Hugo_Symbol | Variant_Classification | RegID | LGL_Type |
---|---|---|---|
ABCC9 |
Missense_Mutation |
1844 |
T |
ABCC9 |
Missense_Mutation |
2108 |
T |
ABCC9 |
Missense_Mutation |
2022 |
T |
ABCC9 |
Missense_Mutation |
2062 |
T |
ABCC9 |
Nonsense_Mutation |
2127 |
T |
ADAMTSL1 |
Missense_Mutation |
2119 |
T |
ADAMTSL1 |
Missense_Mutation |
2207 |
T |
ADAMTSL1 |
Missense_Mutation |
2081 |
T |
ADAMTSL1 |
Splice_Region |
2051 |
T |
ARHGAP25 |
Missense_Mutation |
2103 |
T |
ARHGAP25 |
Frame_Shift_Del |
2103 |
T |
ARHGAP25 |
Frame_Shift_Del |
2049 |
T |
ARHGAP25 |
Frame_Shift_Ins |
2157 |
GD |
ARNT2 |
Missense_Mutation |
2135 |
T |
ARNT2 |
Missense_Mutation |
1888 |
GD |
ARNT2 |
Missense_Mutation |
2127 |
T |
ASXL3 |
Missense_Mutation |
2214 |
T |
ASXL3 |
Missense_Mutation |
2074 |
T |
ASXL3 |
Missense_Mutation |
2090 |
GD |
C2orf71 |
Missense_Mutation |
2217 |
T |
C2orf71 |
Missense_Mutation |
2107 |
T |
C2orf71 |
Missense_Mutation |
2214 |
T |
CACNA1E |
Missense_Mutation |
1499 |
T |
CACNA1E |
Missense_Mutation |
2190 |
T |
CACNA1E |
Missense_Mutation |
2022 |
T |
CACNA2D3 |
Missense_Mutation |
1844 |
T |
CACNA2D3 |
Missense_Mutation |
2225 |
T |
CACNA2D3 |
Missense_Mutation |
1822 |
GD |
CAD |
Missense_Mutation |
1918 |
T |
CAD |
Missense_Mutation |
2074 |
T |
CAD |
Splice_Region |
2090 |
GD |
CDH20 |
Missense_Mutation |
1544 |
T |
CDH20 |
Missense_Mutation |
2200 |
T |
CDH20 |
Missense_Mutation |
1796 |
T |
CHD9 |
Splice_Region |
2200 |
T |
CHD9 |
Missense_Mutation |
2098 |
T |
CHD9 |
Nonsense_Mutation |
2062 |
T |
CHD9 |
Missense_Mutation |
2127 |
T |
CNTNAP2 |
Missense_Mutation |
2084 |
T |
CNTNAP2 |
Splice_Region |
1955 |
T |
CNTNAP2 |
Missense_Mutation |
2127 |
T |
COL11A1 |
Splice_Site |
2205 |
T |
COL11A1 |
Missense_Mutation |
2205 |
T |
COL11A1 |
Splice_Region |
2169 |
T |
COL11A1 |
Missense_Mutation |
2037 |
T |
COL11A1 |
Missense_Mutation |
2146 |
T |
COL11A1 |
Splice_Region |
2127 |
T |
COL24A1 |
Nonsense_Mutation |
2049 |
T |
COL24A1 |
Missense_Mutation |
1718 |
T |
COL24A1 |
Splice_Region |
2051 |
T |
COL3A1 |
Splice_Region |
2042 |
T |
COL3A1 |
Nonsense_Mutation |
2191 |
T |
COL3A1 |
Missense_Mutation |
1798 |
T |
CSMD3 |
Nonsense_Mutation |
2205 |
T |
CSMD3 |
Missense_Mutation |
2049 |
T |
CSMD3 |
Missense_Mutation |
2214 |
T |
CUX2 |
Splice_Region |
2249 |
T |
CUX2 |
Missense_Mutation |
1974 |
T |
CUX2 |
Missense_Mutation |
2051 |
T |
DAPK1 |
Missense_Mutation |
2095 |
T |
DAPK1 |
Missense_Mutation |
2042 |
T |
DAPK1 |
Missense_Mutation |
2082 |
T |
DDX59 |
Missense_Mutation |
2108 |
T |
DDX59 |
Missense_Mutation |
2049 |
T |
DDX59 |
Missense_Mutation |
2084 |
T |
DDX59 |
Missense_Mutation |
2084 |
T |
DMD |
Missense_Mutation |
2249 |
T |
DMD |
Splice_Region |
2204 |
T |
DMD |
Missense_Mutation |
2042 |
T |
DMD |
Missense_Mutation |
1999 |
T |
DNAH5 |
Missense_Mutation |
1822 |
GD |
DNAH5 |
Missense_Mutation |
2157 |
GD |
DNAH5 |
Missense_Mutation |
2127 |
T |
DNER |
Missense_Mutation |
1715 |
T |
DNER |
Splice_Region |
2081 |
T |
DNER |
Splice_Site |
2062 |
T |
DNMT3A |
Missense_Mutation |
2226 |
T |
DNMT3A |
Missense_Mutation |
2135 |
T |
DNMT3A |
Missense_Mutation |
1549 |
T |
DSCAM |
Missense_Mutation |
2214 |
T |
DSCAM |
Missense_Mutation |
2186 |
GD |
DSCAM |
Missense_Mutation |
2146 |
T |
EPHA7 |
Splice_Region |
1746 |
T |
EPHA7 |
Missense_Mutation |
1970 |
T |
EPHA7 |
Missense_Mutation |
2051 |
T |
EYS |
Missense_Mutation |
2214 |
T |
EYS |
Missense_Mutation |
2105 |
T |
EYS |
Missense_Mutation |
1906 |
T |
EYS |
Missense_Mutation |
2090 |
GD |
FAS |
Nonsense_Mutation |
2249 |
T |
FAS |
Frame_Shift_Del |
2056 |
T |
FAS |
Splice_Region |
2077 |
T |
FAS |
Missense_Mutation |
2077 |
T |
FAT3 |
Missense_Mutation |
2042 |
T |
FAT3 |
Missense_Mutation |
2084 |
T |
FAT3 |
Missense_Mutation |
2169 |
T |
FAT3 |
Missense_Mutation |
2062 |
T |
FAT4 |
Missense_Mutation |
1918 |
T |
FAT4 |
Missense_Mutation |
2228 |
T |
FAT4 |
Missense_Mutation |
1688 |
T |
FAT4 |
Missense_Mutation |
1798 |
T |
FSIP2 |
Missense_Mutation |
2202 |
T |
FSIP2 |
Missense_Mutation |
2251 |
T |
FSIP2 |
Missense_Mutation |
2074 |
T |
FSTL5 |
Missense_Mutation |
1945 |
T |
FSTL5 |
Missense_Mutation |
2009 |
T |
FSTL5 |
Missense_Mutation |
2225 |
T |
GLI3 |
Missense_Mutation |
1718 |
T |
GLI3 |
Missense_Mutation |
2051 |
T |
GLI3 |
Nonsense_Mutation |
2127 |
T |
GRID2 |
Splice_Region |
2164 |
T |
GRID2 |
Missense_Mutation |
1822 |
GD |
GRID2 |
Missense_Mutation |
2127 |
T |
HERC2 |
Nonsense_Mutation |
2249 |
T |
HERC2 |
Missense_Mutation |
2042 |
T |
HERC2 |
Frame_Shift_Del |
2146 |
T |
HRNR |
Missense_Mutation |
2174 |
T |
HRNR |
Missense_Mutation |
2037 |
T |
HRNR |
Missense_Mutation |
2146 |
T |
HTT |
Missense_Mutation |
2107 |
T |
HTT |
In_Frame_Del |
2165 |
T |
HTT |
Missense_Mutation |
1960 |
GD |
ITGAL |
Missense_Mutation |
1844 |
T |
ITGAL |
Splice_Region |
2042 |
T |
ITGAL |
Missense_Mutation |
2152 |
T |
ITGAL |
Splice_Region |
1549 |
T |
KDM6A |
Nonsense_Mutation |
2173 |
T |
KDM6A |
Missense_Mutation |
1544 |
T |
KDM6A |
Splice_Region |
2214 |
T |
KDM6A |
Frame_Shift_Del |
1798 |
T |
KIAA0196 |
Missense_Mutation |
2083 |
GD |
KIAA0196 |
Missense_Mutation |
1822 |
GD |
KIAA0196 |
Missense_Mutation |
1549 |
T |
KMT2D |
Nonsense_Mutation |
2249 |
T |
KMT2D |
Frame_Shift_Del |
2207 |
T |
KMT2D |
Nonsense_Mutation |
2207 |
T |
KMT2D |
Frame_Shift_Del |
2225 |
T |
KMT2D |
In_Frame_Del |
2029 |
T |
KMT2D |
Nonsense_Mutation |
2042 |
T |
KMT2D |
Frame_Shift_Del |
2105 |
T |
KMT2D |
Nonsense_Mutation |
2147 |
T |
KMT2D |
Nonsense_Mutation |
2074 |
T |
KMT2D |
Frame_Shift_Ins |
2090 |
GD |
KMT2D |
Missense_Mutation |
2051 |
T |
KMT2D |
Splice_Site |
2127 |
T |
KY |
Missense_Mutation |
1844 |
T |
KY |
Nonsense_Mutation |
1895 |
T |
KY |
Splice_Region |
2157 |
GD |
LAMC3 |
Missense_Mutation |
2135 |
T |
LAMC3 |
Missense_Mutation |
1822 |
GD |
LAMC3 |
Splice_Region |
1974 |
T |
MUC16 |
Missense_Mutation |
2205 |
T |
MUC16 |
Missense_Mutation |
2107 |
T |
MUC16 |
Missense_Mutation |
2103 |
T |
MUC16 |
Missense_Mutation |
1955 |
T |
MYO18B |
Missense_Mutation |
1499 |
T |
MYO18B |
Missense_Mutation |
2042 |
T |
MYO18B |
Missense_Mutation |
2074 |
T |
MYO18B |
Missense_Mutation |
2127 |
T |
NCKAP5 |
Missense_Mutation |
1544 |
T |
NCKAP5 |
Missense_Mutation |
2249 |
T |
NCKAP5 |
Missense_Mutation |
1549 |
T |
NCKAP5 |
Missense_Mutation |
2144 |
T |
NDST3 |
Missense_Mutation |
2103 |
T |
NDST3 |
Missense_Mutation |
1746 |
T |
NDST3 |
Missense_Mutation |
1822 |
GD |
NRP2 |
Missense_Mutation |
1544 |
T |
NRP2 |
Missense_Mutation |
2107 |
T |
NRP2 |
Splice_Site |
2049 |
T |
OLFML2A |
Missense_Mutation |
2135 |
T |
OLFML2A |
Missense_Mutation |
