Pub Date : 2023-11-30DOI: 10.21682/2311-1267-2023-10-3-82-88
E. A. Kovaleva, E. Belousova, N. Matinyan, T. Ushakova
Introduction. Retinoblastoma (RB), a malignant neoplasm, is the most common pediatric intraocular tumor worldwide. With the advent of intra-arterial chemotherapy, interventional surgeons have assumed a central role in the treatment of this pediatric disease. Intra-arterial chemotherapy is a new treatment modality for RB in which chemotherapeutic agents are precisely delivered into the ocular artery, minimizing systemic toxicity. This procedure has shown impressive results and has significantly reduced the rate of enucleation in advanced and refractory RB. However, the procedure entails potentially serious acute respiratory and hemodynamic disturbances.Purpose of the study – present our experience with and features of anesthesia management in the development of life-threatening conditions during superselective intraarterial chemotherapy (SIAC) in two patients with RB.Materials and methods. We present clinical cases in 2 2-year-old patients with RB who received three courses of SIAC for RB with development of severe trigeminocardial reaction.Conclusion. SIAC is one of the new promising treatments for RB. Prominent cardiorespiratory complications are frequently observed during general anesthesia for repeated sessions of SIAC and can be potentially life-threatening. Presumably, these complications represent an autonomic reflex response to ocular catheterization. Therefore, all patients with RB who are scheduled for SIAC should be included in the high-risk group. The timing of occurrence of the trigeminocardiac reflex is predictable and temporary, but the anesthesiologist must be prepared to treat the developed complication with the help of emergency drugs (adrenaline).
{"title":"Clinical cases of successful treatment of life-threatening complications of selective intraarterial chemotherapy in children with retinoblastoma","authors":"E. A. Kovaleva, E. Belousova, N. Matinyan, T. Ushakova","doi":"10.21682/2311-1267-2023-10-3-82-88","DOIUrl":"https://doi.org/10.21682/2311-1267-2023-10-3-82-88","url":null,"abstract":"Introduction. Retinoblastoma (RB), a malignant neoplasm, is the most common pediatric intraocular tumor worldwide. With the advent of intra-arterial chemotherapy, interventional surgeons have assumed a central role in the treatment of this pediatric disease. Intra-arterial chemotherapy is a new treatment modality for RB in which chemotherapeutic agents are precisely delivered into the ocular artery, minimizing systemic toxicity. This procedure has shown impressive results and has significantly reduced the rate of enucleation in advanced and refractory RB. However, the procedure entails potentially serious acute respiratory and hemodynamic disturbances.Purpose of the study – present our experience with and features of anesthesia management in the development of life-threatening conditions during superselective intraarterial chemotherapy (SIAC) in two patients with RB.Materials and methods. We present clinical cases in 2 2-year-old patients with RB who received three courses of SIAC for RB with development of severe trigeminocardial reaction.Conclusion. SIAC is one of the new promising treatments for RB. Prominent cardiorespiratory complications are frequently observed during general anesthesia for repeated sessions of SIAC and can be potentially life-threatening. Presumably, these complications represent an autonomic reflex response to ocular catheterization. Therefore, all patients with RB who are scheduled for SIAC should be included in the high-risk group. The timing of occurrence of the trigeminocardiac reflex is predictable and temporary, but the anesthesiologist must be prepared to treat the developed complication with the help of emergency drugs (adrenaline).","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":"86 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139206634","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-11-30DOI: 10.21682/2311-1267-2023-10-3-41-47
Kh. A. Aleskerova, O. M. Romantsova, V. V. Khairullova, M. M. Efimova, V. Y. Panarina, K. Kirgizov
Introduction. Methotrexate is one of the main chemotherapeutic agents of group antimetabolits, includes in the first line of therapy against osteosarcoma. The drug uses in dose 12 g/m2 according to the protocol EURAMOS-1. The range of methotrexate-induced complications includes renal toxity, hepatotoxicity, myelosuppression, skin and mucosal ulcerations, dyspeptic disorders. One of the formidable, but reversible complications, is methotrexate-induced transient encephalopathy (MIE), the clinical manifestations of which occur in more than 15 % of patients in the treatment of which high doses of methotrexate (HD MTX) are used.Materials and methods. At the Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov at