ВИЗНАЧЕННЯ РОЛІ ДЕЛЕЦІЇ ГЕНУ ТР53



Similar documents
Malignant Lymphomas and Plasma Cell Myeloma

Interesting Case Review. Renuka Agrawal, MD Dept. of Pathology City of Hope National Medical Center Duarte, CA

Cancer. 9p21.3 deletion. t(12;21) t(15;17)

FastTest. You ve read the book now test yourself

CHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA

An overview of CLL care and treatment. Dr Dean Smith Haematology Consultant City Hospital Nottingham

March 19, Dear Dr. Duvall, Dr. Hambrick, and Ms. Smith,

PROGNOSIS IN ACUTE LYMPHOBLASTIC LEUKEMIA PROGNOSIS IN ACUTE MYELOID LEUKEMIA

MULTIPLE MYELOMA. Dr Malkit S Riyat. MBChB, FRCPath(UK) Consultant Haematologist

LYMPHOMA. BACHIR ALOBEID, M.D. HEMATOPATHOLOGY DIVISION PATHOLOGY DEPARTMENT Columbia University/ College of Physicians & Surgeons

Lauren Berger: Why is it so important for patients to get an accurate diagnosis of their blood cancer subtype?

Waldenström Macroglobulinemia: The Burning Questions. IWMF Ed Forum May Morie Gertz MD, MACP

The following chapter is called "Preimplantation Genetic Diagnosis (PGD)".

Cytogenetics for the Rest of Us: A Primer

Why discuss CLL? Common: 40% of US leukaemia. approx 100 pa in SJH / MWHB 3 inpatients in SJH at any time

What is Cancer? Cancer is a genetic disease: Cancer typically involves a change in gene expression/function:

6/20/2014. PART I: Plasma Cell Myeloma. Plasma Cells

Corporate Medical Policy

treatments) worked by killing cancerous cells using chemo or radiotherapy. While these techniques can

Lymphoplasmacytic Lymphoma. Hematology fellows conference 4/12/2013 Christina Fitzmaurice, MD, MPH

Multiple Myeloma Patient s Booklet

Aggressive lymphomas. Michael Crump Princess Margaret Hospital

Introduction. About 10,500 new cases of acute myelogenous leukemia are diagnosed each

CML. cure. A Patient s Guide. Molecular Biology Diagnosis Stem Cell Transplant Monitoring New Drugs Questions to Ask and More

Estimated New Cases of Leukemia, Lymphoma, Myeloma 2014

MEDICAL COVERAGE POLICY

UNDERSTANDING MULTIPLE MYELOMA AND LABORATORY VALUES Benjamin Parsons, DO Gundersen Health System Center for Cancer and

Stem Cell Transplantation

Chromosome 6 Abnormalities Associated with Prolymphocytic Acceleration in Chronic Lymphocytic Leukemia* f

Genomic Analysis of Mature B-cell Malignancies

亞 東 紀 念 醫 院 Follicular Lymphoma 臨 床 指 引

Acute myeloid leukemia (AML)

INSERM/ A. Bernheim. Overcoming clinical relapse in multiple myeloma by understanding and targeting the molecular causes of drug resistance

ALCHEMIST (Adjuvant Lung Cancer Enrichment Marker Identification and Sequencing Trials)

SECOND PRIMARY BREAST CANCERS FOLLOWING HAEMATOLOGIC MALIGNANCIES A CASE SERIES STUDY FARAH TANVEER PGY 3 DR.MEIR WETZLER DR.

Abstract. Keywords: multiple myeloma, fluorescence in-situ hybridization, FISH, DLEU1

Corporate Medical Policy

chronic leukemia lymphoma myeloma differentiated 14 September 1999 Pre- Transformed Ig Surface Surface Secreted Myeloma Major malignant counterpart

Shaji Kumar, M.D. Multiple Myeloma: Multiple myeloma (MM) is the second most common hematological

Targeted Therapy What the Surgeon Needs to Know


Haematopoietic Chimerism Analysis after Allogeneic Stem Cell Transplantation

Subtypes of AML follow branches of myeloid development, making the FAB classificaoon relaovely simple to understand.

