Nakamura T, Tateishi K, Niwa T, Matsushita Y, Tamura K, Kinoshita M, Tanaka K, Fukushima S, Takami H, Arita H et al (2016) Recurrent mutations of CD79B and MYD88 are the hallmark of primary central nervous system lymphomas. Neuropathol Appl Neurobiol 42:279–290

Article  CAS  PubMed  Google Scholar 

Yamaguchi J, Ohka F, Lushun C, Motomura K, Aoki K, Takeuchi K, Nagata Y, Ito S, Mizutani N, Ohno M et al (2023) CD79B Y196 mutation is a potent predictive marker for favorable response to R-MPV in primary central nervous system lymphoma. Cancer Med 12:7116–7126

Article  CAS  PubMed  Google Scholar 

Chapuy B, Stewart C, Dunford AJ, Kim J, Kamburov A, Redd RA, Lawrence MS, Roemer MGM, Li AJ, Ziepert M et al (2018) Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes. Nat Med 24:679–690

Article  CAS  PubMed  PubMed Central  Google Scholar 

Raja H, Salomão DR, Viswanatha DS, Pulido JS (2016) Prevalence of MYD88 L265P mutation in histologically proven, diffuse large B-cell vitreoretinal lymphoma. Retina 36:624–628

Article  CAS  PubMed  Google Scholar 

Bonzheim I, Giese S, Deuter C, Süsskind D, Zierhut M, Waizel M, Szurman P, Federmann B, Schmidt J, Quintanilla-Martinez L et al (2015) High frequency of MYD88 mutations in vitreoretinal B-cell lymphoma: a valuable tool to improve diagnostic yield of vitreous aspirates. Blood 126:76–79

Article  CAS  PubMed  Google Scholar 

Yonese I, Takase H, Yoshimori M, Onozawa E, Tsuzura A, Miki T, Mochizuki M, Miura O, Arai A (2019) CD79B mutations in primary vitreoretinal lymphoma: Diagnostic and prognostic potential. Eur J Haematol 102:191–196

Article  CAS  PubMed  Google Scholar 

Watanabe J, Natsumeda M, Okada M, Kobayashi D, Kanemaru Y, Tsukamoto Y, Oishi M, Kakita A, Fujii Y (2019) High detection rate of MYD88 mutations in cerebrospinal fluid from patients with central nervous system lymphomas. JCO Precis Oncol 3:1–13

Article  CAS  PubMed  Google Scholar 

Watanabe J, Natsumeda M, Kanemaru Y, Okada M, Oishi M, Kakita A, Fujii Y (2019) Comparison of circulating tumor DNA between body fluids in patients with primary central nervous system lymphoma. Leuk Lymphoma 60:3587–3589

Article  PubMed  Google Scholar 

Baraniskin A, Schroers R (2021) Liquid biopsy and other non-invasive diagnostic measures in PCNSL. Cancers 13:2665

Article  CAS  PubMed  PubMed Central  Google Scholar 

Morell AA, Shah AA-O, Cavallo C, Eichberg DG, Sarkiss CA, Benveniste R, Ivan ME, Komotar RJ (2019) Diagnosis of primary central nervous system lymphoma: a systematic review of the utility of csf screening and the role of early brain biopsy. Neurooncol Pract 6:415–423

PubMed  PubMed Central  Google Scholar 

On J, Natsumeda M, Watanabe J, Saito S, Kanemaru Y, Abe H, Tsukamoto Y, Okada M, Oishi M, Yoshimura J et al (2021) Low detection rate of h3k27m mutations in cerebrospinal fluid obtained from lumbar puncture in newly diagnosed diffuse midline gliomas. Diagnostics (Basel) 11:681

Article  CAS  PubMed  Google Scholar 

Natsumeda M, On J, Watanabe J, Takahashi H, Tsukamoto Y, Okada M, Hiraishi T, Yoshimura J, Oishi M, Fujii Y (2022) Characteristics of diffuse mildline gliomas with positive detection of H3K27M mutations in cerebrospinal fluid. Nerv Syst Child 44:358–364

