120
edits
Changes
Jump to navigation
Jump to search
B-ALL Tables: Prognostic Genomic Abnormalities and Recurrent Gene Fusions (view source)
Revision as of 12:26, 22 July 2021
, 12:26, 22 July 2021Added initial table
'''Table 1 - Gene fusions reported in Ph-like B-ALL and other new B-ALL molecular subtypes (Literature Review)'''. Table derived from Akkari et al., 2020 [PMID 32302940] with permission from Cancer Genetics.
{| class="wikitable"
|'''Subtype'''
|'''3’ Partner'''
|'''5’ Partner'''
|'''Chromosome rearrangement'''
|'''Gene fusion'''
|'''Visible by G-banding'''
|'''PMID'''
|'''Comment'''
|-
| rowspan="63" |'''Ph-like'''
'''B-ALL'''
| rowspan="12" |'''''ABL1''''' (9q34)
|''CENPC1''
|t(4;9)(q13;q34)
|''CENPC1-ABL1''
|YES
|28408464
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
|''ETV6''
|t(9;12)(q34;p13)
|''ETV6-ABL1''
|NO
|27229714
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
|''FOXP1''
|t(3;9)(p13;q34)
|''FOXP1-ABL1'' on der(3)
|YES
|21391972
|
|-
|''LSM14A''
|t(9;19)(q34;q13.1)
|''LSM14A-ABL1'' on der(19)
|YES
|28408464
|
|-
|''NUP153''
|t(6;9)(p22.3;q34)
|''NUP153-ABL1'' on der(6)
|YES
|28408464
|
|-
|''NUP214''
|dup(9)(q34.1q34.1)
|''NUP214-ABL1''
|NO
|26681761
|Tandem duplication (~370 kb) detectable by CMA
|-
|''RANBP2''
|t(2;9)(q12.3;q34)
|''RANBP-ABL1'' on der(2)
|YES
|25207766
|
|-
|''RCSD1''
|t(1;9)(q24.2;q34)
|''RCSD1-ABL1'' on der(1)
|YES
|25768406
|
|-
|''SFPQ''
|t(1;9)(p34.3;q34)
|''SFPQ-ABL1'' on der(1)
|YES
|27894117
|
|-
|''SNX1''
|t(9;15)(q34;q22.3)
|''SNX1-ABL1'' on der(15)
|YES
|28972016
|
|-
|''SNX2''
|t(5;9)(q23.2;q34)
|''SNX2-ABL1'' on der(5)
|YES
|24367893
|
|-
|''ZMIZ1''
|t(9;10)(q34;q22.3)
|''ZMIZ1-ABL1'' on der(10)
|YES
|18007576
|
|-
| rowspan="3" |'''''ABL2''''' (1q25.2)
|''PAG1''
|t(1;8)(q25.2;q21.1)
|''PAG1-ABL2'' on der(1)
|YES
|25207766
|
|-
|''RCSD1''
|1q24.2q25.2 rearrangement
|''RCSD1-ABL2''
|NO
|25098428
|On the same chromosome arm; however, a simple deletion cannot cause the fusion due to the orientation of genes
|-
|''ZC3HAV1''
|t(1;7)(q25.2;q34)
|''ZC3HAV1-ABL2'' on der(1)
|YES
|29507076
|
|-
| rowspan="2" |'''''CRLF2'''''
(Xp22.3 & Yp11.3)
|''IGH''
|t(X;14)(p22.3;q32) or
t(Y;14)(p11.3;q32)
|''IGH/CRLF2''
|NO
|27919910 25207766
|
|-
|''P2RY8''
|del(X)(p22.3p22.3) or del(Y)(p11.3p11.3)
|''P2RY8-CRLF2''
|NO
|27919910 25207766
|
|-
| rowspan="3" |'''''CSF1R''''' (5q32)
|''MEF2D''
|t(1;5)(q22;q32)
|''MEF2D-CSF1R'' on der(5)
|YES
|27824051
|
|-
|''SSBP2''
|5q14.1q32 rearrangement
|''SSBP2-CSF1R''
|YES
|28408464
|On the same chromosome arm; however, a simple deletion cannot cause the fusion due to the orientation of genes
|-
|''TBL1XR1''
|t(3;5)(q26.3;q32)