Adult Medical-Surgical Nursing H A E M A T O L O G Y M O D U L E : L E U K A E M I A 2

A 32 year old woman comes to your clinic with neck masses for the last several weeks. Masses are discrete, non matted, firm and rubbery on

Chronic Lymphocytic Leukemia. Case Study. AAIM Triennial October 2012 Susan Sokoloski, M.D.

Hodgkin Lymphoma Disease Specific Biology and Treatment Options. John Kuruvilla

CAP Accreditation Checklists 2015 Edition

Interesting Case Series. Periorbital Richter Syndrome

Update in Hematology Oncology Targeted Therapies. Mark Holguin

UMHS-PUHSC JOINT INSTITUTE

Enhance Sensitivity of FISH Analysis with Highly Purified Multiple Myeloma Cells Using RoboSep, the Fully Automated Cell Separator

Cytogenetic Profile of Variant Philadelphia Translocations in Chronic Myeloid Leukemia

A Focus on Multiple Myeloma

What is a Stem Cell Transplantation?

Current Multiple Myeloma Treatment Adapted From the NCCN Guidelines

FDA approves Rituxan/MabThera for first-line maintenance use in follicular lymphoma

Robert Bristow MD PhD FRCPC

Chronic lymphocytic EBMT Slideleukemia. University of Heidelberg, Germany March 22, The European Group for Blood and Marrow Transplantation

Effects of Herceptin on circulating tumor cells in HER2 positive early breast cancer

CANCER GENETICS, INC.

for Leucocyte Immunophenotyping Leukaemia Diagnosis Interpretation All Participants Date Issued: 08-September-2014 Closing Date: 26-September-2014

Outline of thesis and future perspectives.

CLL: Disease Course, Treatment, Diagnosis, and Biomarkers

Multiple Myeloma. This reference summary will help you understand multiple myeloma and its treatment options.

CT-guided Biopsy of Focal Lesions in Patients with Multiple Myeloma May Reveal New and More Aggressive Cytogenetic Abnormalities

Oncology Best Practice Documentation

Special report. Chronic Lymphocytic Leukemia (CLL) Genomic Biology 3020 April 20, 2006

LCFA/IASLC LORI MONROE SCHOLARSHIP IN TRANSLATIONAL LUNG CANCER RESEARCH

PROTOCOLS FOR TREATMENT OF MALIGNANT LYMPHOMA

Sommaire projets sélectionnés mesure 29: Soutien à la recherche translationnelle

Acute Myeloid Leukemia

B-cell Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma

Emerging New Prognostic Scoring Systems in Myelodysplastic Syndromes 2012

HER2 Testing in Breast Cancer

Monoclonal Gammopathy of Undetermined Significance (MGUS) Facts

Fluorescence in situ hybridisation (FISH)

HER2 Status: What is the Difference Between Breast and Gastric Cancer?

Lymphoma Diagnosis and Classification

A Career in Pediatric Hematology-Oncology? Think About It...

Multiple Myeloma Workshop- Tandem 2014

Leukemias and Lymphomas: A primer

MALIGNANT LYMPHOMAS. Dr. Olga Vujovic (Updated August 2010)

Molekylært målrettet medicinsk kræftbehandling for klinikere principper og metoder

What is New in Oncology. Michael J Messino, MD Cancer Care of WNC An affiliate of Mission hospitals

Uses of Flow Cytometry

Mantle Cell Lymphoma Understanding Your Treatment Options

Supplementary appendix

Narrator: Transplants using stem cells from the blood, bone marrow or umbilical cord blood

guides BIOLOGY OF AGING STEM CELLS An introduction to aging science brought to you by the American Federation for Aging Research

Cutaneous Lymphoma FAST FACTS

Mature Lymphoproliferative disorders (2): Mature B-cell Neoplasms. Dr. Douaa Mohammed Sayed

Corporate Medical Policy

When B Cells Go Bad: Infection, Inflammation and Chronic B Cell Stimulation

Abstract. Bone marrow-level oxygen tension enables enhanced and sustained growth of 3 new pediatric acute lymphoblastic leukemia cell lines

Non-Hodgkin s Lymphoma

Pulling the Plug on Cancer Cell Communication. Stephen M. Ansell, MD, PhD Mayo Clinic

Bone Marrow/Stem Cell Transplant

LEUKEMIA LYMPHOMA MYELOMA Advances in Clinical Trials

Hodgkin and Non-Hodgkin Lymphoma Pre-HCT Data

Transcription:

