Next-generation sequencing-based characterization of the invasion by anatomical contiguity in a primary osseous diffuse large B-cell lymphoma. Correlation between the genetic profile of the malignancy and the clinical outcome of the patient
Florin Zaharie1, Laura-Ancuta Pop1, Bobe Petrushev2, Ancuta Jurj1, Mihai-Stefan Muresan3,4, Dan Eniu3,4, Bogdan Fetica5,6, Bozhidar Petkov1, Sergiu Pasca1, Doina Piciu7, Ioana Rus8, Dalma Deak8,9, Delia Dima8, Minodora-Silvia Desmirean9, Ciprian Tomuleasa1,8,9 and Ioana Berindan-Neagoe1,10,11
1Research Center for Functional Genomics, Biomedicine and Translational Medicine, "Iuliu Hatieganu" University of Medicine and Pharmacy, 2Department of Pathology, Regina Maria Laboratory, 3Department of Surgery, "Iuliu Hatieganu" University of Medicine and Pharmacy, 4Department of Surgery, Ion Chiricuta Oncology Institute, 5Department of Pathology, Ion Chiricuta Oncology Institute, 6Department of Pathology, "Iuliu Hatieganu" University of Medicine and Pharmacy, 7Department of Nuclear Medicine, Ion Chiricuta Oncology Institute, 8Department of Hematology, Ion Chiricuta Oncology Institute, 9Department of Hematology, "Iuliu Hatieganu" University of Medicine and Pharmacy, 10MedFuture Research Center for Advance Medicine, "Iuliu Hatieganu", University of Medicine and Pharmacy and 11Department of Functional Genomcis and Experimental Pathology, the Oncology Institute "Prof. Dr. Ion Chiricuta", Cluj-Napoca, Romania
Offprint requests to: Ciprian Tomuleasa, MD, PhD, Iuliu Hatieganu University of Medicine and Pharmacy, 23 Gheorghe Marinescu Street, 400337, Cluj Napoca, Romania. e-mail: ciprian.tomuleasa@umfcluj.ro
Summary. Primary bone lymphoma is now a well-described entity in the World Health Organization (WHO) Classification of Tumors of Soft Tissue and Bone as a malignancy of the lymphoid tissue, with at least one mass within bone, without involvement of supraregional lymph nodes or other extranodal sites. In the current paper, we describe the complete characterization of the mutational landscape of a diffuse large B cell non-Hodgkin's lymphoma (DLBLCL) of the tibial plateau. Currently, there is very little data about the genetic landscape of primary osseous lymphomas and about the genetic background of this type of malignancy, resistant to chemotherapy and invading the surrounding tissues. In the current paper, we describe the complete characterization of the mutational landscape of a DLBCL of the tibial plateau. Our data is consistent with already published data, that have shown that MKI67 activation is correlated with lymphoma progression. Along with a high Ki67 index, resistance to chemotherapy occurs with neurogenic locus notch homolog protein 1 (Notch) and KRAS activation.
This is the first molecular characterization for the invasion by anatomical contiguity for a primary bone lymphoma and while we only characterized one case and further deep sequencing analyses are required, we can explain the clinical dismal evolution of the patient by correlating them with the genetic landscape of this type of lymphoma. Histol Histopathol 34, 663-670 (2019)
Key words: Primary non-Hodgkin's lymphoma of the tibial plateau, Invasion by contiguity, NGS-based characterization, Resistance to chemotherapy, Clinical correlation
DOI: 10.14670/HH-18-067