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Tsaur G.A.,RAS Institute of High Temperature Electrochemistry | Popov M.,RAS Institute of High Temperature Electrochemistry | Nasedkina T.V.,Russian Academy of Sciences | Kalennik O.V.,Russian Academy of Sciences | And 8 more authors.
Gematologiya i Transfusiologiya | Year: 2012

The study was carried out in 39 patients with acute lymphoblastic leukemia aged 1 day to 11 months, treated by the MLL-Baby protocol. The minimal residual disease (MRD) was detected by reverse-transcriptase polymerase chain reaction (RT-PCR) and real-time quantitative PCR (qPCR) of MLL fusion gene transcripts (FGt). Specimens without FGt detected by both RT-PCR and qPCR with sensitivity of at least 1 × 10-4 were considered MRD-negative. Bone marrow specimens were collected at the time of diagnosis, on days 15 (time point 1 - TP1) and 36 (TP2) of remission induction and after each course of all-trans retinoic acid administration (TP3-TP9). Multivariate analysis showed that two most significant parameters essential for relapse prediction in this group of patients were MRD higher than 0.1% at TP3: hazard ratio 4.250; 95% confidence interval (CI) (1.159-15.585; p = 0.029) and MRD-positivity at TP4: hazard ratio 3.771; 95%CI (1.033-13.674; p = 0.044), both parameters have similar prognostic value. Later TPs, such as TP5, did not bring any extra advantages. Source

Sharapova S.O.,Belarusian Research Center for Pediatric Oncology | Migas A.,Belarusian Research Center for Pediatric Oncology | Guryanova I.,Belarusian Research Center for Pediatric Oncology | Aleshkevich S.,Belarusian Research Center for Pediatric Oncology | And 3 more authors.
Human Immunology | Year: 2013

We report a male with atypical severe combined immunodeficiency caused by heterozygous compound mutations c.256-257del and c.C1331T in RAG1 gene. The patient presents with recurrent bronchopneumonias with obstruction, chronic fibrosing alveolitis, complicated by respiratory failure, pulmonary hypertension and hepatosplenomegaly. He was diagnosed with agammaglobulinemia at the age of 9. His condition was complicated by granulomatous skin disease at the age of 12 despite regular IVIg substitution. Immunological presentation included profound hypogammaglobulinemia and absence of B cells. Under immunoglobulin substitution for 5 years patient has permanent lymphopenia, skewed phenotype of T cells and diminished number of recent thymic emigrants. © 2012 American Society for Histocompatibility and Immunogenetics. Source

Sharapova S.O.,Belarusian Research Center for Pediatric Oncology | Guryanova I.E.,Belarusian Research Center for Pediatric Oncology | Pashchenko O.E.,Russian Clinical Childrens Hospital | Kondratenko I.V.,Russian Clinical Childrens Hospital | And 5 more authors.
Journal of Clinical Immunology | Year: 2016

Background: Omenn syndrome [Mendelian Inheritance (OMIM 603554)] is a genetic disease of the immune system, characterized by the presence of fatal generalized severe erythroderma, lymphoadenopathy, eosinophilia and profound immunodeficiency. Objective: We studied clinical and immunologic presentation of the disease manifestation among East Slavs population with genetically confirmed Omenn syndrome. Results: We collected clinical and immunologic data of 11 patients (1 from Belarus, 5 – Ukraine, 5 – Russia): 6 females, 5 males. The age of Omenn syndrome manifestation varied from the 1st day of life to 1 year and 1 month, the age of diagnosis – 20 days to 1 year and 10 months. Nine out of 11 patients had classic immunologic phenotype T(+/−)B-NK+, 1 pt had TlowB + NK+ with CD3 + TCRgd + expansion and 1 had TlowB+/−NK+ phenotype. Eight out of 11 pts had mutation in RAG1 gene, 4 out of 8 had c.368-369delAA (p.K86fsX118) in homozygous state or heterozygous compound. In our cohort of patients, we also described two new mutations in RAG genes (p.E722Q in RAG1 and p.M459R in RAG2). At present, 7/11 were transplanted and 5 out of the transplanted are alive. Conclusion: This study demonstrates that the most popular genetic abnormality in East Slavs children with Omenn syndrome is c.368-369delAA (p.K86fs118) in RAG1 gene, which may be connected with more favorable prognosis because 4/4 patients survived after hematopoietic stem cells transplantation. © 2015, Springer Science+Business Media New York. Source