Keywords: сhronic lymphoproliferative neoplasms, B-cell chronic lymphocytic leukemia, multiple myeloma, diffuse large B-cell lymphoma, gene deletion TP 53, fluorescent in situ hybridization. 180 180 ВИЗНАЧЕННЯ РОЛІ ДЕЛЕЦІЇ ГЕНУ ТР53 В ДІАГНОСТИЦІ ТА ПРОГНОЗІ ПЕРЕБІГУ ХРОНІЧНИХ ЛІМФОПРОЛІФЕРАТИВНИХ НЕОПЛАЗІЙ ЗА ДОПОМОГОЮ МЕТОДУ ФЛУОРЕСЦЕНТНОЇ IN SITU ГІБРИДИЗАЦІЇ Ж. А. Мішаріна *, В. В. Сітько, А. І. Курченко *, С. М. Кравченко, Н. І. Костюкова, В. Г. Бебешко ДУ «Національний науковий центр радіаційної медицини НАМН України», Київ * Національний медичний університет імені О.О.Богомольця, Київ Резюме. Представлені результати молекулярно-цитогенетичних досліджень у 60 хворих на хронічні лімфопроліферативні неоплазії (ХЛПН). Клональні делеції гену ТР 53 були виявлені у 25% хворих на ХЛПН: у восьми із 20 хворих на хронічну B-клітинну лімфоцитарну лейкемію (В-ХЛЛ), у шести із 20 хворих на дифузну крупноклітинну В-лімфому (ДКВЛ) та одного із 20 хворих на множинну мієлому (ММ). Аномалії гена ТР53 достовірно частіше реєструвались у хворих на В-ХЛЛ з тяжким перебігом хвороби в порівнянні з групою хворих на ММ (40% та 5%), відповідно (p < 0,05). Ключові слова: хронічні лімфопроліферативні неоплазії, хронічна B-клітинна лімфоцитарна лейкемія, множинна мієлома, дифузна крупноклітинна В-лімфома, делеція гену ТР 53, флуоресцентна in situ гібридизація. ОПРЕДЕЛЕНИЕ РОЛИ ДЕЛЕЦИИ ГЕНА ТР 53 В ДИАГНОСТИКЕ И ПРОГНОЗЕ ТЕЧЕНИЯ ХРОНИЧЕСКИХ ЛИМФОПРОЛИФЕРАТИВНЫХ НЕОПЛАЗИЙ С ПОМОЩЬЮ МЕТОДА ФЛУОРЕСЦЕНТНОЙ IN SITU ГИБРИДИЗАЦИИ Ж. А. Мишарина *, В. В. Ситько, А. И. Курченко *, С. М. Кравченко, Н. И. Костюкова, В. Г. Бебешко ГУ "Национальный научный центр радиационной медицины НАМН Украины", Киев * Национальный медицинский университет имени А. А. Богомольца, Киев Резюме. Представлены результаты молекулярно-цитогенетических исследований у 60 больных хроническими лимфопролиферативными неоплазиями (ХЛПН). Клональные делеции гена ТР 53 были обнаружены в 25% больных ХЛПН: у восьми из 20 больных с хронической B-клеточной лимфоцитарной лейкемией (В- ХЛЛ), у шести из 20 больных с диффузной крупноклеточной В-лимфомой (ДКВЛ) и одного из 20 больных множественной миеломой (ММ). Аномалии гена ТР 53 достоверно чаще регистрировались у больных с тяжелым течением болезни В-ХЛЛ по сравнению с группой больных ММ (40% и 5%), соответственно (p < 0,05). Ключевые слова: хронические лимфопролиферативные неоплазии, хроническая B-клеточная лимфоцитарная лейкемия, множественная миелома, диффузная крупноклеточных В-лимфома, делеция гена ТР 53, флуоресцентная in situ гибридизация.