N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia the period from 2013 to 2023 10 cases of MIE were recorded. All patients received therapy according to the protocol EURAMOS-1. The 4 out of 10 patients had a delay in the rate of elimination of HD MTX after the course of chemotherapy. No one patient had electrolyte disturbances with using HD MTX. The median occurrence of the complication’s emerging was 7 days (from 5 to 10 from the start of therapy) and most often developed after 3 courses of methotrexate 12 g/m2 , which corresponds in total 6 doses of methotrexate. Neurological symptoms: headache, visual impairment, aphasia, convulsions were transient and resolved after an average of 24 hours from the start of the treatment.Results. All 10 patients received obligatory alkalization, massive infusion therapy, neuroprotective drugs, as well as decongestant therapy as a treatment of MIE. Subsequently, therapy with methotrexate was continued for the 9 of 10 patients.Conclusions. The standard recommendations for the treatment of MIE do not currently exist. However, the development of severe neurotoxicity does not exclude the possibility of further using of HD MTX in the treatment program
{"title":"Methotrexate-induced transient encephalopathy. The experience of the Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov at N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia","authors":"Kh. A. Aleskerova, O. M. Romantsova, V. V. Khairullova, M. M. Efimova, V. Y. Panarina, K. Kirgizov","doi":"10.21682/2311-1267-2023-10-3-41-47","DOIUrl":"https://doi.org/10.21682/2311-1267-2023-10-3-41-47","url":null,"abstract":"Introduction. Methotrexate is one of the main chemotherapeutic agents of group antimetabolits, includes in the first line of therapy against osteosarcoma. The drug uses in dose 12 g/m2 according to the protocol EURAMOS-1. The range of methotrexate-induced complications includes renal toxity, hepatotoxicity, myelosuppression, skin and mucosal ulcerations, dyspeptic disorders. One of the formidable, but reversible complications, is methotrexate-induced transient encephalopathy (MIE), the clinical manifestations of which occur in more than 15 % of patients in the treatment of which high doses of methotrexate (HD MTX) are used.Materials and methods. At the Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov at N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia the period from 2013 to 2023 10 cases of MIE were recorded. All patients received therapy according to the protocol EURAMOS-1. The 4 out of 10 patients had a delay in the rate of elimination of HD MTX after the course of chemotherapy. No one patient had electrolyte disturbances with using HD MTX. The median occurrence of the complication’s emerging was 7 days (from 5 to 10 from the start of therapy) and most often developed after 3 courses of methotrexate 12 g/m2 , which corresponds in total 6 doses of methotrexate. Neurological symptoms: headache, visual impairment, aphasia, convulsions were transient and resolved after an average of 24 hours from the start of the treatment.Results. All 10 patients received obligatory alkalization, massive infusion therapy, neuroprotective drugs, as well as decongestant therapy as a treatment of MIE. Subsequently, therapy with methotrexate was continued for the 9 of 10 patients.Conclusions. The standard recommendations for the treatment of MIE do not currently exist. However, the development of severe neurotoxicity does not exclude the possibility of further using of HD MTX in the treatment program","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":"249 17","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139203517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-11-30DOI: 10.21682/2311-1267-2023-10-3-55-62
T. Z. Aliev, E. Machneva, I. Kostareva, K. Sergeenko, N. Burlaka, L. M. Kudaeva, T. I. Potemkina, Yu. V. Lozovan, D. S. Smirnova, A. S. Slinin, K. Kirgizov, S. Varfolomeeva
Hematopoietic stem cell transplantation (HSCT) is a treatment method for a number of severe malignant and non-tumor diseases. Autologous (auto) and allogeneic (allo) HSCT improves outcomes in patients with solid and hematological malignancies. The toxicity of conditioning regimens before HSCT is often a limiting factor for successful transplant outcomes. The most common manifestations of visceral and tissue toxicity are epithelial (dermatological and mucosal) toxicity, hepatotoxicity, and neurotoxicity. Reducing the incidence of toxic complications of preparative regimens preceding HSCT is the optimization of accompanying therapy, and and individualized selection of doses of chemotherapy. In our study, among 119 HSCT cases performed in 2021–2022, treosulfan-containing preparative regimens were used. Dermatological toxicity was diagnosed in 80.0 %, mucositis – in 100 %, hepatotoxicity – in 18.5 % of observations, no neurological toxicity was recorded.