2180 |
T |
OLFML2A |
Missense_Mutation |
2157 |
GD |
OTOG |
Missense_Mutation |
2208 |
GD |
OTOG |
Missense_Mutation |
2207 |
T |
OTOG |
Missense_Mutation |
1746 |
T |
PCDH11X |
Missense_Mutation |
2205 |
T |
PCDH11X |
Missense_Mutation |
2228 |
T |
PCDH11X |
Missense_Mutation |
1970 |
T |
PCDH15 |
Missense_Mutation |
1970 |
T |
PCDH15 |
Missense_Mutation |
2191 |
T |
PCDH15 |
Missense_Mutation |
2074 |
T |
PCDHA11 |
Missense_Mutation |
1544 |
T |
PCDHA11 |
Missense_Mutation |
1888 |
GD |
PCDHA11 |
Missense_Mutation |
2042 |
T |
PCLO |
Missense_Mutation |
1844 |
T |
PCLO |
Missense_Mutation |
1746 |
T |
PCLO |
Missense_Mutation |
2152 |
T |
PCLO |
Missense_Mutation |
2051 |
T |
PIK3R1 |
In_Frame_Del |
2249 |
T |
PIK3R1 |
Missense_Mutation |
1746 |
T |
PIK3R1 |
Missense_Mutation |
2247 |
GD |
PIK3R1 |
Missense_Mutation |
2143 |
T |
RYR2 |
Missense_Mutation |
2173 |
T |
RYR2 |
Missense_Mutation |
1945 |
T |
RYR2 |
Missense_Mutation |
1544 |
T |
RYR2 |
Missense_Mutation |
2251 |
T |
RYR2 |
Nonsense_Mutation |
1895 |
T |
RYR2 |
Missense_Mutation |
2074 |
T |
SALL3 |
Missense_Mutation |
2165 |
T |
SALL3 |
Missense_Mutation |
1549 |
T |
SALL3 |
Missense_Mutation |
2127 |
T |
SETD1B |
Splice_Site |
1544 |
T |
SETD1B |
In_Frame_Del |
2228 |
T |
SETD1B |
Missense_Mutation |
2214 |
T |
SETD1B |
Splice_Site |
2074 |
T |
SETD1B |
Splice_Site |
1974 |
T |
SETD1B |
Frame_Shift_Del |
2127 |
T |
SLC6A15 |
Missense_Mutation |
1918 |
T |
SLC6A15 |
Missense_Mutation |
2074 |
T |
SLC6A15 |
Missense_Mutation |
1999 |
T |
SLC6A15 |
Missense_Mutation |
2051 |
T |
SMAD6 |
In_Frame_Del |
2174 |
T |
SMAD6 |
Frame_Shift_Del |
2174 |
T |
SMAD6 |
Nonsense_Mutation |
2126 |
T |
SMAD6 |
Missense_Mutation |
1955 |
T |
SORCS3 |
Splice_Site |
1499 |
T |
SORCS3 |
Missense_Mutation |
1746 |
T |
SORCS3 |
Missense_Mutation |
2042 |
T |
SRRM2 |
Missense_Mutation |
2228 |
T |
SRRM2 |
Missense_Mutation |
1822 |
GD |
SRRM2 |
Missense_Mutation |
2090 |
GD |
SSC5D |
Missense_Mutation |
1948 |
T |
SSC5D |
Missense_Mutation |
1822 |
GD |
SSC5D |
Missense_Mutation |
1974 |
T |
STAT3 |
Missense_Mutation |
1715 |
T |
STAT3 |
Missense_Mutation |
1499 |
T |
STAT3 |
Missense_Mutation |
1474 |
T |
STAT3 |
Missense_Mutation |
1918 |
T |
STAT3 |
Missense_Mutation |
2020 |
T |
STAT3 |
Missense_Mutation |
1544 |
T |
STAT3 |
Missense_Mutation |
2205 |
T |
STAT3 |
Missense_Mutation |
1849 |
T |
STAT3 |
Missense_Mutation |
2208 |
GD |
STAT3 |
Missense_Mutation |
2249 |
T |
STAT3 |
Missense_Mutation |
2056 |
T |
STAT3 |
Missense_Mutation |
2228 |
T |
STAT3 |
Missense_Mutation |
2108 |
T |
STAT3 |
Missense_Mutation |
2103 |
T |
STAT3 |
Missense_Mutation |
2207 |
T |
STAT3 |
Missense_Mutation |
2207 |
T |
STAT3 |
Missense_Mutation |
2049 |
T |
STAT3 |
Missense_Mutation |
2139 |
T |
STAT3 |
Missense_Mutation |
2139 |
T |
STAT3 |
Missense_Mutation |
1746 |
T |
STAT3 |
Missense_Mutation |
1970 |
T |
STAT3 |
Missense_Mutation |
2180 |
T |
STAT3 |
Missense_Mutation |
1796 |
T |
STAT3 |
Missense_Mutation |
1718 |
T |
STAT3 |
Missense_Mutation |
2151 |
T |
STAT3 |
Missense_Mutation |
2225 |
T |
STAT3 |
Missense_Mutation |
2174 |
T |
STAT3 |
Missense_Mutation |
1888 |
GD |
STAT3 |
Missense_Mutation |
2095 |
T |
STAT3 |
Missense_Mutation |
2126 |
T |
STAT3 |
Missense_Mutation |
2214 |
T |
STAT3 |
Missense_Mutation |
2042 |
T |
STAT3 |
Missense_Mutation |
2110 |
T |
STAT3 |
Missense_Mutation |
2084 |
T |
STAT3 |
Missense_Mutation |
2105 |
T |
STAT3 |
Missense_Mutation |
2251 |
T |
STAT3 |
Missense_Mutation |
2147 |
T |
STAT3 |
Missense_Mutation |
1985 |
T |
STAT3 |
Missense_Mutation |
2190 |
T |
STAT3 |
Missense_Mutation |
2152 |
T |
STAT3 |
Missense_Mutation |
2152 |
T |
STAT3 |
Missense_Mutation |
2082 |
T |
STAT3 |
Missense_Mutation |
2164 |
T |
STAT3 |
Missense_Mutation |
2022 |
T |
STAT3 |
Missense_Mutation |
1798 |
T |
STAT3 |
Missense_Mutation |
2074 |
T |
STAT3 |
Missense_Mutation |
2090 |
GD |
STAT3 |
Missense_Mutation |
2081 |
T |
STAT3 |
Missense_Mutation |
2062 |
T |
STAT3 |
Missense_Mutation |
2037 |
T |
STAT3 |
Missense_Mutation |
1974 |
T |
STAT3 |
Missense_Mutation |
2144 |
T |
STAT3 |
Missense_Mutation |
2051 |
T |
STAT3 |
Missense_Mutation |
2157 |
GD |
STAT3 |
Missense_Mutation |
2157 |
GD |
STAT3 |
Missense_Mutation |
2077 |
T |
STAT3 |
Missense_Mutation |
2127 |
T |
STAT5B |
Missense_Mutation |
1844 |
T |
STAT5B |
Missense_Mutation |
1895 |
T |
STAT5B |
Missense_Mutation |
1822 |
GD |
SULF1 |
Missense_Mutation |
1844 |
T |
SULF1 |
Missense_Mutation |
2009 |
T |
SULF1 |
Missense_Mutation |
2049 |
T |
SULF1 |
Missense_Mutation |
1822 |
GD |
SVEP1 |
Missense_Mutation |
1888 |
GD |
SVEP1 |
Missense_Mutation |
2074 |
T |
SVEP1 |
Missense_Mutation |
2051 |
T |
SYNJ1 |
Missense_Mutation |
2029 |
T |
SYNJ1 |
Missense_Mutation |
2110 |
T |
SYNJ1 |
Missense_Mutation |
2105 |
T |
TENM3 |
Splice_Site |
1499 |
T |
TENM3 |
Missense_Mutation |
1544 |
T |
TENM3 |
Missense_Mutation |
1746 |
T |
TENM3 |
Missense_Mutation |
2191 |
T |
TET2 |
Frame_Shift_Del |
2228 |
T |
TET2 |
Frame_Shift_Del |
2207 |
T |
TET2 |
Frame_Shift_Del |
2049 |
T |
TET2 |
Nonsense_Mutation |
2126 |
T |
TET2 |
Nonsense_Mutation |
2251 |
T |
TNFAIP3 |
Nonsense_Mutation |
1544 |
T |
TNFAIP3 |
Frame_Shift_Del |
2249 |
T |
TNFAIP3 |
Missense_Mutation |
2249 |
T |
TNFAIP3 |
Nonsense_Mutation |
2139 |
T |
TNFAIP3 |
Frame_Shift_Ins |
2145 |
T |
TNFAIP3 |
Frame_Shift_Del |
2145 |
T |
TNFAIP3 |
Nonsense_Mutation |
2125 |
T |
TNFAIP3 |
Frame_Shift_Del |
2082 |
T |
TNFAIP3 |
Frame_Shift_Ins |
2074 |
T |
TNFAIP3 |
Missense_Mutation |
2081 |
T |
TNFAIP3 |
Frame_Shift_Del |
2037 |
T |
TTN |
Missense_Mutation |
2205 |
T |
TTN |
Missense_Mutation |
2153 |
T |
TTN |
Missense_Mutation |
2110 |
T |
TTN |
Missense_Mutation |
2251 |
T |
TTN |
Missense_Mutation |
2190 |
T |
TTN |
Missense_Mutation |
1960 |
GD |
TTN |
Missense_Mutation |
2081 |
T |
USH2A |
Missense_Mutation |
2173 |
T |
USH2A |
Missense_Mutation |
2205 |
T |
USH2A |
Missense_Mutation |
2122 |
T |
USH2A |
Missense_Mutation |
2207 |
T |
USH2A |
Missense_Mutation |
2225 |
T |
USH2A |
Missense_Mutation |
2125 |
T |
USH2A |
Splice_Region |
2152 |
T |
VCAN |
Missense_Mutation |
1844 |
T |
VCAN |
Missense_Mutation |
2214 |
T |
VCAN |
Missense_Mutation |
2125 |
T |
VCAN |
Missense_Mutation |
2077 |
T |
WDFY3 |
Nonsense_Mutation |
2139 |
T |
WDFY3 |
Missense_Mutation |
2147 |
T |
WDFY3 |
Splice_Region |
1549 |
T |
XIRP2 |
Missense_Mutation |
2202 |
T |
XIRP2 |
Missense_Mutation |
2084 |
T |
XIRP2 |
Missense_Mutation |
2105 |
T |
ZNF585B |
Missense_Mutation |
2174 |
T |
ZNF585B |
Missense_Mutation |
2214 |
T |
ZNF585B |
Missense_Mutation |
2022 |
T |
Supplemental Table 2.