Recent achievements in the research of mechanisms of development and progression of chronic lymphoproliferative neoplasms (CLPN) and analysis of the effectiveness of treatment depending on the type of therapeutic interventions are a valid basis for a new strategy in the diagnosis, prognosis and treatment of these patients. The introduction into clinical practice of modern research methods, including cytogenetic and molecular cytogenetic, allows to determine the genomic reorganization that determine the development of the tumor, the degree of malignancy and metastatic potential level of sensitivity to anticancer drugs therapy. Unfortunately, cytogenetic studies of chronic lymph proliferative neoplasia are associated with certain difficulties. Thus, the substrate cells for this disease have very low spontaneous mitotic activity, and their response to used mitogens is very weak. Therefore, only in some CLPN patients we can get enough of metaphase in unstimulated cell culture for further study. Today, opportunities of cytogenetic diagnosis of CLPN much expanded with the application of new technologies of molecular cytogenetics, based on fluorescent in situ hybridization (FISH) of nucleic acids. FISH method was developed to determine the localization of specific DNA sequences directly in cytological preparations. This method is based on the ability to form stable chromosomal DNA hybrid molecules of DNA (RNA) tests that labeled fluorophore. The size of the DNA fragment under study can range from 60 to 1,500 kb [16]. For the diagnosis of chromosome abnormalities in patients with CLPN interphase fluorescence in situ hybridization (I-FISH) becomes most widely used technique, because it allows you to record the presence of abnormal clone in samples of tumor cells, determine amplification in it, translocations and deletions of certain genes, and evaluate the effectiveness of chemotherapy, performed to patients with / or without transplantation of stem cells (SC) of bone marrow and / or peripheral blood with B-cell chronic lymphocytic leukemia (B-CLL), multiple myeloma (MM), diffuse large B-cell lymphoma (DLBCL). Unlike standard methods of cytogenetic analysis when changes of karyotype are recorded only in 30-45% of patients with newly diagnosed CLPN, fluorescent in situ hybridization allows the identification of chromosomal aberrations in more than 80% of patients [8]. The aim was to determine the role of genomic disorders of chromosome 17 in the region 17p13.1, where suppressor gene of malignant transformation TP53 is localized in substrate cells of bone marrow and biopsy material of lymph nodes in patients with B-CLL, MM and DLBCL to provide prognostic assessments of the progress of CLPN sub-variants, and early detection of resistant to therapy cases and recurrence of CLPN. 181 181

Subjects and methods. Molecular cytogenetic studies were performed in molecular genetic laboratory of diagnosis and prognosis of radiation induced oncohematological pathology of department of Hematology and Transplantology in SI "National Research Centre of Radiation Medicine of NAMS of Ukraine". Bone marrow cells, peripheral blood samples of substrate cells of biopsy material were analyzed and a statistical analysis of results of 60 patients with diagnosis CLPN, including 20 people with B-cell chronic lymphocytic leukemia (B-CLL), 20 with diffuse large B-cell lymphoma (DLBCL) and 20 with multiple myeloma (MM) was conducted. The age of patients at diagnosis ranged from 21 to 75 years and averaged in patients with B-CLL 60,30 ± 2,73, in patients with DLBCL 48,95 ± 3,31 and 58,45 ± 1.83 in patients with MM. The average age of patients with CLPN was 55,9 ± 1,66 years, 7 (11,67%) of patients were younger than 40 years. 34 (56,67%) analyzed samples of bone marrow cells were obtained from male patients and 26 (43,33%) female. Control group was formed from five healthy people aged 40 to 55 years (mean 48,00 ± 2,43). For each person in the control group nuclei and metaphase lymphocytes in peripheral blood and bone marrow were studied. Patients and subjects were informed about the purpose and objectives of the study and consent from them was obtained. Cytogenetic abnormalities research of gene TP 53 was performed on 24- hour unstimulated cultures of bone marrow cells that were received by sternal puncture. Cultivation of native bone marrow (0,5 ml) for 24 hours was carried out in 5 ml culture medium RPMI-1640 ("Sigma", USA) supplemented with 20% fetal calf serum ("Sigma", USA) and 20 ml colchicine ("Sigma", USA) for 2 hours before fixation. Cell suspension was incubated in a thermostat at 37,0 о C for 24 hours. Upon completion of the cultivation hypotonic treatment of cells was carried with heated to 38 о C and prepared ex tempore 0,075 M solution of potassium chloride for 20 min. at 37,0 о C (rate of 1 ml hypotonic solution to precipitate obtained from 1 ml of culture). To the cell suspension 8 ml of cooled holder (a mixture of methanol and glacial acetic acid in a ratio of 3: 1) was added. Samples left at + 4 о С 15 minutes. Replacement of clamp was performed three times. FISH studies in interphase nuclei and metaphase that were received during cytogenetic studies were conducted using commercial test LSI TP53/CEP 17 FISH Probe Kit (Abbott Molecular, USA) according to manufacturer's instructions. Analysis was performed on the software and hardware complex CytoVision (Applied Imaging, UK) based on microscope Olympus BX51, Japan. To visualize the signal samples Vysis TP53/CEP 17 FISH Probe Kit (17p13.1) filters used: 182 182

