TCRγ-chain gene rearrangement by PCR-based GeneScan:: Diagnostic accuracy improvement and clonal heterogeneity analysis in multiple cutaneous T-Cell lymphoma samples
TCRγ-chain gene rearrangement by PCR-based GeneScan:: Diagnostic accuracy improvement and clonal heterogeneity analysis in multiple cutaneous T-Cell lymphoma samples
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DOI:
10.1038/sj.jid.5701109
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发表时间:
2008-04-01
影响因子:
6.5
通讯作者:
Bernengo, Maria G.
中科院分区:
文献类型:
--
作者:
Ponti, Renata;Fierro, Maria T.;Bernengo, Maria G.
Cutaneous T-cell lymphomas are a heterogeneous group of lymphomas where the tumor population emerges within a multiple subclone pattern ("clonal heterogeneity''). PCR analysis has been shown to be useful in the diagnosis of mycosis fungoides (MF) and Sezary Syndrome (SS). Focusing the attention on clonal heterogeneity, the efficacy of the multiplex/heteroduplex (HD) PCR and the GeneScan (GS) capillary electrophoresis analysis was compared in the early diagnosis of MF/SS, using a multiple sample approach. Indeed, GS demonstrated TCRg gene rearrangement (GR) in all the 57 SS (100%) and in 123/146 (84%) of the MF samples, whereas the multiplex/HD PCR was less sensitive. An increase in clonality was observed in connection with both a worsening of the cutaneous disease (79% T1/T2; 100% T3/T4) and an increase in the histopathological score (HS < 5, 76%; HS >= 5, 94%). Clonal heterogeneity with adjunctive reproducible skin TCR gamma-GRs was also observed. "Clonal instability,'' with different GRs, was present in a small percentage of patients. Therefore, it can be concluded that GS analysis in TCR gamma-GR is able to improve diagnosis in MF/SS patients and the multiple sample approach is helpful for a correct interpretation of clonal patterns in skin lesions, especially in early-stage MF and in SS skin/blood samples.