Genes that are mutated in three or more patients in the cohort are shown.
Oligonucleotide primer list | ||||
---|---|---|---|---|
PCR Target | RefSeq Accession No. | Detected Coding Transcript(s) | BioRad Unique Assay ID | Amplicon Context Sequence |
ZBTB46 |
NC_000020.10, NT_011333.6 |
ENST00000245663, ENST00000302995, ENST00000395104 |
qHsaCID0021250 |
CAGTACGGACACTTGAACTTCTTCCTGATCACCGTGAACTCATTCAGGGACAGCGAGTGGGCCCCTCTGGGCAGGTACTCGAACAGCAGGGAGCCGTCATCCCCCAGCACGT |
AKT3 |
NG_027811.1, NC_000001.10, NT_167186.1 |
ENST00000336199, ENST00000366540, ENST00000366539, ENST00000552631, |
qHsaCID0036448 |
TTATCAATTTGTGAAGTTGGACTACAATTCATTCTCTCCTCTTCTTGCCTCTGCAGTCTGTCTGCTACAGCCTGGATAGCTTCTGTCCATTCTTCCCTTTCCTCTGGAGTATCTACATGAAATGTTC |
PDGFB |
NC_000022.10, NG_012111.1, NT_011520.12 |
ENST00000263826 |
qHsaCID0016004 |
AGCTCGCCTCCAGAGTGGGAGCGGGTCATGTTCAGGTCCAACTCGGCCCCATCTTCCTCTCCGGGGTCTCCGTGCAGCAGGCGTTGGAGATCATCAAAGGAGCGGATCGAGTGGTC |
STAT3 |
NC_000017.10, NT_010783.15, NG_007370.1 |
ENST00000264657, ENST00000404395, ENST00000389272 |
qHsaCID0010912 |
GGTGTCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGT |
STAT1 |
NC_000002.11, NG_008294.1, NT_005403.17 |
ENST00000361099, ENST00000409465, ENST00000392322, ENST00000392323, |
qHsaCID0007580 |
TTGTCTAACATCACTGTGCTCTGAATATTCCCCGACTGAGCCTGATTAAATCTCTGGGCGTTTTCCAGAATTTTCCTTTCTTCCTTCAGACAGCTGTAAATGATCATAGACATCTGGATTGG |
PDGFRβ |
NC_000005.9, NG_012303.1, NG_023367.1, NT_029289.11 |
ENST00000261799, ENST00000544453 |
qHsaCID0013272 |
TGGTAGCTGAAGCCCACGAGGTCCATGTAGCTTAGCACTGGAGACTCGTTGATCAAAGTTGCTCGGCAGGTCCTCTCAGGGGCAGAGGGAACGTAGTTATCGTAAGGGGCCATGTAGTTGGAGGACTCGATGTCTGCATATTTGACG |
HPRT1 |
NC_000023.10, NG_012329.1, NT_011786.16 |
ENST00000298556, ENST00000370796 |
qHsaCID0016375 |
GACACTGGCAAAACAATGCAGACTTTGCTTTCCTTGGTCAGGCAGTATAATCCAAAGATGGTCAAGGTCGCAAGCTTGCTGGTGAAAAGGACCCCACGAAGTGTTGGATATAAGCCAGAC |
TBP |
NC_000006.11, NT_025741.15, NG_008165.1 |
ENST00000230354, ENST00000392092, ENST00000392091, ENST00000540980 |
qHsaCID0007122 |
AAATATTGTATCCACAGTGAATCTTGGTTGTAAACTTGACCTAAAGACCATTGCACTTCGTGCCCGAAACGCCGAATATAATCCCAAGCGGTTTGCTGCGGTAATCATGAGGATAAGAGAGCCACGAACCACGGCACTGATTTTCAGTTC |
Supplemental Table 3.
RegID | LGL type | cellularity_percent | lymphocyte_percent | CD3 | CD8 | M_E_ratio | Reticulin | TCR_clone | TIA_staining | Granzyme | TET2 | STAT3 | TNFAIP3 | KMT2D | SETD1B |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1715 |
T |
NA |
NA |
Y |
Y |
NA |
NA |
Y |
NA |
NA |
N |
Y |
N |
N |
N |
1718 |
T |
60 |
15 |
Y |
Y |
3 |
Zero |
Y |
Y |
Y |
N |
Y |
N |
N |
N |
1849 |
T |
65 |
10 |
Y |
Y |
3 |
Zero |
Y |
N |
N |
N |
Y |
N |
N |
N |
1918 |
T |
60 |
24 |
Y |
Y |
4 |
Zero |
Y |
Y |
Y |
N |
Y |
N |
N |
N |
1948 |
T |
30 |
14 |
Y |
N |
0.5 |
Zero |
Y |
NA |
NA |
N |
N |
N |
N |
N |
1955 |
T |
55 |
17 |
Y |
Y |
3 |
Zero |
Y |
NA |
N |
N |
N |
N |
N |
N |
1960 |
GD |
75 |
48 |
Y |
Y |
3 |
One |
N |
N |
Y |
N |
N |
N |
N |
N |
1970 |
T |
85 |
59 |
Y |
Y |
5 |
Three |
Y |
NA |
N |
N |
Y |
N |
N |
N |
1973 |
T |
60 |
30 |
Y |
Y |
2 |
Two |
Y |
NA |
N |
N |
N |
N |
N |
N |
2042 |
T |
NA |
NA |
Y |
Y |
1 |
NA |
NA |
NA |
NA |
N |
Y |
N |
Y |
N |
2050 |
T |
30 |
21 |
Y |
Y |
3 |
Zero |
NA |
NA |
NA |
N |
N |
N |
N |
N |
2056 |
T |
55 |
19 |
Y |
Y |
3 |
NA |
Y |
NA |
NA |
N |
Y |
N |
N |
N |
2062 |
T |
50 |
26 |
Y |
Y |
3 |
Two |
Y |
Y |
Y |
N |
Y |
N |
N |
N |
2074 |
T |
30 |
20 |
Y |
Y |
3 |
NA |
Y |
Y |
Y |
N |
Y |
Y |
Y |
Y |
2080 |
GD |
10 |
15 |
Y |
Y |
3 |
Two |
Y |
Y |
Y |
N |
N |
N |
N |
N |
2083 |
GD |
5 |
NA |
Y |
Y |
3 |
One |
Y |
NA |
NA |
N |
N |
N |
N |
N |
2084 |
T |
80 |
40 |
Y |
Y |
0.4 |
One |
N |
N |
N |
N |
Y |
N |
N |
N |
2108 |
T |
45 |
NA |
Y |
Y |
3 |
One |
Y |
Y |
Y |
N |
Y |
N |
N |
N |
2110 |
T |
25 |
34 |
Y |
Y |
0.2 |
Zero |
Y |
Y |
Y |
N |
Y |
N |
N |
N |
2116 |
GD |
12 |
39 |
Y |
Y |
3 |
Zero |
N |
N |
N |
N |
N |
N |
N |
N |
2119 |
T |
40 |
25 |
Y |
Y |
3 |
Zero |
N |
N |
N |
N |
N |
N |
N |
N |
2122 |
T |
30 |
NA |
Y |
Y |
3 |
Zero |
N |
N |
N |
N |
N |
N |
N |
N |
2126 |
T |
50 |
42 |
NA |
NA |
4 |
One |
Y |
NA |
NA |
Y |
Y |
N |
N |
N |
2151 |
T |
45 |
33 |
Y |
Y |
3 |
One |
N |
N |
N |
N |
Y |
N |
N |
N |
2152 |
T |
60 |
25 |
Y |
Y |
NA |
NA |
N |
N |
N |
N |
Y |
N |
N |
N |
2169 |
T |
45 |
6 |
Y |
NA |
3 |
One |
NA |
NA |
NA |
N |
N |
N |
N |
N |
2208 |
GD |
30 |
13 |
Y |
Y |
3 |
Zero |
N |
N |
N |
N |
Y |
N |
N |
N |
2228 |
T |
70 |
3 |
Y |
Y |
3 |
Zero |
NA |
NA |
NA |
Y |
Y |
N |
N |
Y |
2247 |
GD |
34 |
1 |
Y |
NA |
0.2 |
Zero |
Y |
Y |
Y |
N |
N |
N |
N |
N |
1474 |
T |
65 |
25 |
Y |
Y |
3 |
Zero |
Y |
NA |
NA |
N |
Y |
N |
N |
N |
1499 |
T |
70 |
NA |
Y |
Y |
2 |
NA |
Y |
Y |
N |
N |
Y |
N |
N |
N |
1544 |
T |
40 |
18 |
Y |
Y |
1.4 |
Zero |
NA |
NA |
NA |
N |
Y |
Y |
N |
Y |
1549 |
T |
90 |
20 |
Y |
Y |
6 |
Two |
Y |
NA |
NA |
N |
N |
N |
N |
N |
1726 |
T |
80 |
NA |
Y |
Y |
1 |
NA |
Y |
NA |
NA |
N |
N |
N |
N |
N |
1733 |
T |
45 |
NA |
Y |
Y |
0.8 |
Zero |
Y |
Y |
Y |
N |
N |
N |
N |
N |
1746 |
T |
