TABLE 2.
Candidate genes | Sample size and typea | Methodb | Diagnostic value/outcome | Ref |
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T-plastin (PLS3) | PBMCs: 18 SzS, 9 Th2-skewed controls | Microarray, qRT-PCR | Increased 14-fold in SzS compared with controls based on array and 479-fold based on qRT-PCR | [95] |
PBMCs: 49 SzS, 69 HD, 3 IE | qRT-PCR | Increased 520-fold in SzS compared with controls | [56] | |
PBMCs: 10 SzS, 10 HD | Microarray, qRT-PCR | 0.89 AUC for discrimination between SzS and controls with sensitivity 0.82 and specificity 0.91 | [96] | |
CD4+ T cells: 81 SzS, 12 HD | qRT-PCR | Increased 145-fold in SzS compared with HD samples and positive in 87% of SzS patients | [57] | |
CD4+ T cells: 9 SzS, 4 HD; skin biopsies: 2 SzS, 4 MF, 9 psoriasis | qRT-PCR, IHC | Increased 270-fold in SzS compared with controls, PLS3 detected in infiltrate on MF/SzS biopsy but not psoriasis | [97] | |
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JUNB | Peripheral blood ± skin biopsies: 26 SzS, 13 MF | Real-time PCR, IHC | 26% of SzS/MF had increased copy number of JUNB, 91% of SzS/MF had strong nuclear staining of JUNB | [71] |
PBMCs: 18 SzS, 9 Th2-skewed controls | Microarray, qRT-PCR | Increased fivefold in SzS compared with controls based on array and 10-fold based on qRT-PCR | [95] | |
PBMCs: 49 SzS, 69 HD, 3 IE | qRT-PCR | Increased 4.3-fold in SzS compared with controls | [56] | |
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GATA3 | PBMCs: 49 SzS, 69 HD, 3 IE | qRT-PCR | Increased 6.4-fold in SzS compared with controls | [56] |
PBMCs: 18 SzS, 9 Th2-skewed controls | Microarray, qRT-PCR | Increased 2.5-fold in SzS compared with controls based on array and sevenfold based on qRT-PCR | [95] | |
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SATB1 | CD4+CD7− T cells: 9 SzS; CD4+ T cells: 9 HD | Microarray, qRT-PCR, WB | Decreased 4.2-fold in SzS samples compared with controls based on array, confirmed by qRT-PCR and WB | [98] |
PBMCs: 10 SzS; CD4+ T cells: 5 IE, 3 HD | Microarray, qRT-PCR | Decreased 4.6-fold in SzS compared with controls based on array, confirmed by qRT-PCR | [99] | |
Skin biopsies: 90 MF, 19 benign lesional skin | IHC | Higher expression of SATB1 in MF compared with controls, and SATB1 higher in patients with lymph node involvement | [100] | |
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STAT4 | PBMCs: 49 SzS, 69 HD, 3 IE | qRT-PCR | Decreased 4.7-fold in SzS compared with controls | [56] |
PBMCs: 18 SzS, 9 Th2-skewed controls | Microarray, qRT-PCR | Decreased 3.7-fold in SzS compared with controls based on array and 4.5-fold based on qRT-PCR | [95] | |
Skin biopsies: 60 MF/SzS, 19 benign lesional skin, 6 HD, 19 benign lesional skin | qRT-PCR, WB | STAT4 was expressed in MF/SzS lesional skin but not normal skin or benign lesions, loss of STAT4 was associated with progressive disease | [101] | |
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Twist1 | PBMCs: 10 SzS; CD4+ T cells: 5 IE, 3 HD; skin biopsies: 9 MF, 24 benign lesions | Microarray, qRT-PCR | Increased 19.8-fold in SzS compared with controls based on array, Overexpressed in all SzS and 4/9 MF samples by qRT-PCR but not control lesional skin | [99] |
CD4+ T cells: 81 SzS, 12 HD | qRT-PCR | Increased 150-fold in SzS compared with HD samples and positive in 91% of SzS patients | [57] | |
Skin biopsies: 68 MF/SzS, 3 HD, 3 psoriasis, 3 SCC; CD4+ T cells: 5 SzS | IHC, qRT-PCR | Twist was found in 12.5% of T1, 33.3% of T2, 50.0% of T3, 84.6% of T4 biopsies by IHC. All SzS and no HD had expression of Twist by qRT-PCR in CD4+ T cells | [102] | |
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Fas | CD4+ T cells: 16 MF, 4 SzS, 25 benign lesions, 15 HD | Flow cytometry | Fas expression was lower in MF/SzS compared with controls, Fas increased after response to treatment | [103] |
Skin biopsies: 23 MF, 10 LyP, 10 CD30+ LTCL, 9 CD30-LTCL | IHC | Fas expression present in 100% of plaque-stage MF, LyP and CD30+ LTCL, but only 33% of tumor-stage MF. Decrease in Fas was observed with progression. | [104] | |
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TOX | CD4+ cells: 9 SzS, 4 HD; skin biopsies: 2 SzS, 4 MF, 9 psoriasis | qRT-PCR, IHC | Increased sevenfold in SzS compared with HD on qRT-PCR, Strong nuclear staining of TOX on IHC in MF/SzS but not psoriasis | [97] |
Skin biopsies: 21 MF, 15 benign lesional skin, 21 HD | Microarray, qRT-PCR, IF, IHC | Increased 10.3-fold in MF compared with HD, confirmed with qRT-PCR, highly specific staining of TOX in MF biopsies on IHC and IF | [105] |
Sample type abbreviations include Sézary syndrome (SzS), mycosis fungoides (MF), inflammatory erythroderma (IE), healthy donors (HD), peripheral blood mononuclear cells (PBMCs), lymphomatoid papulosis (LyP), large T-cell lymphoma (LTCL).
Methodology abbreviations include quantitative reverse transcription polymerase chain reaction (qRT-PCR), immunohistochemistry (IHC), Western blotting (WB), immunofluorescence (IF).