|
Sequence mutations
| |
|
15-63375
|
AML changed to JMML
|
PTPN11; SETB1
|
c.181G > T (p.D61Y); c.2602G > A (p.D868N)
|
Diagnostic [31, 46]
|
JMML
|
|
13-72282a
|
T-ALL
|
STAT5B
|
c.2110A > C (p.I704L)
|
Diagnostic [30, 47]
|
Gamma-delta T-cell lymphoma
|
|
15-26188
|
ALL
|
NT5C2
|
c.1219G > T (p.D407Y)
|
Pharmacogenomic [32, 33]
|
Affects therapy
|
|
13-45348
|
AML
|
IDH1
|
c.394C > T (p.R132C)
|
Diagnostic [48, 49]
|
Maffucci syndrome
|
|
14-53198
|
AML
|
CEBPA
|
c.939_940insAAG (p.K313_V314insK); c.326_327insC (p.P109fs)
|
Prognostic [50]
|
Improved prognosis
|
|
15-10838
|
Glioma
|
H3F3A
|
c.83A > T (p.K28M)
|
Prognostic [51]
|
Poor prognosis
|
|
14-37237
|
Glioblastoma multiforme
|
H3F3A
|
c.83A > T (p.K28M)
|
Prognostic [52, 53]
|
GBM subgroup, K27
|
|
14-35585
|
Renal cell carcinoma
|
VHL
|
c.497 T > G (p.V166G)
|
Diagnostic [54]
|
Von Hippel Lindau
|
|
14-47205
|
Nephroblastomatosis
|
PIK3CA
|
c.1035 T > A (p.N345K)
|
Diagnostic [55]
|
Nephroblastomatosis
|
|
14-78154a
|
Medulloblastoma
|
KDM6A
|
c.2989_2990dupAT (p.M997fs)
|
Prognostic [56]
|
Risk stratification, group 4
|
|
14-75899
|
Neuroblastoma
|
ATRX
|
c.5239delA (p.T1747fs)
|
Prognostic [57]
|
Poor prognosis
|
|
14-10141
|
Pleuropulmonaryblastoma
|
DICER1
|
c.5438A > G (p.E1813G)
|
Health Maintenance [58]
|
DICER syndrome
|
|
Transcriptome analysis and CNV
|
|
14-24794
|
AML
|
CBFB-MYH11
|
Fusion
|
Prognostic [59]
|
Low-risk stratification
|
|
15-64793
|
B-ALL
|
FOXP1-ABL1
|
Fusion
|
Prognostic [60]
|
High-risk stratification
|
|
15-84578
|
AMKL
|
CBFA2T3-GLIS2
|
Fusion
|
Diagnostic [61]; Prognostic [35]
|
AMKL; Poor prognosis
|
|
14-85546
|
CML
|
BCR-ABL1
|
Fusion
|
Diagnostic [59]
|
CML
|
|
13-72282a
|
T-ALL
|
Isochromosome 7q
|
Copy number change
|
Diagnostic [39]
|
Gamma-delta T-cell lymphoma
|
|
15-46387
|
Rhabdomyosarcoma
|
PAX7-FOXO1
|
Fusion
|
Diagnostic [62, 63]; Prognostic [64]
|
Rhabdomyosarcoma; High-risk group
|
|
13-81192
|
Alveolar soft part sarcoma
|
ASPSCR1-TFE3
|
Fusion
|
Diagnostic [65]
|
Alveolar soft part sarcoma
|
|
13-65217
|
Ewing sarcoma
|
EWSR1-FLI1
|
Fusion
|
Diagnostic [66]
|
Ewing sarcoma
|
|
15-47087
|
Ewing sarcoma
|
EWSR1-FLI1; Low expression of PAX8, FHIT, CASP10, CHD2, with high expression of CHD11, FUS, and MTA1
|
Fusion; Expression pattern
|
Diagnostic [66]; Prognostic [36]
|
Ewing sarcoma; Poor prognosis
|
|
13-21968
|
Undifferentiated sarcoma
|
EML4-NTRK3
|
Fusion
|
Diagnostic [34]
|
Infantile fibrosarcoma
|
|
16-88073
|
Ependymoma
|
C11orf95-RELA; Alternating gains and losses on chr 11 and 22, consistent with a “chromothripsis-like” pattern
|
Fusion; Copy number change
|
Prognostic [67]; Diagnostic [68]
|
Poor prognosis; RELA-type supratentorial ependymoma
|
|
14-27243
|
Neuroblastoma
|
MYCN amplified, deletion at 1p and 11q, gain 17q; MYCN over expressed
|
Copy number change; Overexpression
|
Prognostic [69, 70]
|
Risk-based therapy
|
|
14-42817
|
Neuroblastoma
|
MYCN non-amplified, no LOH at 1p11q; MYCN not over expressed
|
Copy number change; No overexpression
|
Prognostic [69, 70]
|
Risk-based therapy
|
|
15-39486
|
Neuroblastoma
|
MYCN non-amplified, no LOH at 1p11q; MYCN not over expressed
|
Copy number change; No overexpression
|
Prognostic [69, 70]
|
Risk-based therapy
|
|
14-44070
|
Neuroblastoma
|
MYCN amplified, loss of 1p, gain of 1q and 17q; MYCN over expressed
|
Copy number change; Overexpression
|
Prognostic [69, 70]
|
Risk-based therapy
|
|
15-88980
|
Hepatoblastoma
|
Amplification of 11q13.2 including CCND1; Over expression of CCND1
|
Copy number change; Overexpression
|
Prognostic [71]
|
Good prognosis
|
|
15-49177
|
Medulloblastoma
|
IMPG2, GABRA5, LAPTM4B, MAB21L2, NPR3, MFAP4, NRL, ZFPM2, TSHZ3, IGF2BP3, GALNT14, GPR98; Loss of 10q22.2-10qter involving PTEN and SUFU, loss of 17p, gain of 17q
|
Overexpression; Copy number change
|
Prognostic [72]
|
Risk stratification, subgroup 3/4
|
|
15-70532
|
Ependymoma
|
Gain of 1q, loss of 6q
|
Copy number change
|
Prognostic [73–75]
|
Poor prognosis
|
|
14-78154a
|
Medulloblastoma
|
KCNA1, RBM24, KLHL13, EN2, SNCAIP, PDE1C, GRM8, KCNIP4, EXPH5, UNC5D, NID2, ST18, GPR12, SH3GL3; i17q
|
Overexpression; Copy number change
|
Prognostic [72]
|
Risk stratification, subgroup 4
|
|
15-40141
|
Pleomorphic xanthoastrocytoma
|
Gain of chromosome 7, LOH at 9p
|
Copy number change
|
Diagnostic [76]
|
Pleomorphic xanthoastrocytoma
|
|
15-97336
|
Small round blue cell tumor
|
EWSR1-WT1
|
Fusion
|
Diagnostic [77]
|
DSRCT
|
|
15-34296
|
Ependymoma
|
TNC, CALB1, PLAG1, ALDH1L1, RELN
|
Overexpression
|
Prognostic [37]
|
Risk stratification, group A, poor prognosis
|
|
15-80972
|
ATRT
|
LOH at 22q11.21qter, including SMARCB1; ASCL1
|
Copy number change; Overexpression
|
Diagnostic [78]; Prognostic [79]
|
ATRT; Improved prognosis
|