60 |
NA |
Y |
Y |
2 |
One |
Y |
NA |
NA |
N |
Y |
N |
N |
N |
1798 |
T |
45 |
5 |
Y |
Y |
NA |
One |
Y |
NA |
NA |
N |
Y |
N |
N |
N |
1822 |
T |
70 |
17 |
Y |
Y |
NA |
NA |
NA |
NA |
NA |
N |
N |
N |
N |
N |
1945 |
T |
65 |
40 |
Y |
Y |
3 |
Zero |
Y |
Y |
Y |
N |
N |
N |
N |
N |
1985 |
T |
15 |
15 |
Y |
Y |
1.4 |
Zero |
NA |
NA |
NA |
N |
Y |
N |
N |
N |
2107 |
T |
15 |
NA |
Y |
NA |
NA |
NA |
NA |
NA |
NA |
N |
N |
N |
N |
N |
2214 |
T |
55 |
22 |
Y |
Y |
2 |
Zero |
Y |
Y |
Y |
N |
Y |
N |
N |
Y |
Supplemental Table 5.
RegID: Patient registry ID at UVA LGL registry
Cellularity_percent: Percent of bone marrow biopsy specimen composing the volume of cells compared to the volume of other components of the bone marrow, acquired from pathology report of bone marrow biopsy
lymphocyte_percent: Percent of lymphocytes acquired from pathology report of bone marrow aspirate
CD3: Presence or absence of CD3+ lymphocytes in bone marrow aspirate
CD8: Presence or absence of CD8+ lymphocytes in bone marrow aspirate
M_E_ratio: The ratio of myeloid to erythroid precursors acquired from the pathology report of bone marrow biopsy
Reticulin: Reticulin staining of bone marrow biopsy graded on bauermeister scale as follows: 0 (absent), 1 (fine fibers), 2 (diffuse fine fiber network), 3 (diffuse fiber network with scattered coarse fibers), and 4 (areas of collagen on trichrome stain)
TCR_clone: Presence of absence of T-cell receptor clone via gamma-chain gene PCR assay
TIA_staining: Presence or absence of TIA-1 antibodies acquired from immunohistochemistry report of bone marrow biopsy specimens
Granzyme: Presence or absence of granzyme B antibodies acquired from immunohistochemistry report of bone marrow biopsy specimens
TET2 to SETD1B: Presence of somatic mutations (as indicated in the column name) in patient whole exome sequencing data. These five genes are selected based on frequency of occurrence in the cohort as a putative driver, and it's co-occurrence with STAT3 mutations.
NA values: Not available
RegID | Age (Years) | Sex | LGL_Type | RBC (10e6/mm3) | HCT (%) | HGB (g/dL) | WBC (10e9/L) | MCV (fL) | RDW (%) | Platelets (10e9/L) | >Neutrophils (%) | Lymphocytes (%) | ANC (k/µL) | ALC (k/µL) | Rheumatoid Arthritis (Y/N) | Treatment_at_sequencing | Treatment | Treatment Response | LGL absolute count (k/µL | TCRgdpos (%) | TCRgdposCD3pos (%) | CD3pos (%) | CD8pos (%) | CD3posCD8pos (%) | CD16pos (%) | CD3posCD16pos (%) | CD56pos (%) | CD3posCD56pos (%) | CD57pos (%) | CD3posCD57pos (%) | CD3negCD16pos (%) | CD3negCD56pos (%) | CD3negCD57pos (%) | CD94pos (%) |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1474 |
72 |
M |
T |
4.37 |
40.1 |
13.4 |
6.1 |
91.8 |
14.9 |
166 |
28 |
65 |
1.71 |
3.97 |
N |
N |
190.56 |
NA |
NA |
NA |
NA |
75 |
NA |
6 |
NA |
6 |
NA |
48 |
NA |
NA |
NA |
NA |
||
1499 |
50 |
F |
T |
4.64 |
38.7 |
13.6 |
2.9 |
83.4 |
13.7 |
145 |
4 |
86 |
0.12 |
2.49 |
N |
Y |
Cyclosporine |
NR |
9.96 |
NA |
NA |
NA |
NA |
53 |
NA |
3 |
NA |
4 |
NA |
4 |
NA |
NA |
NA |
NA |
1544 |
54 |
F |
T |
4.35 |
38 |
12.9 |
4.6 |
87.4 |
14.7 |
290 |
13 |
76 |
0.6 |
3.5 |
N |
N |
NA |
NA |
93 |
76 |
NA |
60 |
NA |
2 |
NA |
34 |
NA |
NA |
NA |
NA |
NA |
|||
1549 |
70 |
F |
T |
2.7 |
31.8 |
10 |
2.7 |
117.8 |
13.8 |
166 |
25 |
67 |
0.68 |
1.81 |
N |
NA |
137.56 |
NA |
NA |
95 |
86 |
84 |
NA |
76 |
NA |
1 |
NA |
66 |
NA |
NA |
NA |
NA |
||
1688 |
59 |
F |
T |
3.95 |
38.7 |
12.6 |
2.5 |
98 |
12.9 |
150 |
56.1 |
37.5 |
1.4 |
0.94 |
N |
N |
NA |
NA |
NA |
50 |
NA |
NA |
NA |
NA |
17 |
NA |
NA |
NA |
NA |
NA |
NA |
|||
1715 |
44 |
F |
T |
2.74 |
28.4 |
9.9 |
7.7 |
103.6 |
16.5 |
327 |
5 |
90 |
0.39 |
6.93 |
N |
N |
NA |
NA |
76 |
NA |
46 |
30 |
NA |
NA |
NA |
50 |
NA |
NA |
NA |
NA |
NA |
|||
1718 |
59 |
M |
T |
3.19 |
30.8 |
10.4 |
6.58 |
96.6 |
15.9 |
281 |
15.6 |
76.1 |
1.03 |
5.01 |
N |
N |
275.55 |
NA |
NA |
NA |
NA |
75 |
NA |
3 |
NA |
2 |
NA |
55 |
NA |
NA |
NA |
NA |
||
1726 |
76 |
M |
GD |
4.44 |
40 |
14.1 |
6.32 |
90.1 |
13.5 |
82 |
80.5 |
9.2 |
5.09 |
0.58 |
N |
Y |
Cytoxan |
NE |
2.9 |
85 |
NA |
96 |
NA |
15 |
NA |
0 |
NA |
22 |
NA |
5 |
NA |
NA |
NA |
NA |
1733 |
64 |
F |
T |
3.66 |
34.9 |
11.3 |
9.79 |
95.4 |
15.1 |
317 |
32 |
60 |
3.13 |
5.87 |
Y |
N |
129.14 |
NA |
NA |
NA |
NA |
40 |
NA |
1 |
NA |
3 |
NA |
22 |
NA |
NA |
NA |
NA |
||
1746 |
69 |
F |
T |
2.99 |
28.5 |
9.8 |
2.89 |
95.3 |
14.9 |
168 |
41 |
45 |
1.18 |
1.3 |
N |
Y |
Cyclosporine |
PR |
40.3 |
NA |
NA |
96 |
NA |
72 |
NA |
0 |
NA |
0 |
NA |
31 |
NA |
NA |
NA |
NA |
1754 |
59 |
F |
T |
5.16 |
46.2 |
16.2 |
10.89 |
89.5 |
12.7 |
255 |
48.7 |
43.2 |
5.3 |
4.7 |
N |
N |
267.9 |
NA |
NA |
NA |
NA |
54 |
NA |
14 |
NA |
8 |
NA |
57 |
NA |
NA |
NA |
NA |
||
1796 |
59 |
M |
T |
4.47 |
37.8 |
12.4 |
1.65 |
84.6 |
16.9 |
181 |
12 |
76 |
0.2 |
1.25 |
Y |
N |
31.25 |
NA |
NA |
NA |
NA |
52 |
NA |
0 |
NA |
1 |
NA |
25 |
NA |
NA |
NA |
NA |
||
1798 |
47 |
M |
T |
4.84 |
43.9 |
15.5 |
4.75 |
90.7 |
13.1 |
132 |
35 |
54.7 |
1.66 |
2.6 |
N |
N |