|''TBL1XR1-CSF1R'' on der(5)
|YES
|28408464
|
|-
|'''''DGKH''''' (13q14.1)
|''ZFAND3''
|t(6;13)(p21.2;q14.1)
|''ZFAND3-DGKH''
|YES
|25207766
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
| rowspan="4" |'''''EPOR''''' (19p13.2)
|''IGH''
|ins(14;19)(q32;p13.2p13.2)
|''IGH/EPOR''
|Cryptic insertion
|26859458
|
|-
|''IGK''
|ins(2;19)(p11.2;p13.2p13.2)
|''IGK/EPOR''
|Cryptic insertion
|26859458
|
|-
|''LAIR1''
|inv(19)(p13.2q13.42)
|''LAIR1-EPOR''
|NO
|26859458
|Inversion of chromosome 19 juxtaposes ''EPOR'' to the upstream region of ''LAIR1''
|-
|''THADA''
|t(2;19)(p21;p13.2)
|''THADA-EPOR''
|YES
|28972016
|
|-
|'''''IL2RB''''' (22q12.3)
|''MYH9''
|22q12.3 rearrangement
|''MYH9-IL2RB''
|NO
|25207766
|On the same chromosome arm; however, a simple deletion cannot cause the fusion due to the orientation of genes
|-
| rowspan="22" |'''''JAK2''''' (9p24.1)
|''ATF7IP''
|t(9;12)(p24.1;p13.1)
|''ATF7IP-JAK2'' on der(9)
|NO
|25207766 29487712
|
|-
|''BCR''
|t(9;22)(p24.1;q11.2)
|''BCR-JAK2''
|? YES
|16001431
|Seen also in myeloproliferative neoplasms. Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
|''EBF1''
|t(5;9)(q33.3;p24.1)
|''EBF1-JAK2'' on der(9)
|NO (SUBTLE)
|29296813
|
|-
|''ETV6''
|t(9;12)(p24.1;p13.2)
|''ETV6-JAK2'' on der(9)
|NO (SUBTLE)
|22373549
23204479
|
|-
|''GOLGA5''
|t(9;14)(p24.1;q32.1)
|''GOLGA5-JAK2''
|NO (SUBTLE)
|29773603
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
|''HMBOX1''
|t(8;9)(p21.1;p24.1)
|''HMBOX1-JAK2'' on der(9)
|YES
|27870571
|
|-
|''OFD1''
|t(X;9)(p22.2;p24.1)
|''OFD1-JAK2'' on der(9)
|NO (SUBTLE)
|26404892
|
|-
|''PAX5''
|inv(9)(p13.2p24.1)
|''PAX5-JAK2''
|YES
|25515960
|An inversion is required as genes are oriented in opposite directions
|-
|''PCM1''
|t(8;9)(p22;p24.1)
|''PCM1-JAK2'' on der(9)
|YES (SUBTLE)
|28972016
|Seen also in myeloid/lymphoid neoplasms with eosinophilia
|-
|''PPFIBP1''
|t(9;12)(p24.1;p11.2)
|''PPFIBP1-JAK2'' on der(9)
|YES
|28972016
|
|-
|''RFX3''
|inv(9)(p24.1p24.2)
|''RFX3-JAK2''
|NO
|28408464
|An inversion is required as genes are oriented in opposite directions
|-
|''SMU1''
|inv(9)(p21.1p24.1)
|''SMU1-JAK2''
|NO
|27870571
|An inversion is required as genes are oriented in opposite directions
|-
|''SNX29''
|t(9;16)(p24.1;p13.1)
|''SNX29-JAK2'' on der(9)
|YES
|27870571
|
|-
|''SPAG9''
|t(9;17)(p24.1;q21.3)
|''SPAG9-JAK2'' on der(9)
|YES
|25951811
|
|-
|''SSBP2''
|t(5;9)(q14.1;p24.1)
|''SSBP2-JAK2'' on der(9)
|YES
|18618714
|
|-
|''STRN3''
|t(9;14)(p24.1;q12)
|''STRN3-JAK2'' on der(9)
|YES
|22897847
|
|-
|''TERF2''
|t(9;16)(p24.1;q22.1)
|''TERF2-JAK2'' on der(9)
|YES
|29163799
|
|-
|''TPR''
|t(1;9)(q31.1;p24.1)
|''TPR-JAK2'' on der(9)
