Recurrent Inactivation of the PRDM1 Gene in Primary Central Nervous System Lymphoma

• DOI: 10.1097/nen.0b013e31817dd02d
• Publication Date: 2009-03-05T19:07:32Z
• Authors: Cornelius Courts; Manuel Montesinos...; Anna Brunn; Stefanie Bug; Dörte Siemer; Volkmar Hans; Ingmar Blümcke; Wolfram Klapper; Carlo Schaller; Otmar D. Wiestler; Ralf Küppers; Reiner Siebert; Martina Deckert
• Keywords: Adult; Male; 0301 basic medicine; Lymphoma, B-Cell; Lymphoma, B-Cell/*genetics/metabolism/pathology; DNA Mutational Analysis; DNA Mutational Analysis/methods; Central Nervous System Neoplasms; Central Nervous System Neoplasms/*genetics/metabolism/pathology; 03 medical and health sciences; Recurrence; Humans; *Sequence Deletion; Aged; Sequence Deletion; Aged, 80 and over; Gene Expression Regulation, Neoplastic/*genetics; Repressor Proteins/*genetics; info:eu-repo/classification/ddc/616.8; Middle Aged; ddc:616.8; 3. Good health; Gene Expression Regulation, Neoplastic; Repressor Proteins; Female; Positive Regulatory Domain I-Binding Factor 1

Primary lymphomas of the CNS (PCNSLs) show molecular features late germinal center exit B-cell phenotype and are impaired in their terminal differentiation as indicated by a lack immunoglobulin class switching. Because positive regulatory domain I protein with ZNF (PRDM1/BLIMP1) is master regulator into plasma cells, we investigated series 21 PCNSLs for presence mutations PRDM1 gene alterations expression pattern protein. Direct sequencing all coding exons identified deleterious associated abrogation 4 (19%) PCNSLs. Thus, similar to systemic diffuse large lymphomas, may be tumor suppressor some PCNSL contribute lymphomagenesis impairing differentiation.