{"title":"Toxic complications of high doses of treîsulfan in children: experience of the N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia","authors":"T. Z. Aliev, E. Machneva, I. Kostareva, K. Sergeenko, N. Burlaka, L. M. Kudaeva, T. I. Potemkina, Yu. V. Lozovan, D. S. Smirnova, A. S. Slinin, K. Kirgizov, S. Varfolomeeva","doi":"10.21682/2311-1267-2023-10-3-55-62","DOIUrl":"https://doi.org/10.21682/2311-1267-2023-10-3-55-62","url":null,"abstract":"Hematopoietic stem cell transplantation (HSCT) is a treatment method for a number of severe malignant and non-tumor diseases. Autologous (auto) and allogeneic (allo) HSCT improves outcomes in patients with solid and hematological malignancies. The toxicity of conditioning regimens before HSCT is often a limiting factor for successful transplant outcomes. The most common manifestations of visceral and tissue toxicity are epithelial (dermatological and mucosal) toxicity, hepatotoxicity, and neurotoxicity. Reducing the incidence of toxic complications of preparative regimens preceding HSCT is the optimization of accompanying therapy, and and individualized selection of doses of chemotherapy. In our study, among 119 HSCT cases performed in 2021–2022, treosulfan-containing preparative regimens were used. Dermatological toxicity was diagnosed in 80.0 %, mucositis – in 100 %, hepatotoxicity – in 18.5 % of observations, no neurological toxicity was recorded.","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":"126 20","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139197330","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-11-30DOI: 10.21682/2311-1267-2023-10-3-63-69
A. V. Tarakanova, A. Sharlai, A. Druy, D. M. Konovalov
Clinical heterogeneity appears to be one of the most characteristic feature of the group of peripheral neuroblastic tumors, ranging from spontaneous tumor regression to a widespread process, often resistant to multimodal therapeutic strategies. Despite significant progress in treatment, about 40 % of patients with high-risk neuroblastoma die from disease recurrence after complete response to first-line therapy. These 40 % are considered a “extremely high” risk group requiring intensification of therapeutic regimens from the time of diagnosis. Histological and molecular predictive features of this group are of high scientific and practical interest for the correct therapy.
{"title":"Extremely high prognostic risk group of neuroblastic tumors: histological, immunophenotypic and genetic characteristics. Literature review and own observations","authors":"A. V. Tarakanova, A. Sharlai, A. Druy, D. M. Konovalov","doi":"10.21682/2311-1267-2023-10-3-63-69","DOIUrl":"https://doi.org/10.21682/2311-1267-2023-10-3-63-69","url":null,"abstract":"Clinical heterogeneity appears to be one of the most characteristic feature of the group of peripheral neuroblastic tumors, ranging from spontaneous tumor regression to a widespread process, often resistant to multimodal therapeutic strategies. Despite significant progress in treatment, about 40 % of patients with high-risk neuroblastoma die from disease recurrence after complete response to first-line therapy. These 40 % are considered a “extremely high” risk group requiring intensification of therapeutic regimens from the time of diagnosis. Histological and molecular predictive features of this group are of high scientific and practical interest for the correct therapy.","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":" 30","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139206873","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-11-30DOI: 10.21682/2311-1267-2023-10-3-89-100
A. Rodina, V. Polyakov, A. Krylov, V. V. Semenova, V. M. Kozlova, T. Nasedkina, A. L. Kashanina, N. A. Kozlov, V. V. Migunova, T. Gorbunova
Introduction. Hereditary disorders in the DNA repair system can lead to the development of malignant neoplasms in childhood. DNA constitutional mismatch repair deficiency syndrome (CMMRD) is a very rare genetic autosomal recessive disorder caused by homozygous mutations in one of the four mismatch repair genes (MLH1, MSH2, MSH6, and PMS2). The frequency of occurrence is 0.0000001 of the adult and child population. For now about 150 observations have been published in the world literature. The prognosis for CMMRD syndrome is extremely unfavorable. The spectrum of tumors that make up the CMMRD syndrome is very wide, and includes mainly malignant brain tumors, tumors of the digestive tract, hematological malignancies, embryonic tumors, all of which develop in childhood.The purpose of the study is to report a case of CMMRD-associated embryonic rhabdomyosarcoma in a 3-year-old child.Conclusions. A review of the literature and the clinical case we have described show that rhabdomyosarcoma belongs to the tumor spectrum of the CMMRD syndrome. An immunohistochemical study revealed an isolated loss of PMS2 gene expression. Taking into account the clinical course of the CMMRD syndrome, a thorough study of the family history in patients with rhabdomyosarcoma is recommended, as well as a molecular genetic study, including the search for germinal mutations in genes in the DNA repair system and the assessment of microsatellite instability in the material of the tumor tissue. The clinical symptoms of CMMRD syndrome are nonspecific and depend on the morphological variant of the primary tumor. Distinctive molecular genetic features of this syndrome are: homozygous mutations with loss of function of the germline genes of the MMR system (mismatch repair) (MLH1, MSH2, MSH6 or PMS2).
