Abstract

The BCR-ABL1 p190 fusion transcript is the most frequent variant observed in Philadelphia-positive (Ph+) acute lymphoblastic leukemia (ALL). Qualitative-PCR and real-time quantitative PCR are the currently used methods to monitor minimal residual disease (MRD) in Ph+ ALL patients; for the latter, full standardization and an international quality validation are lacking. Here, we developed a droplet digital PCR (ddPCR) assay for MRD monitoring in p190+ ALL cases. The analytical performance was assessed by the limit-of-detection determination, showing a reliability, sensitivity, and precision of the assay of up to 0.001%. Comparison of results obtained with qualitative PCR and ddPCR in 117 follow-up samples from 16 of 26 Ph+ ALL patients showed discordant results in 27% of cases (32 of 117). Real-time quantitative PCR analysis of 19 ddPCR-positive samples with a low tumor burden failed to provide quantitative results in 63% of cases (12 of 19). These results highlight that in p190+ ALL the ddPCR method has a sufficient analytical performance for very low MRD monitoring and for predicting molecular relapse several months before hematologic relapse. In conclusion, MRD monitoring by ddPCR may better stratify Ph+ ALL patients at risk of disease progression.

Autore Pugliese

• Albano Francesco , Specchia Giorgina , Anelli Luisa

Tutti gli autori

• MINERVINI A.;ZAGARIA A.;BRUNETTI C.;CUMBO C.;MINERVINI C.F.;ALBANO F.;SPECCHIA G.;TOTA G.;IMPERA L.;ANELLI L.;COCCARO N.;CASIERI P.;ORSINI P.

Titolo volume/Rivista

Non Disponibile

Anno di pubblicazione

2018

ISSN

1525-1578

ISBN

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Numero di citazioni Wos

Nessuna citazione

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Numero di citazioni Scopus

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Settori ERC

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