|YES
|25207766
|
|-
|''USP25''
|t(9;21)(p24.1;q21.1)
|''USP25-JAK2''
|? YES
|28408464
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
|''ZBTB46''
|t(9;20)(p24.1;q13.3)
|''ZBTB46-JAK2'' on der(9)
|NO
|28972016
|
|-
|''ZNF274''
|t(9;19)(p24.1;q13.4)
|''ZNF274-JAK2''
|NO
|28408464
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
|''ZNF340''
|t(9;20)(p24.1;q13.3)
|''ZNF340-JAK2'' on der(9)
|NO
|28972016
|
|-
|'''''PDGFRA'''''
(4q12)
|''FIP1L1''
|del(4)(q12q12)
|''FIP1L1-PDGFRA''
|NO
|27870571
|Interstitial deletion. Seen also in myeloid/lymphoid neoplasms with eosinophilia
|-
| rowspan="8" |'''''PDGFRB''''' (5q32)
|''ATF7IP''
|t(5;12)(q32;p13.1)
|''ATF7IP-PDGFRB'' on der(5)
|YES
|24628626
26703895 29133777
|
|-
|''EBF1''
|del(5)(q32q33.3)
|''EBF1-PDGFRB''
|NO
|26872634
|Interstitial deletion
|-
|''ETV6''
|t(5;12)(q32;p13.2)
|''ETV6-PDGFRB'' on der(5)
|YES
|28972016
|
|-
|''SNX29''
|t(5;16)(q32;p13.1)
|''SNX29-PDGFRB'' on der(5)
|YES
|28972016
|
|-
|''SSBP2''
|t(5;5)(q14.1;q32)
|''SSBP2-PDGFRB''
|? YES
|28972016
|On the same chromosome arm; however, a simple deletion cannot cause the fusion due to the orientation of genes
|-
|''TNIP1''
|del(5)(q32q33.1)
|''TNIP1-PDGFRB''
|NO
|28972016
|Interstitial deletion. Seen also in myeloid/lymphoid neoplasms with eosinophilia
|-
|''ZEB2''
|t(2;5)(q22.3;q32)
|''ZEB2-PDGFRB'' on der(5)
|YES
|25207766
|
|-
|''ZMYND8''
|t(5;20)(q32;q13.1)
|''ZMYND8-PDGFRB'' on der(5)
|YES
|28408464
|
|-
| rowspan="3" |'''''PTK2B''''' (8p21.2)
|''KDM6A''
|t(X;8)(p11.3;p21.2)
|''KDM6A-PTK2B'' on der(8)
|YES
|25207766
|
|-
|''STAG2''
|t(X;8)(q25;p21.2)
|''STAG2-PTK2B''
|YES
|25207766
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
|''TMEM2''
|t(8;9)(p21.2;q21.1)
|''TMEM2-PTK2B'' on der(8)
|YES
|28972016
|
|-
| rowspan="3" |'''''TYK2''''' (19p13.2)
|''MYB''
|t(6;19)(q23.3;p13.2)
|''MYB-TYK2'' on der(6)
|YES
|29296813
|
|-
|''SMARCA4''
|inv(19)(p13.2p13.2)
|''SMARCA4-TYK2''
|NO
|28972016
|
|-
|''ZNF340''
|t(19;20)(p13.2;q13.3)
|''ZNF340-TYK2''
|NO
|28972016
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
| rowspan="9" |'''''ZNF384-''rearranged B-ALL'''
| rowspan="9" |'''''ZNF384''''' (12p13.3) '' ''
|''ARID1B''
|t(6;12)(q25.3;p13.3)
|''ARID1B-ZNF384'' on der(6)
|YES (subtle)
|27392123
|
|-
|''BMP2K''
|t(4;12)(q21.2;p13.3)
|''BMP2K-ZNF384'' on der(4)
|YES
|27634205
|
|-
|''CREBBP''
|t(12;16)(p13.3;p13.3)
|''CREBBP-ZNF384'' on der(16)
|NO
|27428428 27634205
|
|-
|''EP300''
|t(12;22)(p13.3;q13.2)
|''EP300-ZNF384'' on der(22)
|NO
|25943178
|
|-
|''EWSR1''
|t(12;22)(p13.3;q12.2)
|''EWSR1-ZNF384'' on der(22)
|YES (subtle)
|12359745
|
|-
|''SMARCA2''
|t(9;12)(p24.3;p13.3)