{"title":"CMMRD-associated embryonic rhabdomyosarcoma in a child. Clinical case with literature review","authors":"A. Rodina, V. Polyakov, A. Krylov, V. V. Semenova, V. M. Kozlova, T. Nasedkina, A. L. Kashanina, N. A. Kozlov, V. V. Migunova, T. Gorbunova","doi":"10.21682/2311-1267-2023-10-3-89-100","DOIUrl":"https://doi.org/10.21682/2311-1267-2023-10-3-89-100","url":null,"abstract":"Introduction. Hereditary disorders in the DNA repair system can lead to the development of malignant neoplasms in childhood. DNA constitutional mismatch repair deficiency syndrome (CMMRD) is a very rare genetic autosomal recessive disorder caused by homozygous mutations in one of the four mismatch repair genes (MLH1, MSH2, MSH6, and PMS2). The frequency of occurrence is 0.0000001 of the adult and child population. For now about 150 observations have been published in the world literature. The prognosis for CMMRD syndrome is extremely unfavorable. The spectrum of tumors that make up the CMMRD syndrome is very wide, and includes mainly malignant brain tumors, tumors of the digestive tract, hematological malignancies, embryonic tumors, all of which develop in childhood.The purpose of the study is to report a case of CMMRD-associated embryonic rhabdomyosarcoma in a 3-year-old child.Conclusions. A review of the literature and the clinical case we have described show that rhabdomyosarcoma belongs to the tumor spectrum of the CMMRD syndrome. An immunohistochemical study revealed an isolated loss of PMS2 gene expression. Taking into account the clinical course of the CMMRD syndrome, a thorough study of the family history in patients with rhabdomyosarcoma is recommended, as well as a molecular genetic study, including the search for germinal mutations in genes in the DNA repair system and the assessment of microsatellite instability in the material of the tumor tissue. The clinical symptoms of CMMRD syndrome are nonspecific and depend on the morphological variant of the primary tumor. Distinctive molecular genetic features of this syndrome are: homozygous mutations with loss of function of the germline genes of the MMR system (mismatch repair) (MLH1, MSH2, MSH6 or PMS2).","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":"32 14","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139206116","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-11-29DOI: 10.21682/2311-1267-2023-10-3-22-40
O. Zheludkova, L. V. Olkhova, M. Ryzhova, L. V. Shishkina, Y. Kushel’, A. Melikyan, S. K. Gorelyshev, A. Golanov, Y. Trunin, N. Vorobyov, N. A. Plakhotina, K. Boiko, A. S. Levashov, O. Polushkina, D. Y. Korneev, T. V. Postnikova, I. Borodina, A. N. Kislyakov, D. Skobeev, S. Gorbatykh, S. Ozerov, E. Skorobogatova, E. Inyushkina, V. Popov, M. Mushinskaya, S. G. Kovalenko, D. Pogorelov, N. Yudina, A. Zaychikov, R. R. Bayramgulov, D. Sakun, L. Minkina, E. Matsekha, N. V. Tsyrenova, E. N. Grishina, M. V. Borisova, A. F. Matytsyn, T. B. Fedorova, Y. Dinikina, V. V. Martynenko, A. Shapochnik, I. M. Yunusova, V. A. Mitrofanov, A. A. Rumyantsev, I. Fisyun, V. Timofeeva, A. V. Shamin, A. M. Markovsky, G. V. Bykova, N. A. Popova, N. V. Kochukova, E. A. Ostanina, A. A. Pshenichnikova
Medulloblastomas of the WNT molecular group (MB-WNT) represent the smallest group of MB and account for only 10 % of the total. This molecular group is characterized by a favorable prognosis. Given the aggressive treatment regimens for MB, reducing the intensity of therapy for prognostically favorable tumors seems justified. Purpose of the study – to demonstrate the results of treatment of children with MB-WNT and to determine the impact on survival of various prognostic factors. The study included 85 patients with MB-WNT under the age of 18 who received treatment and were followed up from 1993 to 2022. Median age at diagnosis was 10 years (min – 3, max – 17). All patients had classical MB. Metastatic spread of the tumor at the time of diagnosis was detected in 18 (21.2 %) patients, the presence of a residual tumor according to postoperative magnetic resonance imaging – in 32 (37.7 %). Somatic mutations in the TP53 gene were detected in 10 (7.1 %) patients, in the CTNNB1 gene – in 79 (92.9 %), in the APC gene – in 5 (5.9 %), chromosome 6 monosomy – in 76 (89.4 %) children. At the time of the analysis, 74 (87.1 %) patients were alive, 11 (12.9 %) patients died, a relapse was diagnosed in 6 (7.1 %) patients, of which 5 died from disease progression, 1 patient is alive in the second remission. One patient in long-term remission developed secondary meningioma 20 years after the diagnosis of MB. The 10-year progression-free survival (PFS) was 0.92. 5-year overall survival (OS) was 0.90, 10-year – 0.86. The median OS is 112 months. When analyzing the sample of patients with MB-WNT in our study, PFS and OS were statistically significantly higher in girls without metastatic tumor spread, with total resection of the tumor, stratified into the low-risk group, and in the absence of a somatic mutation in the TP53 gene in the tumor tissue. In multivariate analysis, PFS was influenced by the stage of the disease and the presence of a somatic mutation in the TP53 gene in the tumor tissue; on OS – only the presence of a somatic mutation in the TP53 gene in the tumor tissue.
