Sensitivity And Reproducibility Of Conventional Qualitative And Quantitative Pcr Assays For Detection Of The T(14;18)(Q32;Q21) Chromosomal Translocation In Biopsy Material From Patients With Follicular Lymphoma

INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE(2009)

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摘要
Follicular lymphoma (FL) is characterized by the t(14;18)(q32;q21) chromosomal translocation which can be detected by polymerase chain reaction (PCR) in approximately 70% of cases. The aim of our retrospective study was to evaluate the sensitivity and the reproducibility of both conventional qualitative and quantitative PCR assays for detection of the t(14;18)(q32;q21) chromosomal translocation in biopsy material. Fifty-seven formal in- fixed, paraffin-embedded tumor lymph node (LN) specimens from 50 patients with FL were included in the study. Qualitative PCR was performed with primer sets specific for the MBR, far3'-MBR and the mcr regions, respectively. Quantitative PCR was performed using the LightCycler (R) instrument and the LightCyclet (R) - t(14;1 8) Quantification Kit (MBR). The overall detection rate of the t(14;18) in our study (52.6%) was in accordance with the literature. Of the t(14;18)-positive cases, 49.1% had breakpoints within the MBR and only 3.5% had breakpoints within the mcr. The most sensitive method was LightCycler-based PCR with a detection rate of 47.4%, followed by MBR1.2 assay (43.9%). We observed good agreement between qualitative MBR1.2 and quantitative LightCycler-based assay with a slightly higher detection rate of the quantitative method. The sensitivities of both methods were in accordance with results from other studies. Since LightCycler-based assay detects only breakpoints within the MBR, qualitative PCR should be employed in routine diagnostic settings for detection of breakpoints within the mcr and far3'-MBR regions.
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关键词
follicular lymphoma, t(14,18) chromosome translocation, BCL-2 rearrangement, polymerase chain reaction, paraffinembedded tissue
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