|''SMARCA2-ZNF384''
|No
|27824051
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
|''SYNRG''
|t(12;17)(p13.3;q12)
|''SYNGR-ZNF384''
|YES
|27634205
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
|''TAF15''
|t(12;17)(p13.3;q12)
|''TAF15-ZNF384'' on der(17)
|YES
|21504714
|
|-
|''TCF3''
|t(12;19)(p13.3;p13.3)
|''TCF3-ZNF384'' on der(19)
|NO
|27634205
|
|-
| rowspan="6" |'''''MEF2D-''rearranged B-ALL'''
|''BCL9''
| rowspan="6" |'''''MEF2D''''' (1q22)
|inv(1)(q21.2q22)
|''MEF2D-BCL9''
|No
|27507882 27824051 27428428
|
|-
|''CSF1R''
|t(1;5)(q22;q32)
|''MEF2D-CSF1R'' on der(5)
|YES
|27824051
|
|-
|''FOXJ2''
|t(1;12)(q22;p13.3)
|''MEF2D-FOXJ2'' on der(12)
|YES
|27824051
|
|-
|''HNRNPH1''
|t(1;5)(q22;q35.3)
|''MEF2D-HNRNPH1'' on der(5)
|YES
|27824051
|
|-
|''HNRNPUL1''
|t(1;19)(q22;q13.2)
|''MEF2D-HNRNPUL1''
|? YES
|30171027
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
|''SS18''
|t(1;18)(q22;q11.2)
|''MEF2D-SS18'' on der(18)
|YES
|27824051 27824051
|
|}
==Reference==
1. Xu X, Bryke C, Sukhanova M, Huxley E, Dash DP, Dixon-Mciver A, Fang M, Griepp PT, Hodge JC, Iqbal A, Jeffries S, Kanagal-Shamanna R, Quintero-Rivera F, Shetty S, Slovak ML, Yenamandra A, Lennon PA, Raca G. (2018). Assessing copy number abnormalities and copy-neutral loss-of-heterozygosity across the genome as best practice in diagnostic evaluation of acute myeloid leukemia: An evidence-based review from the cancer genomics consortium (CGC) myeloid neoplasms working group. Cancer Genet [Epub ahead of print], PMID 30344013.<references />
{| class="wikitable"
|'''Subtype'''
|'''3’ Partner'''
|'''5’ Partner'''
|'''Chromosome rearrangement'''
|'''Gene fusion'''
|'''Visible by G-banding'''
|'''PMID'''
|'''Comment'''
|-
| rowspan="63" |'''Ph-like'''
'''B-ALL'''
| rowspan="12" |'''''ABL1''''' (9q34)
|''CENPC1''
|t(4;9)(q13;q34)
|''CENPC1-ABL1''
|YES
|28408464
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
|''ETV6''
|t(9;12)(q34;p13)
|''ETV6-ABL1''
|NO
|27229714
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
|''FOXP1''
|t(3;9)(p13;q34)
|''FOXP1-ABL1'' on der(3)
|YES
|21391972
|
|-
|''LSM14A''
|t(9;19)(q34;q13.1)
|''LSM14A-ABL1'' on der(19)
|YES
|28408464
|
|-
|''NUP153''
|t(6;9)(p22.3;q34)
|''NUP153-ABL1'' on der(6)
|YES
|28408464
|
|-
|''NUP214''
|dup(9)(q34.1q34.1)
|''NUP214-ABL1''
|NO
|26681761
|Tandem duplication (~370 kb) detectable by CMA
|-
|''RANBP2''
|t(2;9)(q12.3;q34)
|''RANBP-ABL1'' on der(2)
|YES
|25207766
|
|-
|''RCSD1''
|t(1;9)(q24.2;q34)
|''RCSD1-ABL1'' on der(1)
|YES
|25768406
|
|-
|''SFPQ''
|t(1;9)(p34.3;q34)
|''SFPQ-ABL1'' on der(1)
|YES
|27894117
|
|-
|''SNX1''
|t(9;15)(q34;q22.3)
|''SNX1-ABL1'' on der(15)
