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The Desmoid Tumor Research Foundation

April 2018

Proof of concept: prognostic value of the plasmatic concentration of circulating cell free DNA in desmoid tumors using ddPCR

Author Information

Macagno N(#)(1)(2), Fina F(#)(1)(3), Penel N(4), Bouvier C(1)(2), Nanni I(5), Duffaud F(6)(7), Rouah R(5), Lacarelle B(8), Ouafik L(5), Bonvalot S(9), Salas S(6)(7).

(1)Department of Pathology, Assistance Publique Hopitaux de Marseille Timone Hospital, Marseille, France. (2)Aix-Marseille University, Medical Faculty, CRO2, UMR 911 (Equipe IV), Marseille, France. (3)ID-Solutions, Grabels, France. (4)Department of General Oncology, Oscar Lambret Center, Lille, France. (5)Department of Molecular Oncology, Assistance Publique Hopitaux de Marseille, Marseille, France. (6)Department of Oncology, Assistance Publique Hopitaux de Marseille Timone Hospital, Marseille, France. (7)Aix-Marseille University, Medical Faculty, Marseille, France. (8)Department of Medical Biology, Assistance Publique Hopitaux de Marseille Timone Hospital, Marseille, France. (9)Department of Surgery, Institut Curie, PSL Univeristy, Paris, France. (#)Contributed equally

Publication

Oncotarget

Summary

Since desmoid tumors (DT) exhibit an unpredictable clinical course, with stabilization and/or spontaneous regression, an initial "wait-and-see" policy is the new standard of care-thus, the actual challenge is to identify early factors of progression. We present a method of detection of CTNNB1 mutations using a targeted digital droplet PCR (ddPCR) on cell-free DNA (cfDNA) extracted from blood samples of 31 DT patients. Furthermore, we analyzed the correlation between DT evolution and plasmatic concentration of total and mutated cfDNA at the time of diagnosis. Our results open the perspective of using cfDNA as a biomarker to predict prognosis at the time of diagnosis and assess tumor dynamics to optimize the treatment strategy.

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