{"title":"Results of a multicenter study of the treatment of WNT medulloblastomas in children","authors":"O. Zheludkova, L. V. Olkhova, M. Ryzhova, L. V. Shishkina, Y. Kushel’, A. Melikyan, S. K. Gorelyshev, A. Golanov, Y. Trunin, N. Vorobyov, N. A. Plakhotina, K. Boiko, A. S. Levashov, O. Polushkina, D. Y. Korneev, T. V. Postnikova, I. Borodina, A. N. Kislyakov, D. Skobeev, S. Gorbatykh, S. Ozerov, E. Skorobogatova, E. Inyushkina, V. Popov, M. Mushinskaya, S. G. Kovalenko, D. Pogorelov, N. Yudina, A. Zaychikov, R. R. Bayramgulov, D. Sakun, L. Minkina, E. Matsekha, N. V. Tsyrenova, E. N. Grishina, M. V. Borisova, A. F. Matytsyn, T. B. Fedorova, Y. Dinikina, V. V. Martynenko, A. Shapochnik, I. M. Yunusova, V. A. Mitrofanov, A. A. Rumyantsev, I. Fisyun, V. Timofeeva, A. V. Shamin, A. M. Markovsky, G. V. Bykova, N. A. Popova, N. V. Kochukova, E. A. Ostanina, A. A. Pshenichnikova","doi":"10.21682/2311-1267-2023-10-3-22-40","DOIUrl":"https://doi.org/10.21682/2311-1267-2023-10-3-22-40","url":null,"abstract":"Medulloblastomas of the WNT molecular group (MB-WNT) represent the smallest group of MB and account for only 10 % of the total. This molecular group is characterized by a favorable prognosis. Given the aggressive treatment regimens for MB, reducing the intensity of therapy for prognostically favorable tumors seems justified. Purpose of the study – to demonstrate the results of treatment of children with MB-WNT and to determine the impact on survival of various prognostic factors. The study included 85 patients with MB-WNT under the age of 18 who received treatment and were followed up from 1993 to 2022. Median age at diagnosis was 10 years (min – 3, max – 17). All patients had classical MB. Metastatic spread of the tumor at the time of diagnosis was detected in 18 (21.2 %) patients, the presence of a residual tumor according to postoperative magnetic resonance imaging – in 32 (37.7 %). Somatic mutations in the TP53 gene were detected in 10 (7.1 %) patients, in the CTNNB1 gene – in 79 (92.9 %), in the APC gene – in 5 (5.9 %), chromosome 6 monosomy – in 76 (89.4 %) children. At the time of the analysis, 74 (87.1 %) patients were alive, 11 (12.9 %) patients died, a relapse was diagnosed in 6 (7.1 %) patients, of which 5 died from disease progression, 1 patient is alive in the second remission. One patient in long-term remission developed secondary meningioma 20 years after the diagnosis of MB. The 10-year progression-free survival (PFS) was 0.92. 5-year overall survival (OS) was 0.90, 10-year – 0.86. The median OS is 112 months. When analyzing the sample of patients with MB-WNT in our study, PFS and OS were statistically significantly higher in girls without metastatic tumor spread, with total resection of the tumor, stratified into the low-risk group, and in the absence of a somatic mutation in the TP53 gene in the tumor tissue. In multivariate analysis, PFS was influenced by the stage of the disease and the presence of a somatic mutation in the TP53 gene in the tumor tissue; on OS – only the presence of a somatic mutation in the TP53 gene in the tumor tissue.","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139211095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-11-29DOI: 10.21682/2311-1267-2023-10-3-15-21
E. Petrova, L. V. Olkhova, S. A. Galstyan, E. N. Telysheva, O. Zheludkova, M. Ryzhova
Glioblastomas are malignant tumors that belong to the central nervous system and are challenging to diagnose due to their significant intratumoral heterogeneity, which makes molecular testing and diagnosis confirmation particularly difficult. In addition to identifying typical genetic mutations such as IDH, H3F3A G34 and K27, WHO recommendations emphasize the importance of analyzing the tumor epigenome to define its class based on DNA methylation patterns and methylation status of specific genomic regions, particularly the MGMT promoter region. Based on our clinical experience, molecular genetic studies sometimes yield contradictory results due to the heterogeneous cellular composition of glioblastomas. In this study, we present a series of observations made on 35 glioblastoma samples in which we compare the morphological features and the results of cell type detection by deconvolution method based on total DNA methylation profiles. Our results suggest that samples of mesenchymal class glioblastomas may contain over 50 % non-tumor immune cells, which should be considered in genetic testing of these tumors.