|YES
|28972016
|
|-
|''SNX2''
|t(5;9)(q23.2;q34)
|''SNX2-ABL1'' on der(5)
|YES
|24367893
|
|-
|''ZMIZ1''
|t(9;10)(q34;q22.3)
|''ZMIZ1-ABL1'' on der(10)
|YES
|18007576
|
|-
| rowspan="3" |'''''ABL2''''' (1q25.2)
|''PAG1''
|t(1;8)(q25.2;q21.1)
|''PAG1-ABL2'' on der(1)
|YES
|25207766
|
|-
|''RCSD1''
|1q24.2q25.2 rearrangement
|''RCSD1-ABL2''
|NO
|25098428
|On the same chromosome arm; however, a simple deletion cannot cause the fusion due to the orientation of genes
|-
|''ZC3HAV1''
|t(1;7)(q25.2;q34)
|''ZC3HAV1-ABL2'' on der(1)
|YES
|29507076
|
|-
| rowspan="2" |'''''CRLF2'''''
(Xp22.3 & Yp11.3)
|''IGH''
|t(X;14)(p22.3;q32) or
t(Y;14)(p11.3;q32)
|''IGH/CRLF2''
|NO
|27919910 25207766
|
|-
|''P2RY8''
|del(X)(p22.3p22.3) or del(Y)(p11.3p11.3)
|''P2RY8-CRLF2''
|NO
|27919910 25207766
|
|-
| rowspan="3" |'''''CSF1R''''' (5q32)
|''MEF2D''
|t(1;5)(q22;q32)
|''MEF2D-CSF1R'' on der(5)
|YES
|27824051
|
|-
|''SSBP2''
|5q14.1q32 rearrangement
|''SSBP2-CSF1R''
|YES
|28408464
|On the same chromosome arm; however, a simple deletion cannot cause the fusion due to the orientation of genes
|-
|''TBL1XR1''
|t(3;5)(q26.3;q32)
|''TBL1XR1-CSF1R'' on der(5)
|YES
|28408464
|
|-
|'''''DGKH''''' (13q14.1)
|''ZFAND3''
|t(6;13)(p21.2;q14.1)
|''ZFAND3-DGKH''
|YES
|25207766
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
| rowspan="4" |'''''EPOR''''' (19p13.2)
|''IGH''
|ins(14;19)(q32;p13.2p13.2)
|''IGH/EPOR''
|Cryptic insertion
|26859458
|
|-
|''IGK''
|ins(2;19)(p11.2;p13.2p13.2)
|''IGK/EPOR''
|Cryptic insertion
|26859458
|
|-
|''LAIR1''
|inv(19)(p13.2q13.42)
|''LAIR1-EPOR''
|NO
|26859458
|Inversion of chromosome 19 juxtaposes ''EPOR'' to the upstream region of ''LAIR1''
|-
|''THADA''
|t(2;19)(p21;p13.2)
|''THADA-EPOR''
|YES
|28972016
|
|-
|'''''IL2RB''''' (22q12.3)
|''MYH9''
|22q12.3 rearrangement
|''MYH9-IL2RB''
|NO
|25207766
|On the same chromosome arm; however, a simple deletion cannot cause the fusion due to the orientation of genes
|-
| rowspan="22" |'''''JAK2''''' (9p24.1)
|''ATF7IP''
|t(9;12)(p24.1;p13.1)
|''ATF7IP-JAK2'' on der(9)
|NO
|25207766 29487712
|
|-
|''BCR''
|t(9;22)(p24.1;q11.2)
|''BCR-JAK2''
|? YES
|16001431
|Seen also in myeloproliferative neoplasms. Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
|''EBF1''
|t(5;9)(q33.3;p24.1)
|''EBF1-JAK2'' on der(9)
|NO (SUBTLE)
|29296813
|
|-
|''ETV6''
|t(9;12)(p24.1;p13.2)
|''ETV6-JAK2'' on der(9)
|NO (SUBTLE)
|22373549
23204479
|
|-
|''GOLGA5''
|t(9;14)(p24.1;q32.1)
|''GOLGA5-JAK2''
|NO (SUBTLE)
|29773603
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
|''HMBOX1''
|t(8;9)(p21.1;p24.1)
|''HMBOX1-JAK2'' on der(9)
|YES
|27870571
|
|-
|''OFD1''
|t(X;9)(p22.2;p24.1)
