Multiregional sequencing and circulating tumour DNA analysis provide complementary approaches for comprehensive disease profiling of small lymphocytic lymphoma

Riccardo Moia, Chiara Favini, Valentina Ferri, Gabriela Forestieri, Lodovico Terzi Di Bergamo, Mattia Schipani, Sruthi Sagiraju, Annalisa Andorno, Silvia Rasi, Ramesh Adhinaveni, Donatella Talotta, Wael Al Essa, Lorenzo De Paoli, Gloria Margiotta Casaluci, Andrea Patriarca, Renzo L. Boldorini, Davide Rossi, Gianluca Gaidano

Risultato della ricerca: Contributo su rivistaArticolo in rivistapeer review

Abstract

We aimed at molecularly dissecting the anatomical heterogeneity of small lymphocytic lymphoma (SLL), by analysing a cohort of 12 patients for whom paired DNA from a lymph node biopsy and circulating cells, as well as plasma-circulating tumour DNA (ctDNA) was available. Notably, the analyses of the lymph node biopsy and of circulating cells complement each other since a fraction of mutations (20·4% and 36·4%, respectively) are unique to each compartment. Plasma ctDNA identified two additional unique mutations. Consistently, the different synchronous sources of tumour DNA complement each other in informing on driver gene mutations in SLL harbouring potential prognostic and/or predictive value.

Lingua originaleInglese
pagine (da-a)108-112
Numero di pagine5
RivistaBritish Journal of Haematology
Volume195
Numero di pubblicazione1
DOI
Stato di pubblicazionePubblicato - ott 2021

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