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Biopsy-free diagnosis of primary diffuse large B-cell lymphoma of the central nervous system

https://doi.org/10.35754/0234-5730-2024-69-3-368-383

Abstract

Introduction. The use of invasive methods for diagnosing primary diffuse large B-cell lymphoma of the central nervous system (PDLBCL CNS) and primary vitreoretinal lymphoma (PVRL) is often associated with the development of severe neurological deficits and disability of patients. A promising direction in the diagnosis of PDLBCL CNS and PVRL is the use of non-invasive approaches based on molecular genetic methods for the determination of mutations in the MYD88 gene in the cerebrospinal fluid (CSF), vitreous fluid (VF) and free circulating tumor DNA (cfDNA) in blood serum.

Aim: to present the potential of non-invasive diagnosis of PDLBCL CNS and PVRL.

Main findings. The study included 6 patients (4 — PDLBCL CNS, 2 — PVRL). The average age was 64 (54–75) years. Despite increased cytosis in the CSF in all 4 patients with PDLBCL CNS, the tumor population was determined by flow cytometry in only half of the cases. According to a molecular genetic study, mutations in the MYD88 gene with an allelic load from 2.5% to 15% were detected in the genomic DNA of the CSF of all patients. In 2 patients with PVRL, mutations in the MYD88 gene were detected in VF with an allelic load of 4.2% and 6.6%, which was the only confirmation of the diagnosis. Currently, 5 patients have completed the treatment program and 1 is undergoing therapy. All 5 patients are in complete remission (CR) of the disease with follow-up periods from 1 to 8 months.

About the Authors

D. A. Koroleva
National Medical Research Center for Hematology
Russian Federation

Daria A. Koroleva, Cand. Sci. (Med.), Hematologist, Department of Hematology and Chemotherapy of Lymphomas with Bone Marrow and Hematopoietic Stem Cell Transplantation Unit

125167, Moscow



E. E. Zvonkov
National Medical Research Center for Hematology
Russian Federation

Evgeny E. Zvonkov, Dr. Sci. (Med.), Head of the Department of Hematology and Chemotherapy of Lymphomas with Bone Marrow and Hematopoietic Stem Cell Transplantation Unit

125167, Moscow



O. O. Shchetsova
National Medical Research Center for Hematology
Russian Federation

Olga O. Shchetsova, hematologist, Department of Hematology and Chemotherapy of Lymphomas with Bone Marrow and Hematopoietic Stem Cell Transplantation Unit

125167, Moscow



E. E. Nikulina
National Medical Research Center for Hematology
Russian Federation

Elena E. Nikulina, Research associate, Laboratory of Molecular Hematology

125167, Moscow



I. V. Bolshakov
National Medical Research Center for Hematology
Russian Federation

Ivan V. Bolshakov, Physician, Clinical Laboratory of Molecular Genetic Diagnostics

125167, Moscow



N. A. Severina
National Medical Research Center for Hematology
Russian Federation

Nataliya A. Severina, Cand. Sci. (Biol.), Physician, Clinical Laboratory of Molecular Genetic Diagnostics

125167, Moscow



D. G. Drokova
National Medical Research Center for Hematology
Russian Federation

Darya G. Drokova, Physician, Centralized Clinical Diagnostic Laboratory

125167, Moscow



E. B. Rybkina
National Medical Research Center for Hematology
Russian Federation

Elena B. Rybkina, Physician, Centralized Clinical Diagnostic Laboratory

125167, Moscow



V. N. Dvirnyk
National Medical Research Center for Hematology
Russian Federation

Valentina N. Dvirnyk, Cand. Sci. (Med.), Head of the Central Clinical Diagnostic Laboratory

125167, Moscow



N. G. Gabeeva
National Medical Research Center for Hematology
Russian Federation

Nelli G. Gabeeva, Cand. Sci. (Med.), Hematologist, Department of Hematology and Chemotherapy of Lymphomas with Bone Marrow and Hematopoietic Stem Cell Transplantation Unit

125167, Moscow



G. A. Yatsyk
National Medical Research Center for Hematology
Russian Federation

Galina A. Yatsyk, Cand. Sci. (Med.), Head of the Department for Magnetic Resonance Imaging and Ultrasound Diagnostics

125167, Moscow



S. Yu. Fedorova
National Medical Research Center for Hematology
Russian Federation

Svetlana Yu. Fedorova, Neurologist, Laboratory for the Study of Mental and Neurological Disorders in the Setting of Hematologic Diseases

125167, Moscow



A. V. Gubkin
Moscow Clinical Research Center named after A.S. Loginova
Russian Federation

Andrey V. Gubkin, Cand. Sci. (Med.), Head of the Department of Hematology and Chemotherapy of hemoblastoses No. 2

111123, Moscow



A. B. Sudarikov
National Medical Research Center for Hematology
Russian Federation

Andrey B. Sudarikov, Dr. Sci. (Biol.), Head of Department of Molecular Hematology

125167, Moscow



D. V. Borisova
The Cheboksary Branch of the S. Fyodorov Eye Microsurgery Federal State Institution
Russian Federation

Darya V. Borisova, Head of the Department of Therapeutic Treatment of Macular Pathology

428028, Cheboksary



A. A. Voskresenskaya
The Cheboksary Branch of the S. Fyodorov Eye Microsurgery Federal State Institution
Russian Federation

Anna A. Voskresenskaya, Cand. Sci. (Med.), Deputy Director for Research 

428028, Cheboksary



N. A. Pozdeeva
The Cheboksary Branch of the S. Fyodorov Eye Microsurgery Federal State Institution
Russian Federation

Nadezhda A. Pozdeyeva, Dr. Sci. (Med.), Associate Professor , Head 

428028, Cheboksary



E. N. Parovichnikova
National Medical Research Center for Hematology
Russian Federation

Elena N. Parovichnikova, Dr. Sci. (Med.), CEO

125167, Moscow



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Review

For citations:


Koroleva D.A., Zvonkov E.E., Shchetsova O.O., Nikulina E.E., Bolshakov I.V., Severina N.A., Drokova D.G., Rybkina E.B., Dvirnyk V.N., Gabeeva N.G., Yatsyk G.A., Fedorova S.Yu., Gubkin A.V., Sudarikov A.B., Borisova D.V., Voskresenskaya A.A., Pozdeeva N.A., Parovichnikova E.N. Biopsy-free diagnosis of primary diffuse large B-cell lymphoma of the central nervous system. Russian journal of hematology and transfusiology. 2024;69(3):368-383. (In Russ.) https://doi.org/10.35754/0234-5730-2024-69-3-368-383

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ISSN 0234-5730 (Print)
ISSN 2411-3042 (Online)