胶质母细胞瘤是属于中枢神经系统的恶性肿瘤，由于其瘤内异质性显著，因此诊断具有挑战性，这使得分子检测和诊断确认尤为困难。除了鉴别 IDH、H3F3A G34 和 K27 等典型基因突变外，世卫组织的建议还强调了分析肿瘤表观基因组的重要性，以根据 DNA 甲基化模式和特定基因组区域（尤其是 MGMT 启动子区域）的甲基化状态来确定其类别。根据我们的临床经验，由于胶质母细胞瘤细胞组成的异质性，分子遗传学研究有时会得出相互矛盾的结果。在本研究中，我们对 35 个胶质母细胞瘤样本进行了一系列观察，比较了形态学特征和基于总 DNA 甲基化图谱的解卷积法检测细胞类型的结果。我们的结果表明，间质类胶质母细胞瘤样本中可能含有 50% 以上的非肿瘤免疫细胞，在对这些肿瘤进行基因检测时应考虑到这一点。
{"title":"Analysis of DNA methylation profiles confirms a high proportion of immune cells in glioblastoma samples","authors":"E. Petrova, L. V. Olkhova, S. A. Galstyan, E. N. Telysheva, O. Zheludkova, M. Ryzhova","doi":"10.21682/2311-1267-2023-10-3-15-21","DOIUrl":"https://doi.org/10.21682/2311-1267-2023-10-3-15-21","url":null,"abstract":"Glioblastomas are malignant tumors that belong to the central nervous system and are challenging to diagnose due to their significant intratumoral heterogeneity, which makes molecular testing and diagnosis confirmation particularly difficult. In addition to identifying typical genetic mutations such as IDH, H3F3A G34 and K27, WHO recommendations emphasize the importance of analyzing the tumor epigenome to define its class based on DNA methylation patterns and methylation status of specific genomic regions, particularly the MGMT promoter region. Based on our clinical experience, molecular genetic studies sometimes yield contradictory results due to the heterogeneous cellular composition of glioblastomas. In this study, we present a series of observations made on 35 glioblastoma samples in which we compare the morphological features and the results of cell type detection by deconvolution method based on total DNA methylation profiles. Our results suggest that samples of mesenchymal class glioblastomas may contain over 50 % non-tumor immune cells, which should be considered in genetic testing of these tumors.","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":"45 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139212229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-11-28DOI: 10.21682/2311-1267-2023-10-3-11-14
I. Melnichenko, R. Papyan, Y. Margaryan, E. Minasyan, S. Hovhannisyan, M. Minasyan, M. Petrosyan, L. Hambardzumyan, H. Grigoryan, S. Hovsepyan, L. Krmoyan, L. Hakobyan, S. Iskanyan, S. Danielyan, L. Vagharshakyan, N. Azizyan, M. Grigoryan, S. Atoyan, G. Tamamyan, L. Sargsyan
Background and aims. Immunocompromised pediatric patients with cancer are more susceptible to experiencing severe COVID-19 infection compared to other children. In a global registry study of childhood cancer with COVID-19, involving 1500 patients, severe of critical infections were detected in 20 % of the cases. The mortality rate of 4 % excelled that of the general pediatric population. Data about the development of COVID-19 complications in children with cancer remains limited and varies across different countries. This study aims to describe the incidence and characteristics of COVID-19 infection in children with cancer in Armenia.Methods. A prospective analysis was conducted on PCR-confirmed cases of COVID-19 infection in children with cancer aged 0–18 years from 2020 to 2022 at the Pediatric Cancer and Blood Disorders Center of Armenia, Yeolyan Hematology Center, the only pediatric hematology/ oncology institution in our country.Results. Between June 2020 and March 2022, we studied 201 children with cancer in Armenia, of whom 35 cases of COVID-19 infection were confirmed. The median age was 8.4, and the male/female ratio was 1.3. Among the COVID-19-positive patients, 15 had acute lymphoblastic leukemia, 5 had lymphomas, 4 patients had neuroblastoma, and 2 each had medulloblastoma, rhabdomyosarcoma and Ewing sarcoma. There were single cases of osteosarcoma, acute myeloid leukemia and malignant triton tumor. Twenty patients (57 %) were asymptomatic, and the rest presented with fever, sore throat, and cough. Among the patients with hematological malignancies, four developed pneumonia, and two of them experienced cancer progression subsequently. Additionally, four patients had pancytopenia/thrombocytopenia, likely due to the infection with the Omicron in the last three months of the mentioned period. Overall, the incidence of COVID-19 complications was 11 %, and mortality was zero.Conclusion. This is the first nationwide report on COVID-19 in children with cancer in Armenia. The findings indicate lower rates of severe infection and mortality among compared to global estimates. Further studies are emerging to explore these differences.
