported.37
**Previously reported.38