K Grace Ho1, Christian Grommes. 1. Department of Neurology, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Abstract
PURPOSE OF REVIEW: Primary central nervous system lymphoma (PCNSL) is a rare but aggressive variant of non-Hodgkin lymphoma. The diagnostic gold standard remains the pathologic review of tumor tissue mainly collected though biopsies. The majority of PCNSL are diffuse large B cell lymphoma (DLBCL). Biopsies are invasive procedures, and there have been efforts to develop minimally invasive diagnostic testing using serum and cerebral spinal fluid. This article reviews multiple markers that could potentially serve as future diagnostic tools and predictors of treatment response. RECENT FINDINGS: Many studies have attempted to classify DLBCL into different subtypes for prognostic purposes using methods such as immunohistochemistry. PCNSL often falls under the activated B-cell-like subgroup, and further genomic sequencing has identified alterations in genes within the B-cell receptor signaling axis at increased frequencies. Two such genes, MYD88 and CD79B, implicate the involvement of the NF-kB (nuclear factor kappa-light-chain enhancer of activated B cells) pathway, and targeted agents to this pathway are currently being used in the treatment of relapsed/refractory PCNSL. SUMMARY: Although recent genomic profiling of PCNSL has increased the understanding of drivers in this disease and has also led to the introduction of targeted inhibitors, these markers have not yet been used for diagnostic and/or prognostic purposes. Further studies will need to evaluate if they hold great diagnostic potential.
PURPOSE OF REVIEW: Primary central nervous system lymphoma (PCNSL) is a rare but aggressive variant of non-Hodgkin lymphoma. The diagnostic gold standard remains the pathologic review of tumor tissue mainly collected though biopsies. The majority of PCNSL are diffuse large B cell lymphoma (DLBCL). Biopsies are invasive procedures, and there have been efforts to develop minimally invasive diagnostic testing using serum and cerebral spinal fluid. This article reviews multiple markers that could potentially serve as future diagnostic tools and predictors of treatment response. RECENT FINDINGS: Many studies have attempted to classify DLBCL into different subtypes for prognostic purposes using methods such as immunohistochemistry. PCNSL often falls under the activated B-cell-like subgroup, and further genomic sequencing has identified alterations in genes within the B-cell receptor signaling axis at increased frequencies. Two such genes, MYD88 and CD79B, implicate the involvement of the NF-kB (nuclear factor kappa-light-chain enhancer of activated B cells) pathway, and targeted agents to this pathway are currently being used in the treatment of relapsed/refractory PCNSL. SUMMARY: Although recent genomic profiling of PCNSL has increased the understanding of drivers in this disease and has also led to the introduction of targeted inhibitors, these markers have not yet been used for diagnostic and/or prognostic purposes. Further studies will need to evaluate if they hold great diagnostic potential.
Authors: I Vater; M Montesinos-Rongen; M Schlesner; A Haake; F Purschke; R Sprute; N Mettenmeyer; I Nazzal; I Nagel; J Gutwein; J Richter; I Buchhalter; R B Russell; O D Wiestler; R Eils; M Deckert; R Siebert Journal: Leukemia Date: 2014-09-05 Impact factor: 11.528
Authors: Hu Chunsong; He Yuling; Wang Li; Xiong Jie; Zhou Gang; Zhang Qiuping; Gao Qingping; Zhang Kejian; Qiao Li; Alfred E Chang; Jin Youxin; Tan Jinquan Journal: J Immunol Date: 2006-11-15 Impact factor: 5.422
Authors: Andrés J M Ferreri; Kate Cwynarski; Elisa Pulczynski; Maurilio Ponzoni; Martina Deckert; Letterio S Politi; Valter Torri; Christopher P Fox; Paul La Rosée; Elisabeth Schorb; Achille Ambrosetti; Alexander Roth; Claire Hemmaway; Angela Ferrari; Kim M Linton; Roberta Rudà; Mascha Binder; Tobias Pukrop; Monica Balzarotti; Alberto Fabbri; Peter Johnson; Jette Sønderskov Gørløv; Georg Hess; Jens Panse; Francesco Pisani; Alessandra Tucci; Stephan Stilgenbauer; Bernd Hertenstein; Ulrich Keller; Stefan W Krause; Alessandro Levis; Hans J Schmoll; Franco Cavalli; Jürgen Finke; Michele Reni; Emanuele Zucca; Gerald Illerhaus Journal: Lancet Haematol Date: 2016-04-06 Impact factor: 18.959
Authors: Christine P Hans; Dennis D Weisenburger; Timothy C Greiner; Randy D Gascoyne; Jan Delabie; German Ott; H Konrad Müller-Hermelink; Elias Campo; Rita M Braziel; Elaine S Jaffe; Zenggang Pan; Pedro Farinha; Lynette M Smith; Brunangelo Falini; Alison H Banham; Andreas Rosenwald; Louis M Staudt; Joseph M Connors; James O Armitage; Wing C Chan Journal: Blood Date: 2003-09-22 Impact factor: 22.113
Authors: Cigall Kadoch; Jing Li; Valerie S Wong; Lingjing Chen; Soonmee Cha; Pamela Munster; Clifford A Lowell; Marc A Shuman; James L Rubenstein Journal: Clin Cancer Res Date: 2013-11-04 Impact factor: 12.531
Authors: S Camilleri-Broët; A Martin; A Moreau; R Angonin; D Hénin; M F Gontier; M C Rousselet; S Caulet-Maugendre; P Cuillière; T Lefrancq; K Mokhtari; M Morcos; P Broët; M Kujas; J J Hauw; B Desablens; M Raphaël Journal: Am J Clin Pathol Date: 1998-11 Impact factor: 2.493
Authors: Bjoern Chapuy; Margaretha G M Roemer; Chip Stewart; Yuxiang Tan; Ryan P Abo; Liye Zhang; Andrew J Dunford; David M Meredith; Aaron R Thorner; Ekaterina S Jordanova; Gang Liu; Friedrich Feuerhake; Matthew D Ducar; Gerald Illerhaus; Daniel Gusenleitner; Erica A Linden; Heather H Sun; Heather Homer; Miyuki Aono; Geraldine S Pinkus; Azra H Ligon; Keith L Ligon; Judith A Ferry; Gordon J Freeman; Paul van Hummelen; Todd R Golub; Gad Getz; Scott J Rodig; Daphne de Jong; Stefano Monti; Margaret A Shipp Journal: Blood Date: 2015-12-23 Impact factor: 22.113
Authors: Irina Bonzheim; Philip Sander; Julia Salmerón-Villalobos; Daniela Süsskind; Peter Szurman; Florian Gekeler; Martin S Spitzer; Julia Steinhilber; Esther Kohler; Melanie Büssgen; Jens Schittenhelm; Itziar Salaverria; Elias Campo; Sarah E Coupland; Leticia Quintanilla-Martinez; Falko Fend Journal: Blood Adv Date: 2022-03-08