|''OFD1-JAK2'' on der(9)
|NO (SUBTLE)
|26404892
|
|-
|''PAX5''
|inv(9)(p13.2p24.1)
|''PAX5-JAK2''
|YES
|25515960
|An inversion is required as genes are oriented in opposite directions
|-
|''PCM1''
|t(8;9)(p22;p24.1)
|''PCM1-JAK2'' on der(9)
|YES (SUBTLE)
|28972016
|Seen also in myeloid/lymphoid neoplasms with eosinophilia
|-
|''PPFIBP1''
|t(9;12)(p24.1;p11.2)
|''PPFIBP1-JAK2'' on der(9)
|YES
|28972016
|
|-
|''RFX3''
|inv(9)(p24.1p24.2)
|''RFX3-JAK2''
|NO
|28408464
|An inversion is required as genes are oriented in opposite directions
|-
|''SMU1''
|inv(9)(p21.1p24.1)
|''SMU1-JAK2''
|NO
|27870571
|An inversion is required as genes are oriented in opposite directions
|-
|''SNX29''
|t(9;16)(p24.1;p13.1)
|''SNX29-JAK2'' on der(9)
|YES
|27870571
|
|-
|''SPAG9''
|t(9;17)(p24.1;q21.3)
|''SPAG9-JAK2'' on der(9)
|YES
|25951811
|
|-
|''SSBP2''
|t(5;9)(q14.1;p24.1)
|''SSBP2-JAK2'' on der(9)
|YES
|18618714
|
|-
|''STRN3''
|t(9;14)(p24.1;q12)
|''STRN3-JAK2'' on der(9)
|YES
|22897847
|
|-
|''TERF2''
|t(9;16)(p24.1;q22.1)
|''TERF2-JAK2'' on der(9)
|YES
|29163799
|
|-
|''TPR''
|t(1;9)(q31.1;p24.1)
|''TPR-JAK2'' on der(9)
|YES
|25207766
|
|-
|''USP25''
|t(9;21)(p24.1;q21.1)
|''USP25-JAK2''
|? YES
|28408464
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
|''ZBTB46''
|t(9;20)(p24.1;q13.3)
|''ZBTB46-JAK2'' on der(9)
|NO
|28972016
|
|-
|''ZNF274''
|t(9;19)(p24.1;q13.4)
|''ZNF274-JAK2''
|NO
|28408464
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
|''ZNF340''
|t(9;20)(p24.1;q13.3)
|''ZNF340-JAK2'' on der(9)
|NO
|28972016
|
|-
|'''''PDGFRA'''''
(4q12)
|''FIP1L1''
|del(4)(q12q12)
|''FIP1L1-PDGFRA''
|NO
|27870571
|Interstitial deletion. Seen also in myeloid/lymphoid neoplasms with eosinophilia
|-
| rowspan="8" |'''''PDGFRB''''' (5q32)
|''ATF7IP''
|t(5;12)(q32;p13.1)
|''ATF7IP-PDGFRB'' on der(5)
|YES
|24628626
26703895 29133777
|
|-
|''EBF1''
|del(5)(q32q33.3)
|''EBF1-PDGFRB''
|NO
|26872634
|Interstitial deletion
|-
|''ETV6''
|t(5;12)(q32;p13.2)
|''ETV6-PDGFRB'' on der(5)
|YES
|28972016
|
|-
|''SNX29''
|t(5;16)(q32;p13.1)
|''SNX29-PDGFRB'' on der(5)
|YES
|28972016
|
|-
|''SSBP2''
|t(5;5)(q14.1;q32)
|''SSBP2-PDGFRB''
|? YES
|28972016
|On the same chromosome arm; however, a simple deletion cannot cause the fusion due to the orientation of genes
|-
|''TNIP1''
|del(5)(q32q33.1)
|''TNIP1-PDGFRB''
|NO
|28972016
|Interstitial deletion. Seen also in myeloid/lymphoid neoplasms with eosinophilia
|-
|''ZEB2''
|t(2;5)(q22.3;q32)
|''ZEB2-PDGFRB'' on der(5)
|YES
|25207766
|
|-
|''ZMYND8''
|t(5;20)(q32;q13.1)
|''ZMYND8-PDGFRB'' on der(5)
|YES
|28408464
|
|-
| rowspan="3" |'''''PTK2B''''' (8p21.2)
|''KDM6A''
|t(X;8)(p11.3;p21.2)
