학술논문
Multiregional sequencing and circulating tumour DNA analysis provide complementary approaches for comprehensive disease profiling of small lymphocytic lymphoma.
Document Type
Article
Author
Moia, Riccardo; Favini, Chiara; Ferri, Valentina; Forestieri, Gabriela; Terzi Di Bergamo, Lodovico; Schipani, Mattia; Sagiraju, Sruthi; Andorno, Annalisa; Rasi, Silvia; Adhinaveni, Ramesh; Talotta, Donatella; Al Essa, Wael; De Paoli, Lorenzo; Margiotta Casaluci, Gloria; Patriarca, Andrea; Boldorini, Renzo L.; Rossi, Davide; Gaidano, Gianluca
Source
Subject
*DNA analysis
*CIRCULATING tumor DNA
*LYMPHOMAS
*GENETIC mutation
*LYMPH nodes
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Language
ISSN
0007-1048
Abstract
Summary: 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. [ABSTRACT FROM AUTHOR]