88.4 |
NA |
NA |
NA |
NA |
58 |
NA |
0 |
NA |
20 |
NA |
34 |
NA |
NA |
NA |
NA |
||
1822 |
75 |
F |
GD |
3.27 |
23.7 |
7.3 |
14.2 |
72.5 |
20.9 |
103 |
NA |
NA |
0 |
0 |
NA |
Y |
Cytoxan |
NE |
73 |
NA |
50 |
1 |
NA |
1 |
NA |
50 |
NA |
1 |
NA |
NA |
NA |
NA |
NA |
|
1844 |
61 |
F |
T |
3.83 |
38.1 |
13.3 |
7.5 |
99.5 |
12.2 |
229 |
26.7 |
65.3 |
2 |
4.9 |
N |
N |
NA |
NA |
94 |
65 |
NA |
NA |
NA |
NA |
NA |
50 |
NA |
NA |
NA |
NA |
NA |
|||
1849 |
27 |
F |
T |
4.89 |
42.7 |
14.7 |
3.6 |
87.3 |
13.2 |
110 |
46 |
45 |
1.66 |
1.62 |
N |
N |
14.58 |
NA |
NA |
NA |
NA |
29 |
NA |
0 |
NA |
1 |
NA |
9 |
NA |
NA |
NA |
NA |
||
1878 |
39 |
F |
T |
4.62 |
42.3 |
14.1 |
3.94 |
91.6 |
13.8 |
223 |
25.9 |
59.6 |
1.02 |
2.35 |
N |
N |
49.35 |
NA |
NA |
NA |
NA |
41 |
NA |
0 |
NA |
18 |
NA |
21 |
NA |
NA |
NA |
NA |
||
1888 |
66 |
F |
GD |
4.53 |
34.5 |
11 |
3.11 |
76.2 |
16.4 |
109 |
0.4 |
80.4 |
0.01 |
2.5 |
Y |
N |
125 |
NA |
58 |
NA |
NA |
68 |
NA |
0 |
NA |
0 |
NA |
50 |
NA |
NA |
NA |
NA |
||
1895 |
70 |
F |
T |
4 |
35.7 |
12.4 |
9.2 |
89.3 |
13 |
252 |
55 |
36 |
5.06 |
3.31 |
N |
N |
99.3 |
NA |
NA |
NA |
31 |
NA |
NA |
4 |
NA |
18 |
NA |
30 |
NA |
NA |
NA |
NA |
||
1906 |
55 |
M |
T |
4.4 |
40 |
14.1 |
3.93 |
90.9 |
13.8 |
158 |
19.3 |
67.2 |
0.76 |
2.64 |
N |
N |
116.16 |
NA |
NA |
NA |
NA |
53 |
NA |
0 |
NA |
0 |
NA |
44 |
NA |
NA |
NA |
NA |
||
1918 |
50 |
F |
T |
2.46 |
26.5 |
8.8 |
14.79 |
107.7 |
17.2 |
184 |
NA |
NA |
0.42 |
13.89 |
N |
N |
958.41 |
NA |
NA |
NA |
NA |
96 |
NA |
0 |
NA |
69 |
NA |
69 |
NA |
NA |
NA |
NA |
||
1919 |
54 |
M |
T |
3.98 |
35.3 |
11.9 |
6.06 |
88.7 |
13.7 |
249 |
51.3 |
35.3 |
3.11 |
2.14 |
N |
N |
68.48 |
NA |
NA |
NA |
NA |
45 |
NA |
0 |
NA |
15 |
NA |
32 |
NA |
NA |
NA |
NA |
||
1942 |
29 |
F |
T |
5.02 |
43 |
14.4 |
3 |
85.7 |
13.2 |
319 |
34 |
60 |
1.02 |
1.8 |
N |
N |
34.2 |
NA |
NA |
NA |
NA |
43 |
NA |
0 |
NA |
14 |
NA |
19 |
NA |
NA |
NA |
NA |
||
1945 |
64 |
F |
T |
2.85 |
30.7 |
10.5 |
5.6 |
107.7 |
NA |
216 |
14 |
82 |
0.78 |
4.59 |
N |
N |
NA |
NA |
NA |
NA |
65 |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
|||
1948 |
79 |
M |
T |
3.36 |
30.2 |
9.1 |
4.95 |
89.9 |
16.3 |
243 |
54 |
30.1 |
2.67 |
1.49 |
N |
N |
83.44 |
NA |
NA |
NA |
NA |
31 |
NA |
1 |
NA |
34 |
NA |
56 |
NA |
NA |
NA |
NA |
||
1955 |
71 |
F |
T |
4.82 |
42.9 |
14.1 |
8.92 |
89 |
14.9 |
37 |
30.8 |
53.5 |
2.75 |
4.77 |
N |
N |
381.6 |
NA |
NA |
NA |
NA |
72 |
NA |
0 |
NA |
6 |
NA |
80 |
NA |
NA |
NA |
NA |
||
1960 |
62 |
M |
GD |
2.21 |
26.8 |
8.6 |
9.99 |
121.3 |
16.1 |
143 |
12.9 |
81.1 |
1.29 |
8.1 |
N |
N |
753.3 |
NA |
66 |
NA |
NA |
55 |
NA |
93 |
NA |
0 |
NA |
10 |
NA |
NA |
NA |
NA |
||
1970 |
79 |
F |
T |
2.29 |
25 |
8.2 |
6.76 |
109.2 |
NA |
255 |
NA |
NA |
1.7 |
0 |
N |
N |
NA |
NA |
NA |
NA |
85 |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
|||
1973 |
59 |
M |
T |
3.03 |
32.9 |
10.7 |
13.67 |
108.6 |
16 |
248 |
6.6 |
88.7 |
0.9 |
12.13 |
N |
N |
NA |
NA |
50 |
50 |
NA |
30 |
NA |
NA |
NA |
30 |
NA |
NA |
NA |
NA |
NA |
|||
1974 |
33 |
M |
T |
2.4 |
26 |
8.6 |
2.8 |
108.3 |
19.9 |
214 |
8 |
83 |
0.22 |
2.32 |
NA |
N |
NA |
NA |
50 |
50 |
NA |
1 |
NA |
1 |
NA |
50 |
NA |
NA |
NA |
NA |
NA |
|||
1985 |
57 |
M |
T |
4.18 |
38 |
12.5 |
4.7 |
90.9 |
13.8 |
233 |
15 |
66 |
0.71 |
3.1 |
N |
N |
77.5 |
NA |
NA |
NA |
NA |
47 |
NA |
0 |
NA |
4 |
NA |
25 |
NA |
NA |
NA |
NA |
||
1999 |
65 |
M |
T |
4.6 |
39.6 |
13.9 |
12.43 |
86.1 |
12.7 |
375 |
22.9 |
65 |
2.85 |
8.08 |
N |
N |
NA |
NA |
NA |
76 |
NA |
2 |
NA |
51 |
NA |
82 |
NA |
NA |
NA |
NA |
NA |
|||
2009 |
64 |
F |
T |
4.79 |
40 |
13 |
8.16 |
83.5 |
14.4 |
265 |
38.9 |
48.3 |
3.17 |
3.94 |
N |
N |
149.72 |
NA |
NA |
NA |
NA |
74 |
NA |
0 |
NA |
44 |
NA |
38 |
NA |
NA |
NA |
NA |
||
2018 |
37 |
F |
T |
3.66 |
35.8 |
12.2 |
10.5 |
97.8 |
15.3 |
403 |
23.5 |
72.4 |
2.47 |
7.6 |
NA |
N |
NA |
NA |
50 |
50 |
NA |
65 |
NA |
1 |
NA |
50 |
NA |
NA |
NA |
NA |
NA |
|||
2020 |
36 |
M |
T |
4.47 |
40.3 |
13.2 |
3.36 |
90.2 |
14.7 |
80 |
3 |
29 |
0.1 |
0.97 |
N |
N |
33.756 |
NA |
NA |
NA |
NA |
10.5 |
NA |
13.3 |
NA |
2.9 |
NA |
34.8 |
NA |
NA |
NA |
NA |
||
2022 |
66 |
M |
T |
4.39 |
39.9 |
13.5 |
3.72 |
90.9 |
14.3 |
152 |
58.9 |
30.9 |
2.19 |
1.15 |
N |
Y |
MTX |
CR |
42.55 |
NA |
NA |
NA |
NA |
48 |
NA |
0 |
NA |
4 |
NA |
37 |
NA |
NA |
NA |
NA |
2024 |
63 |
F |
T |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
54 |
NA |
33 |
NA |
9 |
NA |
58 |
NA |
NA |
NA |
NA |
NA |
|||
2029 |
68 |
M |
T |
3.03 |
32.9 |
10.9 |
7.11 |
108.6 |
14.5 |
186 |
8.2 |
79.1 |
0.58 |
5.62 |
N |
N |
258.52 |
NA |
NA |
NA |
NA |
82 |
NA |
0 |
NA |
0 |
NA |
46 |
NA |
NA |
NA |
NA |
||
2037 |
44 |
F |
T |
3.72 |
34.5 |
12.4 |
5.2 |
92.7 |
13.5 |
248 |
19 |
66 |
0.99 |
3.43 |
N |
N |
41.16 |
NA |
NA |
NA |
NA |
56 |
NA |
0 |
NA |
2 |
NA |
12 |
NA |
NA |
NA |
NA |
||
2042 |
74 |
M |
T |
5.14 |
44.4 |
15.3 |
6.59 |
86.4 |
13.9 |
45 |
27.2 |
53.6 |
1.79 |
3.53 |
NA |
N |
208.27 |
NA |
NA |
NA |
NA |
70 |
NA |
59 |
NA |
1 |
NA |
