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Page 16 of 27 J Cancer Metastasis Treat 2019;5:5 I http://dx.doi.org/10.20517/2394-4722.2018.108

22. Liquid biopsy applications in lymphomas

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Fary Diop , Riccardo Moia , Chiara Favini , Clara Deambrogi , Ahad A. Kodipad , Sruthi
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Sagiraju , Ramesh Adhinaveni , Abdurraouf M. Mahmoud , Syed Hasan Mosavi , Sreekar
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Kogila , Simone Favini , Denise Peroni , Marta Castagno , Silvia Rasi , Valeria Spina , Andrea
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Patriarca , Gloria Margiotta Casaluci , Luca Nassi , Davide Rossi , Gianluca Gaidano 1
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1 Division of Hematology, Department of Translational Medicine, Amedeo Avogadro University of Eastern
Piedmont, Novara 28100, Italy.
2 Oncology Institute of Southern Switzerland, and Laboratory of Experimental Hematology, Institute of
Oncology Research, Bellinzona 6500, Switzerland.
Liquid biopsy is an emerging tool across many types of cancers. This technique consists in the analysis of
biomarkers released by tumor cells in the peripheral blood. In lymphomas, the most studied biomarker
is circulating tumor DNA (ctDNA), shed into the bloodstream (e.g., plasma) by tumor cells undergoing
apoptosis.
Analysis of plasma ctDNA analysis allows serial monitoring of the disease genotype over time and the
assessment of the entire tumor heterogeneity at different anatomic sites. Consistently, ultra-deep targeted
next generation sequencing of ctDNA from diffuse large B-cell lymphoma (DLBCL) patients correctly
identified DLBCL-associated mutations. Moreover, plasma ctDNA genotyping also allows for the recovery of
mutations that are undetectable in the tissue biopsy, conceivably because, due to spatial tumor heterogeneity,
they are restricted to clones that are anatomically distant from the biopsy site. In Hodgkin lymphoma (HL),
the rarity of neoplastic cells in the biopsy has so far limited genomic studies. By using a highly sensitive and
robust deep next-generation sequencing approach for ctDNA, the current knowledge of HL has been refined.
In addition, similarly to DLBCL, also in HL a fraction of mutations has been detected only in ctDNA but not
in the tissue biopsy.

Regarding disease monitoring during the course of treatment, CT/PET scans do not capture all patients
designated to relapse. This gap may be filled by ctDNA analysis providing higher sensitivity and ease of
sample collection in a radiation free manner. In DLBCL, the 2.5-log drop of ctDNA concentration after two
cycles of treatment is an independent predictor of response. Similarly, in HL the 2-log drop of ctDNA after
two courses of chemotherapy associated with complete response and complemented the results obtained
by the CT/PET scan. Incorporation of both CT/PET and ctDNA monitoring into clinical trials may guide
future personalized risk-directed approaches of treatment.

23. BIRC3 mutations stratify a poor prognostic subgroup in Fludarabine-Cyclophosphamide-
Rituximab treated chronic lymphocytic leukemia

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Riccardo Moia , Fary Diop , Chiara Favini , Elisa Spaccarotella , Lorenzo De Paoli , Alessio
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Bruscaggin , Valeria Spina , Lodovico Terzi-di-Bergamo , Francesca Arruga , Chiara
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Tarantelli , Clara Deambrogi , Simone Favini , Ahad A. Kodipad , Sruthi Sagiraju , Denise
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Peroni , Francesca R. Mauro , Ilaria Del Giudice , Francesco Forconi , Agostino Cortelezzi ,
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Francesco Zaja , Carlo Visco , Annalisa Chiarenza , Gian Matteo Rigolin , Roberto Marasca ,
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Marta Coscia , Omar Perbellini , Alessandra Tedeschi , Luca Laurenti , Marina Motta ,
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Francesco Bertoni , Giovanni Del Poeta , Antonio Cuneo , Valter Gattei , Silvia Deaglio , Mark
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Catherwood , Robin Foà , Gianluca Gaidano *, Davide Rossi *
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1,