{"title":"COVID-19 infection in children with cancer in Armenia: report for the whole pandemic period","authors":"I. Melnichenko, R. Papyan, Y. Margaryan, E. Minasyan, S. Hovhannisyan, M. Minasyan, M. Petrosyan, L. Hambardzumyan, H. Grigoryan, S. Hovsepyan, L. Krmoyan, L. Hakobyan, S. Iskanyan, S. Danielyan, L. Vagharshakyan, N. Azizyan, M. Grigoryan, S. Atoyan, G. Tamamyan, L. Sargsyan","doi":"10.21682/2311-1267-2023-10-3-11-14","DOIUrl":"https://doi.org/10.21682/2311-1267-2023-10-3-11-14","url":null,"abstract":"Background and aims. Immunocompromised pediatric patients with cancer are more susceptible to experiencing severe COVID-19 infection compared to other children. In a global registry study of childhood cancer with COVID-19, involving 1500 patients, severe of critical infections were detected in 20 % of the cases. The mortality rate of 4 % excelled that of the general pediatric population. Data about the development of COVID-19 complications in children with cancer remains limited and varies across different countries. This study aims to describe the incidence and characteristics of COVID-19 infection in children with cancer in Armenia.Methods. A prospective analysis was conducted on PCR-confirmed cases of COVID-19 infection in children with cancer aged 0–18 years from 2020 to 2022 at the Pediatric Cancer and Blood Disorders Center of Armenia, Yeolyan Hematology Center, the only pediatric hematology/ oncology institution in our country.Results. Between June 2020 and March 2022, we studied 201 children with cancer in Armenia, of whom 35 cases of COVID-19 infection were confirmed. The median age was 8.4, and the male/female ratio was 1.3. Among the COVID-19-positive patients, 15 had acute lymphoblastic leukemia, 5 had lymphomas, 4 patients had neuroblastoma, and 2 each had medulloblastoma, rhabdomyosarcoma and Ewing sarcoma. There were single cases of osteosarcoma, acute myeloid leukemia and malignant triton tumor. Twenty patients (57 %) were asymptomatic, and the rest presented with fever, sore throat, and cough. Among the patients with hematological malignancies, four developed pneumonia, and two of them experienced cancer progression subsequently. Additionally, four patients had pancytopenia/thrombocytopenia, likely due to the infection with the Omicron in the last three months of the mentioned period. Overall, the incidence of COVID-19 complications was 11 %, and mortality was zero.Conclusion. This is the first nationwide report on COVID-19 in children with cancer in Armenia. The findings indicate lower rates of severe infection and mortality among compared to global estimates. Further studies are emerging to explore these differences.","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":"25 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139226495","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-07-27DOI: 10.46563/1560-9561-2023-26-3-205-211
D. V. Sutovskaya, Polina A. Pyzhyanova, Ekaterina V. Gabdullina, Anastasia A. Makunts, Anna V. Kuzmenko
Introduction. The relatively stable incidence of most controlled infections shifts the focus of public attention from the need for vaccination to the likelihood of post-vaccination complications. Aim. To examine the adherence of various population groups and health workers to vaccine prophylaxis and analyze the reasons for anti-vaccination scepticism. Materials and methods. A survey was conducted on the attitudes towards vaccination among one thousand nine hundred thirty nine respondents including 485 doctors of various specialties (163 pediatricians, 86 surgeons, 85 obstetricians-gynecologists, 76 neurologists, 75 neonatologists), 117 nurses, 295 parents, 1042 students. The significance of differences was assessed using Student’s t-test. Results. An insufficient level of adherence to vaccine prophylaxis has been established: 43.1% of parents vaccinate their children