12 |
NA |
NA |
NA |
NA |
||
2049 |
59 |
F |
T |
4.37 |
36.7 |
12 |
6 |
84 |
14.6 |
256 |
17.2 |
74.1 |
1.03 |
4.45 |
N |
N |
NA |
NA |
95 |
NA |
46 |
30 |
NA |
1 |
NA |
30 |
NA |
NA |
NA |
NA |
NA |
|||
2050 |
49 |
F |
T |
4.51 |
39.4 |
13.8 |
4.28 |
87.4 |
13.2 |
196 |
5.4 |
85.3 |
0.23 |
3.65 |
N |
N |
255.5 |
NA |
NA |
NA |
NA |
79 |
NA |
70 |
NA |
0 |
NA |
59 |
NA |
NA |
NA |
NA |
||
2051 |
70 |
F |
T |
2.49 |
27.6 |
9.4 |
7.97 |
110.8 |
14.2 |
305 |
26.8 |
68.7 |
2.14 |
5.48 |
N |
N |
416.48 |
NA |
NA |
NA |
NA |
84 |
NA |
0 |
NA |
0 |
NA |
76 |
NA |
NA |
NA |
NA |
||
2056 |
39 |
F |
T |
4.19 |
36.1 |
11.8 |
2.97 |
86.2 |
15.6 |
179 |
24 |
52.2 |
0.71 |
1.55 |
Y |
Y |
MTX |
CR |
41.85 |
NA |
NA |
NA |
NA |
47 |
NA |
24 |
NA |
1 |
NA |
27 |
NA |
NA |
NA |
NA |
2062 |
46 |
M |
T |
2.82 |
26.6 |
8.8 |
3.19 |
94.3 |
19.4 |
74 |
19 |
24.1 |
0.61 |
0.77 |
N |
Y |
Cyclosporine |
NR |
23.87 |
NA |
NA |
NA |
NA |
85 |
NA |
0 |
NA |
0 |
NA |
31 |
NA |
NA |
NA |
NA |
2074 |
57 |
F |
T |
4.18 |
36.9 |
12.4 |
5.67 |
88.3 |
14.2 |
235 |
16.7 |
73.9 |
0.95 |
4.19 |
N |
N |
201.12 |
NA |
NA |
NA |
NA |
66 |
NA |
0 |
NA |
8 |
NA |
48 |
NA |
NA |
NA |
NA |
||
2077 |
13 |
F |
T |
5.6 |
40 |
12.4 |
3.1 |
71.4 |
15.4 |
261 |
16 |
80 |
0.5 |
2.48 |
N |
Y |
MTX |
NE |
138.88 |
NA |
NA |
NA |
NA |
82 |
NA |
0 |
NA |
0 |
NA |
56 |
NA |
NA |
NA |
NA |
2080 |
48 |
M |
GD |
5 |
41.8 |
14.3 |
3.43 |
83.6 |
12.8 |
145 |
36.5 |
46.9 |
1.25 |
1.61 |
N |
N |
20.93 |
NA |
49 |
NA |
NA |
70 |
NA |
3 |
NA |
15 |
NA |
13 |
NA |
NA |
NA |
NA |
||
2081 |
46 |
M |
T |
2.35 |
24.3 |
8 |
2.72 |
103.4 |
21 |
347 |
30.5 |
58.8 |
0.83 |
1.6 |
N |
Y |
Cyclosporine |
NR |
86.4 |
NA |
NA |
NA |
NA |
73 |
NA |
1 |
NA |
73 |
NA |
54 |
NA |
NA |
NA |
NA |
2082 |
66 |
M |
T |
4.48 |
42.8 |
14.5 |
11.06 |
95.5 |
12.9 |
275 |
36.5 |
38.3 |
4.04 |
4.24 |
N |
N |
237.44 |
NA |
NA |
NA |
NA |
78 |
NA |
0 |
NA |
2 |
NA |
56 |
NA |
NA |
NA |
NA |
||
2083 |
65 |
M |
GD |
4.63 |
42.5 |
15.2 |
2.99 |
91.8 |
13.3 |
134 |
61.2 |
22.7 |
1.83 |
0.68 |
NA |
N |
20.4 |
NA |
38 |
NA |
NA |
44 |
NA |
30 |
NA |
54 |
NA |
NA |
NA |
NA |
NA |
NA |
||
2084 |
69 |
M |
T |
5.11 |
42.9 |
14.1 |
5.2 |
84 |
14 |
131 |
49.7 |
36.3 |
2.58 |
1.89 |
N |
N |
45.36 |
NA |
NA |
NA |
41 |
NA |
NA |
NA |
NA |
NA |
NA |
24 |
NA |
NA |
NA |
NA |
||
2090 |
56 |
F |
GD |
4.07 |
38.4 |
12.4 |
34.4 |
94.3 |
16.6 |
103 |
1.8 |
98.2 |
0.62 |
33.78 |
Y |
Y |
MTX |
PR |
50 |
NA |
50 |
3 |
NA |
50 |
NA |
1 |
NA |
50 |
NA |
NA |
NA |
NA |
NA |
|
2095 |
64 |
M |
T |
4.44 |
40.8 |
14.1 |
3.25 |
91.9 |
15.7 |
163 |
19.4 |
58.8 |
0.63 |
1.91 |
Y |
N |
95.5 |
NA |
NA |
NA |
NA |
56 |
NA |
0 |
NA |
1 |
NA |
50 |
NA |
NA |
NA |
NA |
||
2098 |
41 |
F |
T |
4.28 |
39.5 |
13.5 |
8.28 |
92.3 |
12.3 |
314 |
49.5 |
43.1 |
4.1 |
3.57 |
N |
N |
217.77 |
NA |
NA |
NA |
NA |
71 |
NA |
0 |
NA |
62 |
NA |
61 |
NA |
NA |
NA |
NA |
||
2103 |
52 |
F |
T |
4.51 |
40.9 |
13.9 |
4.63 |
90.7 |
13.4 |
208 |
29.7 |
59.8 |
1.38 |
2.77 |
N |
N |
132.96 |
NA |
NA |
NA |
NA |
68 |
NA |
2 |
NA |
2 |
NA |
48 |
NA |
NA |
NA |
NA |
||
2105 |
56 |
F |
T |
4.43 |
41.3 |
13.7 |
2.67 |
93.2 |
12.5 |
162 |
40.4 |
50.9 |
1.08 |
1.36 |
N |
N |
43.52 |
NA |
NA |
NA |
NA |
50 |
NA |
1 |
NA |
3 |
NA |
32 |
NA |
NA |
NA |
NA |
||
2107 |
66 |
F |
T |
4.1 |
40.5 |
13.8 |
4.3 |
98.8 |
14.1 |
183 |
15 |
64 |
0.65 |
2.75 |
N |
N |
NA |
NA |
74.2 |
NA |
21.2 |
50 |
NA |
NA |
NA |
50 |
NA |
NA |
NA |
NA |
NA |
|||
2108 |
51 |
M |
T |
4.08 |
42 |
14.1 |
5.22 |
102.9 |
14.3 |
223 |
60.2 |
28.5 |
3.14 |
1.49 |
N |
Y |
Cytoxan |
NE |
35.76 |
NA |
NA |
NA |
NA |
42 |
NA |
24 |
NA |
1 |
NA |
17 |
NA |
NA |
NA |
NA |
2110 |
34 |
F |
T |
3.77 |
37.6 |
12.6 |
2.66 |
99.7 |
15.2 |
144 |
32.7 |
57.5 |
0.87 |
1.53 |
N |
N |
70.38 |
NA |
NA |
NA |
NA |
73 |
NA |
0 |
NA |
0 |
NA |
46 |
NA |
NA |
NA |
NA |
||
2116 |
75 |
F |
GD |
2.03 |
25.1 |
7.9 |
6.48 |
123.6 |
17.6 |
322 |
67.1 |
25 |
4.35 |
1.62 |
N |
N |
77.76 |
NA |
23 |
NA |
NA |
70 |
NA |
1 |
NA |
1 |
NA |
48 |
NA |
NA |
NA |
NA |
||
2118 |
25 |
M |
T |
5.13 |
44.2 |
16 |
3.39 |
86.2 |
11.8 |
278 |
43.4 |
46.6 |
1.47 |
1.58 |
N |
N |
34.76 |
NA |
NA |
NA |
NA |
44 |
NA |
0 |
NA |
4 |
NA |
22 |
NA |
NA |
NA |
NA |
||
2119 |
69 |
F |
T |
3.06 |
31.7 |
10.4 |
3.27 |
103.6 |
15.4 |
54 |
13.2 |
79.5 |
0.43 |
2.6 |
N |
N |
114.4 |
NA |
NA |
NA |
NA |
83 |
NA |
0 |
NA |
2 |
NA |
44 |
NA |
NA |
NA |
NA |
||
2120 |
75 |
M |
T |
2.89 |
28.6 |
9.7 |
3.98 |
99 |
18.5 |
218 |
47.5 |
32.4 |
1.89 |
1.29 |
N |
N |
42.57 |
NA |
NA |
NA |
NA |
72 |
NA |
0 |
NA |
1 |
NA |
33 |
NA |
NA |
NA |
NA |
||
2122 |
71 |
M |
T |
4.24 |
39 |
13.9 |
3.39 |
92 |
13.6 |
124 |
26.9 |
51.3 |
0.91 |
1.74 |
N |
N |
41.76 |
NA |
NA |
NA |
NA |
44 |
NA |
1 |
NA |
0 |
NA |
24 |
NA |
NA |
NA |
NA |
||
2125 |
70 |
F |
T |
3.9 |
35.3 |
11.8 |
7.74 |
90.5 |
14 |
197 |
37.4 |
54.1 |
2.89 |
4.19 |
N |
N |
196.93 |
NA |
NA |
NA |
NA |
66 |
NA |
0 |
NA |
0 |
NA |
47 |
NA |
NA |
NA |
NA |
||
2126 |
74 |
M |
T |
2.29 |
24.5 |
8 |
6.31 |
