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. KorolevaRussian 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
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
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
Russian Federation
Elena E. Nikulina, Research associate, Laboratory of Molecular Hematology
125167, Moscow
I. V. Bolshakov
Russian Federation
Ivan V. Bolshakov, Physician, Clinical Laboratory of Molecular Genetic Diagnostics
125167, Moscow
N. A. Severina
Russian Federation
Nataliya A. Severina, Cand. Sci. (Biol.), Physician, Clinical Laboratory of Molecular Genetic Diagnostics
125167, Moscow
D. G. Drokova
Russian Federation
Darya G. Drokova, Physician, Centralized Clinical Diagnostic Laboratory
125167, Moscow
E. B. Rybkina
Russian Federation
Elena B. Rybkina, Physician, Centralized Clinical Diagnostic Laboratory
125167, Moscow
V. N. Dvirnyk
Russian Federation
Valentina N. Dvirnyk, Cand. Sci. (Med.), Head of the Central Clinical Diagnostic Laboratory
125167, Moscow
N. G. Gabeeva
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
Russian Federation
Galina A. Yatsyk, Cand. Sci. (Med.), Head of the Department for Magnetic Resonance Imaging and Ultrasound Diagnostics
125167, Moscow
S. Yu. Fedorova
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
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
Russian Federation
Andrey B. Sudarikov, Dr. Sci. (Biol.), Head of Department of Molecular Hematology
125167, Moscow
D. V. Borisova
Russian Federation
Darya V. Borisova, Head of the Department of Therapeutic Treatment of Macular Pathology
428028, Cheboksary
A. A. Voskresenskaya
Russian Federation
Anna A. Voskresenskaya, Cand. Sci. (Med.), Deputy Director for Research
428028, Cheboksary
N. A. Pozdeeva
Russian Federation
Nadezhda A. Pozdeyeva, Dr. Sci. (Med.), Associate Professor , Head
428028, Cheboksary
E. N. Parovichnikova
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