Chromosome Locus Probe Fluorochrome 17 17p13.1 Vysis LSI TP53 - Orange 17 17p11.1-q11.1 Vysis CEP 17 Alpha Satellite Green Figure 1 Scheme of the sample Vysis TP 53/CEP 17 (Abbot Molecular Catalog 2011 for Oncology, Automation and Genetics). CY3/FITC/DAPI (Fig. 1). In each case at least 200 interphase nuclei with clear signals were analyzed. Statistical analysis of the results of studies was performed using Statistica 6.0 and Microsoft Office Excel 2007. Significance of differences between groups that were analyzed was assessed using χ2 criterion and the Fisher criterion point recommended for the small group size. The difference was considered as statistically significant at p < 0,05. Determined parameters: mean, standard deviation, mean error and measurement error, minimum and maximum values, the maximum level of cells with abnormal set of signals [3; 16]. Cutoff level was calculated in the program Microsoft Office Excel 2007 by function BETAINV (A; B; C), where A level of probability; B number of false-positive nuclei +1; C total number of nuclei analyzed. Results and discussion. At present, the main clinical problem of treatment of B-CLL, MM and DLBCL is that substrate cells are resistant to modern, standard polychemotherapy that is given to patients, and recurrence of disease including molecular-genetic, which are associated with inactivation of the gene TP 53 due to deletions of chromosome 17 (17p13.1). To verify the results and determine the characteristics of the sample Vysis TP 53/CEP 17 FISH Probe Kit (17p13.1), which was used, hybridization of the interphase nuclei of peripheral blood lymphocytes and bone marrow of five healthy people were performed. In addition, in all cases metaphase were 183 183

studied 100 per sample. Total number of analyzed metaphase and interphase nuclei is 2400. Pattern of signals 1O (TP 53, Orange)х2G(CEP 17, Green) was considered for positive. It should be noted that this test allows you to record not only changes in the number of signals corresponding to gene TP 53, but also take into account the quantitative changes of chromosome 17 as a whole (mono or polisomy). In chronic lymphoproliferative neoplasms dignosticly and prognostically for disease course and response to therapy significant is only deletion of gene TP 53. Research of control group is associated with the need of imposing percentage of nuclei with false-positive signals, the main reason of which may be the imposition of locuses or their close spatial arrangement, resulting in normal nuclei pattern of signals (1O: 1G: 1F), (1O: 2G) or (2O: 1G) is observed. A similar pattern of signals can be observed in the abnormal nuclei, where as a result of deletion of the partner area translocation after hybridization is observed fewer on one signal. In addition, in some cases bodysized location of the site that is being analyzed, is the cause of the weak binding of sample in the nuclei one signal is observed or signals are completely absent. According the study of preparations of interphase nuclei of bone marrow cells and peripheral blood threshold level (cutoff level) of signals that corresponded to distribution 1O: 2G test for TP53/СEP 17, was 4,28% at mean values of 2,15%; and 3,93% (average 2,10%) for pattern 3O: 3G and. At the same time in all metaphase a double yellow signal and a double green signal (2Oх2G pattern signals)were determined that testified about balance of genetic structures regarding gene TP 53 in healthy individuals and confirmed false-positive character of detected in the interphase nuclei changes (Table. 1). Table 1 Characteristics of changes of chromosome 17 and gene TP 53 in patients with chronic lymphoproliferative neoplasms Groups Total amount of analyzed nuclei Chromosome 17 Gene ТP 53 (%) monsomy, (%) polysomy, (%) nonclonal deletion, (%) clonal deletion, (%) В-CLL (n = 20) 237,00 ± 11,63 0 25 25 40* DLBCL (n = 20) 234,25 ± 11,32 5 30 30 30** ММ (n = 20) 270,00 ± 10,71 5 5 5 5 Control group (n = 5) 240,00 ± 13,58 0 2,10 2,15 0 * P < 0,01; ** P < 0,05 compared with the group of patients and the control group. 184 184

