Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84868
Gene Symbol: HAVCR2
HAVCR2
0.530 GeneticVariation disease BEFREE In conclusion, individuals harboring biallelic <i>HAVCR2</i> (TIM3) germline mutations were highly susceptible to sporadic SPTCL, which was also associated with clonal somatic mutations. 30792187 2019
Entrez Id: 84868
Gene Symbol: HAVCR2
HAVCR2
0.530 GeneticVariation disease BEFREE Our findings highlight HLH-SPTCL as a new genetic entity and identify mutations causing TIM-3 alterations as a causative genetic defect in SPTCL. 30374066 2018
Entrez Id: 84868
Gene Symbol: HAVCR2
HAVCR2
0.530 Biomarker disease CTD_human While HLH-SPTCL patients with mutant TIM-3 benefit from immunomodulation, therapeutic repression of the TIM-3 checkpoint may have adverse consequences. 30374066 2018
Entrez Id: 84868
Gene Symbol: HAVCR2
HAVCR2
0.530 GermlineCausalMutation disease ORPHANET While HLH-SPTCL patients with mutant TIM-3 benefit from immunomodulation, therapeutic repression of the TIM-3 checkpoint may have adverse consequences. 30374066 2018
Entrez Id: 84868
Gene Symbol: HAVCR2
HAVCR2
0.530 GeneticVariation disease BEFREE Specimens from the total of 90 CTCL patients, including mycosis fungoides (MF, <i>n</i> = 37), lymphomatoid papulosis (LyP, <i>n</i> = 36), primary cutaneous anaplastic large cell lymphoma (pcALCL, <i>n</i> = 4), subcutaneous panniculitis-like T-cell lymphoma (SPTCL <i>n</i> = 13), and 10 patients with inflammatory lichen ruber planus (LRP), were analyzed by immunohistochemistry (IHC), immunofluorescence (IF), quantitative PCR, and/or liquid chromatography-tandem mass spectrometry (LC-MS/MS). 28405495 2017
Entrez Id: 4684
Gene Symbol: NCAM1
NCAM1
0.040 Biomarker disease BEFREE This article illustrates a case of a PTCL-NOS in which tumor cells have an activated cytotoxic TCRαβ+CD3+CD4+CD56+ T-cell phenotype and histopathologic features of subcutaneous panniculitis-like T-cell lymphoma, leading to a fatal outcome. 31595546 2020
Entrez Id: 4684
Gene Symbol: NCAM1
NCAM1
0.040 Biomarker disease BEFREE Immunophenotypically, some significant differences were found in CD8 and CD56 positivity between our patient series of CTCL-γδ patients with SPTCL features and SPTCL-γδ patients described in the previous literature. 24815502 2014
Entrez Id: 4684
Gene Symbol: NCAM1
NCAM1
0.040 AlteredExpression disease BEFREE Expression of CD56 is associated with a poor prognosis in subcutaneous panniculitis-like T-cell lymphoma and blastic natural killer cell lymphoma. 17052504 2006
Entrez Id: 4684
Gene Symbol: NCAM1
NCAM1
0.040 Biomarker disease BEFREE CD56 was negative in seven of nine alphabeta SPTCLs and inconclusive in the other two. 9669350 1998
Entrez Id: 943
Gene Symbol: TNFRSF8
TNFRSF8
0.030 Biomarker disease BEFREE Forty-nine cases (41 patients) with CD8+ CTCLs/LPDs were examined, including CD8+ mycosis fungoides (MF) (n = 14), aggressive epidermotropic CD8+ cytotoxic T-cell lymphoma (AETCL) (n = 8), subcutaneous panniculitis-like T-cell lymphoma (SPTCL) (n = 7), CD30+ LPDs (n = 6), primary cutaneous γδ T-cell lymphoma (GDTCL) (n = 6), and others (n = 8). 31355940 2020
Entrez Id: 943
Gene Symbol: TNFRSF8
TNFRSF8
0.030 Biomarker disease BEFREE The case was initially diagnosed as SPTCL but was reconsidered as ALK+ ALCL when the incidental finding of CD30 positivity on a subsequent biopsy prompted an ALK immunostain, which turned out to be positive in the neoplastic T-cells. 21763080 2011
Entrez Id: 943
Gene Symbol: TNFRSF8
TNFRSF8
0.030 Biomarker disease BEFREE Nine of 17 cases showed the characteristic clinical and histological features as well as clinical behavior of well defined types of CTCL, such as mycosis fungoides (2 cases), pagetoid reticulosis (2 cases), lymphomatoid papulosis (2 cases), and CD30+ large T cell lymphoma (2 cases), all of which usually express a CD4+ T cell phenotype, and 1 case of subcutaneous panniculitis-like T cell lymphoma. 10433941 1999