Google Scholar 

Natsumeda M, On J, Watanabe J, Tsukamoto Y, Okada M, Fujii Y, Adachi J, Nishikawa R (2021) The present and future of less-invasive liquid biopsy for the diagnosis of gliomas and brain tumors. No Shinkei Geka 49:527–534

CAS  PubMed  Google Scholar 

Mutter JA, Alig SK, Esfahani MS, Lauer EM, Mitschke J, Kurtz DM, Kuhn J, Bleul S, Olsen M, Liu CL et al (2023) Circulating tumor DNA profiling for detection, risk stratification, and classification of brain lymphomas. J Clin Oncol 41:1684–1694

Article  CAS  PubMed  Google Scholar 

Takahashi H, Natsumeda M, On J, Watanabe J, Tada M, Shimizu H, Tsukamoto Y, Okada M, Oishi M, Takizawa J et al (2023) Administration of glucocorticoids prior to liquid biopsy dramatically reduces the detection rate of MYD88 L265P mutation in cerebrospinal fluid of primary CNS lymphoma patients. Leuk Lymphoma 64:1219–1222

Article  CAS  PubMed  Google Scholar 

Yamagishi Y, Sasaki N, Nakano Y, Matushita Y, Omura T, Shimizu S, Saito K, Kobayashi K, Narita Y, Kondo A et al (2021) Liquid biopsy of cerebrospinal fluid for MYD88 L265P mutation is useful for diagnosis of central nervous system lymphoma. Cancer Sci 112:4702–4710

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hiemcke-Jiwa LS, Minnema MC, Radersma-van Loon JH, Jiwa NM, de Boer M, Leguit RJ, de Weger RA, Huibers MMH (2018) The use of droplet digital PCR in liquid biopsies: a highly sensitive technique for MYD88 p. (L265P) detection in cerebrospinal fluid. Hematol Oncol 36:429–435

Article  CAS  PubMed  Google Scholar 

Rimelen V, Ahle G, Pencreach E, Zinniger N, Debliquis A, Zalmai L, Harzallah I, Hurstel R, Alamome I, Lamy F et al (2019) Tumor cell-free DNA detection in CSF for primary CNS lymphoma diagnosis. Acta Neuropathol Commun 7:43

Article  CAS  PubMed  PubMed Central  Google Scholar 

Heger J-M, Mattlener J, Schneider J, Gödel P, Sieg N, Ullrich F, Lewis RI, Bucaciuc-Mracica T, Schwarz RF, Rueß D et al (2023) Entirely noninvasive outcome prediction in central nervous system lymphomas using circulating tumor DNA. Blood 143:522–534

Article  Google Scholar 

Zheng X, Li P, Dong Q, Duan Y, Yang S, Cai Z, Chen F, Li W (2021) MicroRNAs as diagnostic biomarkers in primary central nervous system lymphoma: a systematic review and meta-analysis. Front Oncol 11:743542

Article  CAS  PubMed  PubMed Central  Google Scholar 

Diehl F, Schmidt K, Choti MA, Romans K, Goodman S, Li M, Thornton K, Agrawal N, Sokoll L, Szabo SA et al (2008) Circulating mutant DNA to assess tumor dynamics. Nat Med 14:985–990

Article  CAS  PubMed  Google Scholar 

Gonzolez-Aguilar A, Ibdaih A, Boisselier B, Habbita N, Rosetto M, Laurenge A, Bruno A, Jouvet A, Polivka M, Adam C et al (2012) Recurrent mutations of MYD88 and TBL1XR1 in primary central nervous system lymphomas. Clin Cancer Res 18:5203–5211

Article  Google Scholar 

Bruno A, Boisselier B, Labreche K, Marie Y, Polivka M, Jouvet A, Adam C, Figarella-Branger D, Miquel C, Eimer S et al (2014) Mutational analysis of primary central nervous system lymphoma. Oncotarget 5:5065–5075