107 |
16.6 |
405 |
1.8 |
78.6 |
0.11 |
4.96 |
N |
N |
367.04 |
NA |
NA |
NA |
NA |
84 |
NA |
74 |
NA |
0 |
NA |
71 |
NA |
NA |
NA |
NA |
||
2127 |
53 |
F |
T |
4.76 |
41.7 |
13.6 |
26.8 |
87.6 |
NA |
181 |
4 |
95 |
1.07 |
25.46 |
NA |
NA |
NA |
NA |
NA |
67 |
NA |
89 |
NA |
21 |
NA |
55 |
NA |
NA |
NA |
NA |
NA |
|||
2135 |
67 |
F |
T |
4.48 |
39.5 |
13.2 |
5.8 |
88.2 |
14.1 |
167 |
19.5 |
4.2 |
1.13 |
0.25 |
N |
Y |
MTX |
NE |
18 |
NA |
NA |
NA |
NA |
81 |
NA |
0 |
NA |
28 |
NA |
72 |
NA |
NA |
NA |
NA |
2139 |
60 |
F |
T |
4.44 |
41.3 |
14 |
3.79 |
93 |
15 |
173 |
25.3 |
63.6 |
0.96 |
2.41 |
N |
Y |
MTX |
NE |
154.24 |
NA |
NA |
NA |
NA |
71 |
NA |
0 |
NA |
1 |
NA |
64 |
NA |
NA |
NA |
NA |
2143 |
50 |
M |
T |
3.4 |
33.7 |
11.6 |
2.95 |
99.1 |
15.5 |
188 |
31.1 |
53.6 |
0.92 |
1.58 |
N |
N |
39.5 |
NA |
NA |
NA |
NA |
54 |
NA |
0 |
NA |
4 |
NA |
25 |
NA |
NA |
NA |
NA |
||
2144 |
66 |
M |
T |
2.72 |
28.8 |
9.8 |
11.56 |
105.9 |
16.5 |
219 |
9.5 |
85.6 |
1.1 |
9.9 |
N |
N |
277.2 |
NA |
NA |
NA |
NA |
96 |
NA |
0 |
NA |
0 |
NA |
28 |
NA |
NA |
NA |
NA |
||
2145 |
65 |
M |
T |
4.62 |
40.3 |
13.9 |
6.98 |
87.2 |
14.7 |
117 |
26.9 |
64.9 |
1.88 |
4.53 |
N |
N |
185.73 |
NA |
NA |
NA |
NA |
71 |
NA |
0 |
NA |
0 |
NA |
41 |
13 |
13 |
9 |
14 |
||
2146 |
67 |
F |
T |
4.63 |
42 |
14.5 |
7.09 |
90.7 |
14 |
265 |
52.8 |
37.1 |
3.74 |
2.63 |
N |
N |
123.61 |
NA |
NA |
NA |
NA |
26 |
NA |
0 |
NA |
49 |
NA |
47 |
NA |
NA |
NA |
NA |
||
2147 |
57 |
F |
T |
3.99 |
36.5 |
13 |
4.2 |
91.5 |
14.6 |
225 |
0.1 |
0.8 |
0.4 |
3.3 |
N |
Y |
MTX |
NR |
NA |
NA |
NA |
52 |
NA |
NA |
NA |
3 |
NA |
30 |
NA |
NA |
NA |
NA |
NA |
|
2151 |
81 |
M |
T |
3.51 |
33.8 |
11.5 |
10.1 |
96.3 |
17.1 |
72.1 |
18 |
72.1 |
1.82 |
7.28 |
N |
N |
414.96 |
NA |
NA |
NA |
NA |
92 |
NA |
0 |
NA |
0 |
NA |
57 |
NA |
NA |
NA |
NA |
||
2152 |
67 |
M |
T |
2.69 |
26.8 |
8.8 |
6.08 |
99.6 |
16.1 |
287 |
39.6 |
43.8 |
2.41 |
2.66 |
N |
N |
119.7 |
NA |
NA |
NA |
NA |
78 |
NA |
0 |
NA |
0 |
NA |
45 |
NA |
NA |
NA |
NA |
||
2153 |
61 |
F |
T |
5 |
44.4 |
14.7 |
7.31 |
88.8 |
15 |
184 |
4.5 |
31.2 |
0.33 |
2.28 |
N |
Y |
Cytoxan |
NE |
132.24 |
NA |
NA |
NA |
NA |
67 |
NA |
1 |
NA |
40 |
NA |
58 |
NA |
NA |
NA |
NA |
2157 |
77 |
M |
GD |
2.73 |
30.2 |
10.3 |
7.49 |
110.6 |
18.2 |
303 |
46.2 |
45 |
3.46 |
3.37 |
NA |
Y |
MTX |
NE |
181.98 |
NA |
54 |
NA |
NA |
82 |
NA |
0 |
NA |
0 |
NA |
54 |
NA |
NA |
NA |
NA |
2164 |
57 |
M |
T |
4.96 |
42.1 |
14.4 |
4.13 |
84.9 |
13.9 |
211 |
19.1 |
61 |
0.79 |
2.52 |
N |
N |
131.04 |
NA |
NA |
NA |
NA |
67 |
NA |
0 |
NA |
2 |
NA |
52 |
NA |
NA |
NA |
NA |
||
2165 |
51 |
F |
T |
4.27 |
40.7 |
13.2 |
3.75 |
95.3 |
16.5 |
311 |
57.4 |
26.1 |
2.15 |
0.98 |
N |
Y |
MTX |
CR |
27.44 |
NA |
NA |
NA |
NA |
51 |
NA |
0 |
NA |
10 |
NA |
28 |
NA |
NA |
NA |
NA |
2169 |
65 |
M |
T |
4.71 |
42.4 |
14.5 |
6.11 |
90 |
12.7 |
173 |
43 |
43.9 |
2.63 |
2.68 |
N |
N |
134 |
NA |
NA |
NA |
NA |
59 |
NA |
0 |
NA |
40 |
NA |
50 |
NA |
NA |
NA |
NA |
||
2173 |
55 |
F |
T |
3.33 |
34.9 |
12 |
2.9 |
104.8 |
15.4 |
294 |
25.5 |
62.1 |
0.74 |
1.8 |
N |
N |
75.6 |
NA |
NA |
NA |
NA |
78 |
NA |
0 |
NA |
0 |
NA |
42 |
NA |
NA |
NA |
NA |
||
2174 |
71 |
F |
T |
4.23 |
38.5 |
13.1 |
5.37 |
91 |
12.2 |
219 |
67 |
24 |
3.6 |
1.29 |
N |
N |
24.51 |
NA |
NA |
NA |
NA |
41 |
NA |
17 |
NA |
1 |
NA |
19 |
NA |
NA |
NA |
NA |
||
2180 |
53 |
F |
T |
4.08 |
36.6 |
13 |
6.45 |
89.7 |
17.1 |
93 |
24.8 |
69.5 |
1.6 |
4.48 |
N |
N |
120.96 |
NA |
NA |
NA |
NA |
93 |
NA |
0 |
NA |
3 |
NA |
27 |
NA |
NA |
NA |
NA |
||
2183 |
53 |
M |
T |
4.58 |
42.6 |
14.1 |
6.99 |
93 |
13 |
214 |
46.7 |
3.3 |
3.26 |
0.23 |
N |
N |
7.82 |
NA |
NA |
NA |
NA |
44 |
NA |
0 |
NA |
3 |
NA |
34 |
NA |
NA |
NA |
NA |
||
2186 |
56 |
F |
GD |
4.18 |
37.7 |
12 |
2.22 |
90.2 |
14 |
124 |
27.9 |
57.2 |
0.62 |
1.27 |
N |
N |
39.37 |
NA |
25 |
NA |
NA |
48 |
NA |
0 |
NA |
0 |
NA |
31 |
NA |
NA |
NA |
NA |
||
2188 |
56 |
M |
T |
4.89 |
42 |
13.8 |
8.29 |
85.9 |
14.1 |
223 |
5 |
74 |
0.41 |
6.13 |
N |
N |
337.15 |
NA |
NA |
NA |
NA |
81 |
NA |
0 |
NA |
0 |
NA |
55 |
NA |
NA |
NA |
NA |
||
2190 |
44 |
F |
T |
2.87 |
28.5 |
9.3 |
2.67 |
99.3 |
15.6 |
152 |
29.1 |
50.6 |
0.78 |
1.35 |
N |
N |
36.45 |
NA |
NA |
NA |
NA |
54 |
NA |
0 |
NA |
0 |
NA |
27 |
NA |
NA |
NA |
NA |
||
2191 |
52 |
F |
T |
3.84 |
35 |
11.3 |
2.7 |
91.1 |
15.2 |
156 |
1.5 |
78.9 |
0.04 |
2.13 |
N |
Y |
MTX |
NE |
29.82 |
NA |
NA |
NA |
NA |
68 |
NA |
0 |
NA |
0 |
NA |
14 |
NA |
NA |
NA |
NA |
2194 |
64 |
F |
T |
4.04 |
40.4 |
13.1 |
6.27 |
100 |
12.7 |
180 |
43.3 |
48.6 |
2.71 |
3.05 |
N |
N |
91.5 |
NA |
NA |
NA |
NA |
52 |
NA |
0 |
NA |
2 |
NA |
30 |
NA |
NA |
NA |
NA |
||
2200 |
56 |
M |
T |
3.87 |
37 |
13 |
3.09 |
95.6 |
NA |
73 |
7.5 |
82.8 |
0.23 |
2.56 |
N |
N |
NA |
NA |
NA |
NA |
96 |
50 |
NA |
NA |
NA |
30 |
NA |
NA |
NA |
NA |
NA |
|||
2202 |
38 |
M |
T |
5 |
43.3 |
14.7 |
12.75 |
86.6 |
13.9 |
122 |
27.4 |
61.9 |
3.49 |
7.89 |
N |
N |
552.3 |
NA |
NA |
NA |
NA |
80 |
NA |
0 |
NA |
0 |
NA |
70 |
