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Reliability of immune receptor rearrangements as genetic markers for minimal residual disease monitoring

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NAZAROV VI MINERVINA AA KOMKOV AY POGORELYY MV MASCHAN MA OLSHANSKAYA YV ZVYAGIN IV CHUDAKOV Dmitriy LEBEDEV YB MAMEDOV Ilgar

Rok publikování 2016
Druh Článek v odborném periodiku
Časopis / Zdroj Bone Marrow Transplantation
Fakulta / Pracoviště MU

Středoevropský technologický institut

Citace
www http://www.nature.com/bmt/journal/v51/n10/pdf/bmt2016148a.pdf
Doi http://dx.doi.org/10.1038/bmt.2016.148
Obor Onkologie a hematologie
Klíčová slova T-CELL-RECEPTOR; ACUTE LYMPHOBLASTIC-LEUKEMIA; TIME QUANTITATIVE PCR; REPERTOIRES; IMMUNOGLOBULIN; DEEP; RELAPSE
Popis Detection of minimal residual disease (MRD) is a powerful prognostic tool in many hematological malignancies including ALL. Several groups of markers are widely used to monitor the concentration of a malignant clone including the detection of 'clonal B-cell (BCR) or T-cell (TCR) gene receptor rearrangements in ALL. Identification of a clonal rearrangement specific for the malignant clone, which usually constitutes from 20 to 90% in the initial bone marrow sample is a relatively straightforward task. Tracking this rearrangement after therapy is more tricky as the concentration of malignant cells in the sample can be very low. Recent progress in MRD detection based on quantitative real-time PCR (qPCR) and highthroughput sequen- cing (HTS) allows to detect malignant clones present at a concentration of one per 10 and even per 10 cells. Although MRD detection is claimed to be able to accurately predict the outcomes of leukemia therapy in different clinical settings, the value of this information is sometimes corrupted by false-positive and false-negative results of MRD measurement. One of the potential causes of false-positive results is discussed below.

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