Luisa Lorenzi, Torsten Haferlach, Luigi Mori, Matteo Simbeni, Wencke Walter, Piera Balzarini, Manja Meggendorfer, Claudia Döring, Silvia Lonardi, Mattia Bugatti, Claudio Agostinelli, Jay Mehta, Anita Borges, Abbas Agaimy, Ingrid Simonitsch-Klupp, José Cabeçadas, Elias Campo, Stefano Aldo Pileri, Fabio Facchetti, Martin Leo Hansmann, Sylvia Hartmann
Standardized treatment options are lacking for patients with unresectable or multifocal follicular dendritic cell sarcoma (FDCS) and disease-related mortality is as high as 20%. Applying whole genome sequencing (WGS) in one case and whole exome sequencing (WES) in additional twelve, this study adds information on the molecular landscape of FDCS, expanding knowledge on pathobiological mechanisms and identifying novel markers of potential theragnostic significance. Massive parallel sequencing showed high frequency of mutations on oncosuppressor genes, particularly in RB1, CARS and BRCA2 and unveiled alterations on homologous recombination DNA damage repair related genes in 70% (9/13) of cases...
November 23, 2023: Haematologica