Meleshko A.,Belarusian Research Center for Pediatric Oncology | Prakharenia I.,Belarusian Research Center for Pediatric Oncology | Kletski S.,Municipal Bureau of Clinical Pathology | Isaikina Y.,Belarusian Research Center for Pediatric Oncology
Pediatric Transplantation | Year: 2013

Although an infusion of culture-expanded MSCs is applied in clinic to improve results of HSCs transplantation and for a treatment of musculoskeletal disorders, homing, and engraftment potential of culture-expanded MSC in humans is still obscure. We report two female patients who received allogeneic BM transplantation as a treatment of hematological diseases and a transplantation of MSCs from third-party male donors. Both patients died within one yr of infectious complications. Specimens of paraffin-embedded blocks of tissues from transplanted patients were taken. The aim of the study was to estimate possible homing and engraftment of allogeneic BM-derived MSCs in some tissues/organs of recipient. Sensitive real-time quantitative PCR analysis was applied with SRY gene as a target. MSC chimerism was found in BM, liver, and spleen of both patients. We conclude that sensitive RQ-PCR analysis is acceptable for low-level chimerism evaluation even in paraffin-embedded tissue specimens. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. Source

Aleinikova O.V.,Belarusian Research Center for Pediatric Oncology | Fedorova A.S.,Belarusian Research Center for Pediatric Oncology | Sharapova S.O.,Belarusian Research Center for Pediatric Oncology
Cellular Therapy and Transplantation | Year: 2015

Introduction: Nijmegen breakage syndrome (NBS) is characterized by chromosome instability, combined immunodeficiency, radiosensitivity and high predisposition to lymphoid malignancy. A specific therapy is not available, however, hematopoietic stem cell transplantation (HSCT) is considered for NBS patients with refractory or recurrent leukemia or lymphoma. Purpose: We aimed to present Belarusian data in NBS diagnosis and management and to discuss indications for allo-HSCT treatment. Patients and Methods: A total of 238 patients were registered with primary immune deficiency (PID), including 19 cases of NBS. DNA was analyzed for mutation in NBN gene by direct sequencing of exon 6. Histological classification of lymphoid neoplasms was performed according to World Health Organization classification (2008). The patients were treated according to modified pediatric regimens or individually. Results: NBS accounted for 8.0% of all PID cases and was diagnosed at the age from 0.3 to 21.6 years (median 7.1). Mutation 657-661delACAAA in NBN gene and combined immunodeficiency of various degrees was confirmed in all patients. Lymphoid malignancy developed in 9 (47.4%) NBS patients ageing from 4.3 to 21.6 years (median 10.7). Acute leukemia was diagnosed in 4 patients, and stage III non-Hodgkin’s lymphoma in 5. Lymphoma/leukemia were in 7 out of 9 cases of T-cell origin. Complete remission (CR) was achieved in 66.7% of the patients.. Events were: death from infections in induction or in CR1 in 3 patients, progression/relapse in 3, second lymphoma in 1. Totally 7 NBS patients died, all after the development of malignancies. Two patients with T-mature lymphoma/leukemia did not respond to induction chemotherapy, were treated with unrelated HSCT in the 1CT and alive disease free within 6 and 13 months after transplantation. HSCT from a sibling donor was performed 9.8 years ago in a boy without malignancy but with infectious and autoimmune complications. They all received reduced-intensity conditioning regimens, which were well tolerated. Conclusions: NBS needs to be diagnosed early. With respect to progressive immunodeficiency and high risk of lymphoid malignancies with uncertain curative prospective, an allo-HSCT approach with reduced-intensity conditioning could be proposed as a treatment option for NBS patients with severe defects of immune function, and for all NBS patients with lymphoid malignancy in 1st complete remission. © 2015, Universitatsklinikum Hamburg - Eppendorf. All rights reserved. Source

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