Article  PubMed  PubMed Central  Google Scholar 

Braggio E, Van Wier S, Ojha J, McPhail E, Asmann YW, Egan J, da Silva JA, Schiff D, Lopes MB, Decker PA et al (2015) Genome-wide analysis uncovers novel recurrent alterations in primary central nervous system lymphomas. Clin Cancer Res 21:3986–3994

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yamada S, Ishida Y, Masuno A, Yamazaki K (2015) Primary diffuse large b-cell lymphomas of central nervous system exhibit remarkably high prevalence of oncogenic MYD88 and CD79B mutations. Leuk Lymphoma 56:2141–2145

Article  CAS  PubMed  Google Scholar 

Hattori K, Sakata-Yanagimoto M, Okoshi Y, Goshima Y, Yanagimoto S, Nakamoto-Matsubara R, Sato T, Noguchi M, Takano S, Ishikawa E et al (2016) MYD88 (L265P) mutation is associated with an unfavourable outcome of primary central nervous system lymphoma. Br J Haematol 177:481–497

Google Scholar 

Nayyar N, White MD, Gill CM, Lastrapes M, Bertalan M, Kaplan A, D’Andrea MR, Bihun I, Kaneb A, Dietrich J et al (2019) MYD88 L265P mutation and CDKN2A loss are early mutational events in primary central nervous system diffuse large B-cell lymphomas. Blood Adv 3:375–383

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bravetti C, Degaud M, Armand M, Sourdeau E, Mokhtari K, Maloum K, Osman J, Verrier P, Houillier C, Roos-Weil D et al (2023) Combining MYD88 L265P mutation detection and clonality determination on CSF cellular and cell-free DNA improves diagnosis of primary CNS lymphoma. Br J Haematol 201:1088–1096

Article  CAS  PubMed  Google Scholar 

Ferreri AJM, Calimeri T, Lopodote P, Francaviglia I, Daverio R, Iacona C, Belloni C, Steffanoni S, Gulino A, Anghileri E et al (2021) MYD88 L265P mutation and interleukin-10 detection in cerebrospinal fluid are highly specific discriminating markers in patients with primary central nervous system lymphoma: results from a prospective study. Br J Haematol 193:497–505

Article  CAS  PubMed  Google Scholar 

Sasayama T, Nakamizo S, Nishihara M, Kawamura A, Tanaka H, Mizukawa K, Miyake S, Taniguchi M, Hosoda K, Kohmura E (2012) Cerebrospinal fluid interleukin-10 is a potentially useful biomarker in immunocompetent primary central nervous system lymphoma (PCNSL). Neuro Oncol 14:368–380

Article  CAS  PubMed  Google Scholar 

Gupta M, Burns EJ, Georgantas NZ, Theirauf J, Nayyar N, Gordon A, Jones SS, Pisapia M, Sun Y, Burns RP et al (2021) A rapid genotyping panel for detection of primary central nervous system lymphoma. Blood 138:382–386

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hayashi T, Tateishi K, Matsuyama S, Iwashita H, Miyake Y, Oshima A, Honma H, Sasame J, Takabayashi K, Sugino K et al (2023) Intraoperative integrated diagnostic system for malignant central nervous system tumors. Clin Cancer Res 30:116–126

Article  Google Scholar 

Haider Z, Wasterlid T, Spangberg LD, Rabbani L, Jylha C, Thorvaldsdottir B, Skaftason A, Awier HN, Krstic A, Gellerbring A et al (2023) Whole-genome informed circulating tumor DNA analysis by multiplex digital pcr for disease monitoring in B-cell lymphomas: a proof-of-concept study. Front Oncol 13:1176698

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yamaguchi J, Ohka F, Kitano Y, Maeda S, Motomura K, Aoki K, Takeuchi K, Nagata Y, Hattori H, Tsujiuchi T et al (2023) Rapid detection of the MYD88 L265P mutation for pre- and intra-operative diagnosis of primary central nervous system lymphoma. Cancer Sci 114:2544–2551

Article  CAS