|''KDM6A-PTK2B'' on der(8)
|YES
|25207766
|
|-
|''STAG2''
|t(X;8)(q25;p21.2)
|''STAG2-PTK2B''
|YES
|25207766
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
|''TMEM2''
|t(8;9)(p21.2;q21.1)
|''TMEM2-PTK2B'' on der(8)
|YES
|28972016
|
|-
| rowspan="3" |'''''TYK2''''' (19p13.2)
|''MYB''
|t(6;19)(q23.3;p13.2)
|''MYB-TYK2'' on der(6)
|YES
|29296813
|
|-
|''SMARCA4''
|inv(19)(p13.2p13.2)
|''SMARCA4-TYK2''
|NO
|28972016
|
|-
|''ZNF340''
|t(19;20)(p13.2;q13.3)
|''ZNF340-TYK2''
|NO
|28972016
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
| rowspan="9" |'''''ZNF384-''rearranged B-ALL'''
| rowspan="9" |'''''ZNF384''''' (12p13.3) '' ''
|''ARID1B''
|t(6;12)(q25.3;p13.3)
|''ARID1B-ZNF384'' on der(6)
|YES (subtle)
|27392123
|
|-
|''BMP2K''
|t(4;12)(q21.2;p13.3)
|''BMP2K-ZNF384'' on der(4)
|YES
|27634205
|
|-
|''CREBBP''
|t(12;16)(p13.3;p13.3)
|''CREBBP-ZNF384'' on der(16)
|NO
|27428428 27634205
|
|-
|''EP300''
|t(12;22)(p13.3;q13.2)
|''EP300-ZNF384'' on der(22)
|NO
|25943178
|
|-
|''EWSR1''
|t(12;22)(p13.3;q12.2)
|''EWSR1-ZNF384'' on der(22)
|YES (subtle)
|12359745
|
|-
|''SMARCA2''
|t(9;12)(p24.3;p13.3)
|''SMARCA2-ZNF384''
|No
|27824051
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
|''SYNRG''
|t(12;17)(p13.3;q12)
|''SYNGR-ZNF384''
|YES
|27634205
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
|''TAF15''
|t(12;17)(p13.3;q12)
|''TAF15-ZNF384'' on der(17)
|YES
|21504714
|
|-
|''TCF3''
|t(12;19)(p13.3;p13.3)
|''TCF3-ZNF384'' on der(19)
|NO
|27634205
|
|-
| rowspan="6" |'''''MEF2D-''rearranged B-ALL'''
|''BCL9''
| rowspan="6" |'''''MEF2D''''' (1q22)
|inv(1)(q21.2q22)
|''MEF2D-BCL9''
|No
|27507882 27824051 27428428
|
|-
|''CSF1R''
|t(1;5)(q22;q32)
|''MEF2D-CSF1R'' on der(5)
|YES
|27824051
|
|-
|''FOXJ2''
|t(1;12)(q22;p13.3)
|''MEF2D-FOXJ2'' on der(12)
|YES
|27824051
|
|-
|''HNRNPH1''
|t(1;5)(q22;q35.3)
|''MEF2D-HNRNPH1'' on der(5)
|YES
|27824051
|
|-
|''HNRNPUL1''
|t(1;19)(q22;q13.2)
|''MEF2D-HNRNPUL1''
|? YES
|30171027
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
|''SS18''
|t(1;18)(q22;q11.2)
|''MEF2D-SS18'' on der(18)
|YES
|27824051 27824051
|
|}
==Reference==
1. Xu X, Bryke C, Sukhanova M, Huxley E, Dash DP, Dixon-Mciver A, Fang M, Griepp PT, Hodge JC, Iqbal A, Jeffries S, Kanagal-Shamanna R, Quintero-Rivera F, Shetty S, Slovak ML, Yenamandra A, Lennon PA, Raca G. (2018). Assessing copy number abnormalities and copy-neutral loss-of-heterozygosity across the genome as best practice in diagnostic evaluation of acute myeloid leukemia: An evidence-based review from the cancer genomics consortium (CGC) myeloid neoplasms working group. Cancer Genet [Epub ahead of print], PMID 30344013.<references />