An examination of the main group of persons in 23,33% (14/60) cases in patients with CLPN aneuploidy was recorded with a change in the set amount from one to three or more chromosomes 17, in 76,67% (46/60) distribution of signals 2Oх2G was observed that corresponds to normal. The least common chromosomal abnormalities (3,33%, two of 60 patients) was monosomy of chromosome 17, and the most common was gene TP 53 deletion, which was found in 45,00% (27 of 60 patients) of cases. Also in the samples polisomy of chromosome 17 was observed, which was identified in 20% (12 of 60 patients) of cases. Analysis of chromosome 17 aneuploidies showed statistically significant differences of detected aberrations (p < 0,05). In the bone marrow cells of 20 patients with B-CLL pattern signals 1O (TP 53) were identified in 13 individuals (65%). In eight (40%) patients TP 53 deletion that had clonal nature was registered. For each sample from 200 to 320 interphase nuclei were analyzed, total 4740 (an average of 237,00 ± 11,63), of which with a normal distribution of signals (2Ox2G) 4116 (an average of 205,80 ± 13,41), which is 86,84% (Fig. 2). A. B. Figure 2. Picture of hybridization of bone marrow cells of patients with CLPN. A. Normal distribution signals (2Ox2G). B. Pattern of signals (1Ox2G), which corresponds to TP 53 (17p13.1) gene deletions; Vysis TP53/CEP 17, 10x100. In substrate cells of patients with B-CLL number of cores with deletion of chromosome 17p13.1 varied in the range of 10 141 with an average 26,70 ± 8,48. Accordingly, the percentage of abnormal cells on average was 11,45 ± 3,43. Thus, in five of 20 patients (25%) the number of cores with deletions not exceeded 8%, and although these changes were not clonal nature, but far exceeded the limits of error of the method, which was about 2,15% (p < 0,05). Another eight patients (40%) had clonal deletion of gene TP 53 that is associated with a poor prognosis for the disease [11, 6], and in three of them the number of abnormal nuclei exceeded 40% (40%, 47% and 47%, respectively). 185 185

The results of analysis of samples of bone marrow and lymph nodes of 20 patients with DLBCL using FISH-method showed that the normal pattern of signals (2Ox2G) was registered in 3945 (an average of 197,25 ± 18,96) cells, which is 84,20%. In 498 nuclei (10,63% of the total number of analyzed cells) an abnormal distribution of signals (1Ox2G) was determined. The number of cells with deletion of chromosome 17p13.1 varied in the range of 10 180 with an average of 24,90 ± 9,67. Accordingly, the percentage of abnormal cells on average was 12,30 ± 4,84. Thus, in six of 20 patients (30%) a yellow hybridization signal was determined, indicating the presence of deletions of chromosome 17p13.1, including two patients with the number of abnormal nuclei was 10%; in other cases 30%, 35% and 36%, indicating their clonal nature. One patient with DLBCL marked with especially high level 90% nuclei 1Ox2G, which may indicate a lack of good response to treatment and require further review of cytostatic therapy [13]. Analysis of bone marrow cells of patients with MM showed that the normal pattern of signals (2Ox2G) was registered in 5326 (an average of 266,30 ± 10,30) cells, which is 98,63%. In 44 nuclei (0,81% of the total number of analyzed cells) an abnormal distribution of signals (1Ox2G) was determined. Average signals (1Ox2G), which are characteristic of gene TP 53 deletions, were determined in double with MM. In one patient the deletion 17p13 was recorded in 10% plasma cells, indicating its clonal nature. In another patient the number of abnormal nuclei (10 of 200) did not exceed 5%. Also in one of the patient s monosomy in 10 of 200 analyzed nuclei (5%) and polisomy 30 of 300 cells (10%) were registered. According to literature data gene TP 53 deletion may be an independent prognostic factor in MM. Patients with deletion17p13 have shorter progression-free remission period and overall survival, even after high-dose chemotherapy with autologous SC transplantation than patients without deletions of the gene [10]. Therefore, in this work we have studied the substrate cells of bone marrow and biopsy material of lymph nodes in patients with B-CLL, MM and DLBCL for the deletion of the gene TP 53. A characteristic feature of these hematologic diseases is significant heterogeneity and individual variability of chromosomal abnormalities in tumor cells. Although each malignancy in this group the most frequently recurring changes in the genotype were identified, identification by methods of classical cytogenetics is significantly limited due to the low proliferative activity in vitro of B-cells. In addition, some submicroscopic adjustments, such as deletions of 11q, 13q and 17p, are almost impossible to determine on the chromosomal level. Therefore, in this study we used a more accurate method of analysis that allows you to record anomalies at the molecular level, namely interphase FISH. The results of our research and a number of similar data from other authors are presented in Table 2. 186 186