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
0.020 Biomarker disease BEFREE Remarkably, abnormal FDG uptake disappeared entirely on follow-up PET/CT, demonstrating its utility in the evaluations of responses to emerging cyclosporine A-based treatments in subcutaneous panniculitis-like T-cell lymphoma. 31833924 2020
Entrez Id: 3563
Gene Symbol: IL3RA
IL3RA
0.020 GeneticVariation disease BEFREE Skin biopsies of cutaneous lupus erythematosus (CLE, n = 18), lupus erythematosus panniculitis (LEP, n = 17), mycosis fungoides (MF, n = 25) and subcutaneous panniculitis-like T cell lymphoma (SPTCL, n = 9) were retrospectively reviewed and immunostained with CD123. 30597607 2019
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
0.020 Biomarker disease BEFREE FDG PET/CT can clarify the diagnosis in suspicious relapsed SPTCL, avoiding performing skin biopsy again. 30431571 2018
Entrez Id: 3563
Gene Symbol: IL3RA
IL3RA
0.020 Biomarker disease BEFREE Nineteen and 17 examples of SPTCL and LE panniculitis, respectively, were evaluated for periadipocytic rimming by lymphocytes expressing Ki-67, CD8, and βF1 and for attributes associated with LE, including clusters of CD123-positive cells. 29742552 2018
Entrez Id: 7072
Gene Symbol: TIA1
TIA1
0.020 AlteredExpression disease BEFREE Although the remaining controls expressed TIA-1 and perforin, in keeping with their cytotoxic T or natural killer (NK) cell origin, histological and other immunophenotypical features allowed distinction from SCPTCL. 9563791 1998
Entrez Id: 7072
Gene Symbol: TIA1
TIA1
0.020 AlteredExpression disease BEFREE Cytolytic granule-associated proteins were expressed by all SPTCLs (11 of 11 were TIA-1+, 4 of 4 were perforin+). 9669350 1998
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
0.010 GeneticVariation disease BEFREE Variants of interest identified include 1 missense mutation in ARID1B in 1 case of SPTCL. 31702703 2020
Entrez Id: 6962
Gene Symbol: TRBV20OR9-2
TRBV20OR9-2
0.010 GeneticVariation disease BEFREE A 10-year retrospective study of 18 patients diagnosed with SPTL was thoroughly reviewed according to clinicopathology, immunophenotype, and T-cell receptor (TCR) gene rearrangement. 30350476 2019
Entrez Id: 3553
Gene Symbol: IL1B
IL1B
0.010 Biomarker disease BEFREE Both variants induce protein misfolding and abrogate TIM-3's plasma membrane expression, leading to persistent immune activation and increased production of inflammatory cytokines, including tumor necrosis factor-α and interleukin-1β, promoting HLH and SPTCL. 30374066 2018
Entrez Id: 4609
Gene Symbol: MYC
MYC
0.010 AlteredExpression disease BEFREE Our work demonstrates that MYC expression levels differ between these 2 histologic mimics and suggests that this important oncoprotein may play a role in the pathogenesis of SPTCL. 28800143 2017
Entrez Id: 57381
Gene Symbol: RHOJ
RHOJ
0.010 Biomarker disease BEFREE We report four pediatric cases that demonstrate the heterogeneity of each disease and show that PCGD-TCL in children can have an indolent course, whereas SPTCL can behave aggressively. 26146844 2015
Entrez Id: 64061
Gene Symbol: TSPYL2
TSPYL2
0.010 Biomarker disease BEFREE Consequently, there was a strikingly significant difference in overall survival among SPTCL, CTCL-γδ with SPTCL features and CTCL-γδ without SPTCL features (P = 0.0005). 24815502 2014
Entrez Id: 238
Gene Symbol: ALK
ALK
0.010 Biomarker disease BEFREE The case was initially diagnosed as SPTCL but was reconsidered as ALK+ ALCL when the incidental finding of CD30 positivity on a subsequent biopsy prompted an ALK immunostain, which turned out to be positive in the neoplastic T-cells. 21763080 2011