9 |
0 |
5 |
7 |
||
2204 |
64 |
F |
T |
3.88 |
38.3 |
13.5 |
10.35 |
98.7 |
14.8 |
338 |
50.1 |
39.8 |
5.19 |
4.12 |
Y |
N |
140.08 |
NA |
NA |
NA |
NA |
44 |
NA |
0 |
NA |
20 |
NA |
34 |
NA |
NA |
NA |
NA |
||
2205 |
63 |
F |
T |
3 |
26 |
8.6 |
4.18 |
86.7 |
16.7 |
59 |
28.8 |
51.4 |
1.2 |
2.15 |
N |
N |
131.15 |
NA |
NA |
NA |
NA |
79 |
NA |
0 |
NA |
1 |
NA |
61 |
NA |
NA |
NA |
NA |
||
2207 |
66 |
M |
T |
4.54 |
43.4 |
14.6 |
7.51 |
95.6 |
14.8 |
134 |
NA |
NA |
0 |
0 |
Y |
N |
0 |
NA |
NA |
NA |
NA |
57 |
NA |
0 |
NA |
1 |
NA |
71 |
NA |
NA |
NA |
NA |
||
2208 |
48 |
M |
GD |
2.63 |
23.7 |
8 |
3.18 |
90.1 |
23.1 |
303 |
42.2 |
48.4 |
1.34 |
1.54 |
N |
N |
55.44 |
NA |
52 |
NA |
NA |
21 |
NA |
1 |
NA |
1 |
NA |
36 |
NA |
NA |
NA |
NA |
||
2214 |
65 |
F |
T |
5.07 |
42.7 |
14.5 |
3.2 |
84.2 |
14.8 |
168 |
30.6 |
53.7 |
0.98 |
1.72 |
N |
N |
NA |
NA |
91.4 |
NA |
45.4 |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
|||
2217 |
63 |
M |
T |
5.16 |
45.7 |
14.5 |
4.53 |
88.6 |
15.3 |
130 |
34.2 |
55.4 |
1.55 |
2.51 |
N |
N |
122.99 |
NA |
NA |
NA |
NA |
58 |
NA |
3 |
NA |
9 |
NA |
49 |
NA |
NA |
NA |
NA |
||
2225 |
54 |
F |
T |
5.02 |
40.2 |
13.9 |
7.7 |
80.1 |
14.1 |
241 |
13.3 |
64.6 |
1.02 |
4.97 |
N |
N |
258.44 |
NA |
NA |
NA |
NA |
81 |
NA |
0 |
NA |
0 |
NA |
52 |
NA |
NA |
NA |
NA |
||
2226 |
63 |
M |
T |
4.07 |
37.1 |
12.4 |
2.2 |
91.2 |
15.5 |
41 |
7.7 |
84.5 |
0.17 |
1.86 |
N |
N |
89.28 |
NA |
NA |
NA |
NA |
70 |
NA |
0 |
NA |
2 |
NA |
48 |
NA |
NA |
NA |
NA |
||
2228 |
60 |
F |
T |
5.34 |
43.7 |
14 |
12.99 |
81.8 |
16.5 |
136 |
8.7 |
80 |
1.13 |
10.39 |
N |
N |
862.37 |
NA |
NA |
NA |
NA |
78 |
NA |
0 |
NA |
0 |
NA |
83 |
NA |
NA |
NA |
NA |
||
2247 |
43 |
F |
GD |
4.56 |
39.1 |
13.3 |
10.74 |
85.7 |
14.7 |
47 |
22.3 |
63.4 |
2.4 |
6.81 |
Y |
N |
313.26 |
NA |
43 |
NA |
NA |
51 |
NA |
0 |
NA |
0 |
NA |
46 |
NA |
NA |
NA |
NA |
||
2249 |
63 |
M |
T |
4.76 |
41.3 |
13.3 |
6.24 |
86.8 |
16.5 |
124 |
23.1 |
56.1 |
1.44 |
3.5 |
Y |
N |
175 |
NA |
NA |
NA |
NA |
66 |
NA |
0 |
NA |
2 |
NA |
50 |
NA |
NA |
NA |
NA |
||
2251 |
71 |
M |
T |
2.83 |
24.5 |
8.1 |
7.09 |
86.6 |
15.7 |
135 |
10.5 |
71.9 |
0.74 |
5.1 |
N |
N |
331.5 |
NA |
NA |
NA |
NA |
94 |
NA |
0 |
NA |
0 |
NA |
65 |
NA |
NA |
NA |
NA |
Supplemental Table 6.
LGL_Type: LGL subtype diagnosed in patient
RBC to ALC column: Complete Blood Count (CBC) parameters of patient
Rheumatoid Arthritis: Presence of concurrent Rheumatoid Arthritis
Treatment_at_sequencing: Was the patient on LGL treatment (Methotrexate, Cyclophosphamide, Cyclophosphamide) at time of sample acquisition for sequencing?
Treatment: Type of treatment received by patient (MTX = Methotrexate).
Treatment Response: Response to treatment patient received at time of sequencing.
Complete response (CR) was defined as attainment of normal CBC (ANC > 1500/mm3; lymphocyte count < 4,000/mm3; hemoglobin > 11g/dl; platelet count > 100,000/mm3). In addition, LGL counts as determined by repeat flow cytometry needed to be in the normal range.
Partial response (PR) was defined as improvement in hematologic parameters in the absence of CR: 1) ANC > 500, as long as this represented 50% increase (treatment category a); 2) improvement in ANC > 50% over baseline (treatment category b); 3) increase in hemoglobin by > 1g/dl for at least four months duration (treatment category c); and 4) decrease in monthly transfusion requirements of > 50% for at least four months duration (treatment category d).
No response (NR) was defined as lack of CR/PR.
Progressive disease (PD) was defined as worsening of hematologic parameters in patients previously achieving PR/CR.
Non-evaluable (NE): Lack of data to assess response, or patients who were treated for non-LGL.
LGL absolute count: Absolute number of LGL cells in (k/µL) calculated based on ALC counts and CD3+ CD16+ or CD3+ CD57+, which ever is higher.
TCRgdpos to CD94: Flow cytometry values of patient peripheral blood sample
NA values: Not available
This activity is intended for hematologists, oncologists, geneticists, and other clinicians caring for patients with large granular lymphocyte (LGL) leukemia.
The goal of this activity is for the learner to be better able to describe the landscape of nonsynonymous somatic variants in LGL leukemia exomes, potential differences of these mutational profiles across LGL leukemia subtypes, and potential associations of mutational groups with clinical features; shared and unique molecular characteristics of T and GD LGL leukemia subtypes based on putative driver genes; and the transcriptomic and somatic mutational landscape of STAT3 mutations compared with wild type to identify their distinct molecular signatures and STAT3-mutation--specific clinical associations, according to the most extensive paired exome and transcriptome study of LGL leukemia to date (N=105: 93 T-LGL and 12 GD-LGL subtypes).
Upon completion of this activity, participants will:
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