Table 2 Results of studies of gene TP 53 deletions in bone marrow cells and biopsy material of lymph nodes in patients with B-CLL, MM and DLBCL Literature Country Diagnosis Tested patients Gene ТP 53 deletion, n 1 Stevens-Kroef et al. [6] Netherlands B-CLL 17 4 2 Teimori H. et al. [15] Iran B-CLL 66 11 3 Zenz T. et al. [18] Germany B-CLL 328 16 4 Own data Ukraine B-CLL 20 8 5 Akay O.M. et al. [1] Turkey DLBCL 44 10 6 Sun G.-X. et al. [2] China DLBCL 46 14 7 Simonitsch-Klupp I. et al. [13] Austria DLBCL 13 2 8 Own data Ukraine DLBCL 20 6 9 Chang H. et al. [10] Canada ММ 105 10 10 Tǜrkmen S. et al. [14] Germany ММ 23 1 11 Gole L. et al. [9] Singapore ММ 20 1 12 Own data Ukraine ММ 20 1 According to the molecular-cytogenetic analysis pattern signals 1O (TP 53)x2G(CEP17), which corresponds to deletion TP 53, was found in 45,00% of patients with CLPN: 13 of 20 patients with B-CLL, 12 of 20 patients DLBCL and two of 20 patients with MM. Clonal deletion TP 53 was found in 25% of patients with CLPN: eight of 20 patients with B-CLL, six of 20 patients with DLBCL and one of 20 patients with MM. The average percentage of deletion of the gene TP 53 for patients with CLPN was respectively 40%, 30% and 5%, which corresponds to the data of other researchers. Clonal abnormalities of gene TP 53 were significantly more frequent in patients with B-CLL compared with a group of patients with MM (40% and 5%), respectively (p < 0,05). The table data demonstrates full compliance of own research results with research of other authors, especially in cases where the number of studied patients is almost identical. At the same time, in the group of patients with B- CLL, which was 328 persons significantly lower percentage of patients with available deletion of chromosome 17p13 (4,9%) was registered compared with our data (40%) [18]. Conversely, when examining 105 patients with MM deletion of the gene TP 53 was found in 10 persons (9,5%) [10], in our studies deletion of chromosome 17p13 determined only in one of 20 patients. Obviously, that it's not enough data about the presence of submicroscopic chromosome rearrangements of 17p, where malignant transformation suppressor gene TP 53 is localized, and therefore it is necessary to continue these studies. 187 187

Conclusion Thus during the molecular cytogenetic analysis of bone marrow cells, lymph nodes and peripheral blood of patients with CLPN, deletion TP 53 was found in 45% of patients: 13 of 20 patients with B-CLL, 12 of 20 patients with DLBCL and two of 20 patients with MM. Clonal deletion TP 53 were found in 25% of patients with CLPN. The average percentage of deletion of the gene TP 53 for patients with CLPN was respectively 40%, 30% and 5%, which corresponds to the data of other researchers. Clonal abnormalities of gene TP 53 were significantly more frequent in patients with B-CLL compared with a group of patients with MM (40% and 5%), respectively (p < 0,05). In most patients with B-CLL, MM and DLBCL (55%) changes in the genetic structure of CLPN substrate cells are not registered. It should be noted that the definition of differential prognostic markers of the disease, including chromosomal rearrangements is important not only for the choice of therapy, but also allows timely engage those measures to predict or minimize treatment failure and the development of complications associated with general toxicity of anticancer drugs, because by such a toxicity and effectiveness of standard chemotherapy is limited. Therefore, these data should be considered when oncohematologists assign first-line therapy, which should be as intense as possible for optimal outcomes. References 1. BCL2, BCL6, IGH, TP53, and MYC protein expression and gene rearrangements as prognostic markers in diffuse large B-cell lymphoma: a study of 44 Turkish patients / O. M. Akay, B. D. Aras, S. Isiksoy [et al.] // Cancer Genetics. 2014. P. 1 7. 2. [Correlation of BCL-6, MYC and p53 gene abnormalities with immunological subtypes and prognosis of diffuse large B-cell lymphoma] / Sun Guan-Xing [et al.] // Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012. V. 29, 5. P. 576 81. 3. Glantz S. Biomedical Statistics. [Translated from English] / S. Glantz. М.: Practice, 1999. 462 p. 4. Hanson K. P. Эpydemyolohyya and biology nehodzhkynskyh lymphoma / K. P. Hanson, E. N. Ymyanytov // Practical Oncology. 2004. V. 5, 3. P. 163 168. 5. Kazantseva T. V. Guidance for practical training for interns 2nd year "Differential diagnosis with Hodgkin's disease (including. Part. Diseases accompanied by prolonged high fever), differentiated treatment. " / MES Chernivtsi, 2006. 6. Identification of prognostic relevant chromosomal abnormalities in chronic lymphocytic leukemia using microarray-based genomic profiling / M. J. Stevens-Kroef, E. Van den Berg, D. Olde Weghuis // Molecular Cytogenetics. 2014. 9. P. 1 11. 7. Matutes E. Morphological and immunophenotypic features of chronic lymphocytic leukemia / E. Matutes, A. Pollack // Rev. Clin. Exp. Hematol. 2000. 4. 22 46. 188 188

8. Molecular cytogenetic aberrations in patients with Multiple Myeloma studied by interphase fluorescence in situ hybridization / L.-J. Chen, J.-Y. Li [et al.] // Exp. Oncol. 2007. V. 29, 2. P. 116 120. 9. Modified cig-fish protocol for multiple myeloma in routine cytogenetic laboratory practice / L. Gole, A. Lin, C. Chua // Cancer Genetics. 2014. 207. P. 31 34. 10. p53 gene deletion detected by fluorescence in situ hybridization is an adverse prognostic factor for patients with multiple myeloma following autologous stem cell transplantation / H. Chang, C. Qi, Qi-L Yi. [et al.] // Blood. 2005. 105. P. 358 360. 11. Patients with chronic lymphocytic leukaemia and clonal deletion of both 17p13.1 and 11q22.3 have a very poor prognosis / P. T. Greipp, S. A. Smoley, D. S. Viswanatha [et al.] // British Journal of Haematology. 2013. V. 163, 3. P. 326 33. 12. Schnaiter A. 17p Deletion in Chronic Lymphocytic Leukemia. Risk Stratification and Therapeutic Approach / A. Schnaiter, S. Stilgenbauer // Hematology/oncology clinics of North America. 2013. 27. P. 289 30. 13. Simonitsch-Klupp I. Diffuse large B-cell lymphomas with plasmablastic/ plasmacytoid features are associated with TP53 deletions and poor clinical outcome / I. Simonitsch-Klupp // Leukemia. 2004. 18. P. 146 155. 14. Tǜrkmen S. High Prevalence of Immunoglobulin Light Chain Gene Aberrations as Revealed by FISH in Multiple Myeloma and MGUS / S. Tǜrkmen, A. Binder // GENES, CHROMOSOMES & CANCER. 2014. P. 1 7. 15. Teimori H. FISH Analysis for del6q21 and del17p13 in B-cell Chronic Lymphocytic Leukemia in Iranians / H. Teimori, S. Ashoori // Iranian Red Crescent Medical Journal. 2013. V. 15, 2. P. 107 112. 16. Wolff D. Guidance for fluorescence in situ hybridization testing in hematologic disorders / D. Wolff, A. Bagg, L. Cooley [et. al.] // Journal of Molecular Diagnostics. 2007. V. 9, 2. P. 134 143. 17. Xuesong H. Identification of Predictive Pathways for Non-Hodgkin Lymphoma Prognosis / H. Xuesong, L. Yang // Cancer Informatics. 2010. 9. P. 281 292. 18. Zenz T. TP53 Mutation and Survival in Chronic Lymphocytic Leukemia / T. Zenz, B. Eichhorst // Journal of Clinical oncology. 2010. V. 28, 29. P. 4473 4479. 189 189