selectively, 35.4% according to the national calendar, 17.1% refuse categorically, and 4.4% have a medical refusal. The main reason for refusal is fear of complications (30%). Less than half receive information from health workers (45.6%), the main source being the media (49.1%). Among health workers, adherence to vaccine prophylaxis is highest among pediatricians (86.1%), significantly lower among neurologists (35.6%), surgeons (43.7%), obstetricians-gynecologists (62.6%), nurses (79.5%). The main reason for distrust of vaccination is fear of post-vaccination complications, narrow specialists more often choose the answer “better to get sick”. Among medical university students there is a significantly higher adherence among senior students in paediatrics (63.6%) compared to students in undergraduate (40.8%) and medical school (48.8%). However, 5% of those surveyed do not plan to vaccinate their children in the future. Polytechnic students have a more negative attitude towards vaccination accounted for only 36.4% vaccinated according to the National Calendar and 30% do not plan to vaccinate their children in the future. Conclusion. There is a clear need for additional training programs on vaccination to raise the awareness of health care workers on this issue, which will provide a strong rationale for the importance of immunization to patients and their parents.
{"title":"Commitment of health workers and various population groups to vaccination","authors":"D. V. Sutovskaya, Polina A. Pyzhyanova, Ekaterina V. Gabdullina, Anastasia A. Makunts, Anna V. Kuzmenko","doi":"10.46563/1560-9561-2023-26-3-205-211","DOIUrl":"https://doi.org/10.46563/1560-9561-2023-26-3-205-211","url":null,"abstract":"Introduction. The relatively stable incidence of most controlled infections shifts the focus of public attention from the need for vaccination to the likelihood of post-vaccination complications. \u0000Aim. To examine the adherence of various population groups and health workers to vaccine prophylaxis and analyze the reasons for anti-vaccination scepticism. \u0000Materials and methods. A survey was conducted on the attitudes towards vaccination among one thousand nine hundred thirty nine respondents including 485 doctors of various specialties (163 pediatricians, 86 surgeons, 85 obstetricians-gynecologists, 76 neurologists, 75 neonatologists), 117 nurses, 295 parents, 1042 students. The significance of differences was assessed using Student’s t-test. \u0000Results. An insufficient level of adherence to vaccine prophylaxis has been established: 43.1% of parents vaccinate their children selectively, 35.4% according to the national calendar, 17.1% refuse categorically, and 4.4% have a medical refusal. The main reason for refusal is fear of complications (30%). Less than half receive information from health workers (45.6%), the main source being the media (49.1%). Among health workers, adherence to vaccine prophylaxis is highest among pediatricians (86.1%), significantly lower among neurologists (35.6%), surgeons (43.7%), obstetricians-gynecologists (62.6%), nurses (79.5%). The main reason for distrust of vaccination is fear of post-vaccination complications, narrow specialists more often choose the answer “better to get sick”. Among medical university students there is a significantly higher adherence among senior students in paediatrics (63.6%) compared to students in undergraduate (40.8%) and medical school (48.8%). However, 5% of those surveyed do not plan to vaccinate their children in the future. Polytechnic students have a more negative attitude towards vaccination accounted for only 36.4% vaccinated according to the National Calendar and 30% do not plan to vaccinate their children in the future. \u0000Conclusion. There is a clear need for additional training programs on vaccination to raise the awareness of health care workers on this issue, which will provide a strong rationale for the importance of immunization to patients and their parents.","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":"17 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84913060","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-07-27DOI: 10.46563/1560-9561-2023-26-3-194-198
E. Satvaldieva, O. Fayziev, A. Yusupov, Shaira A. Agzamova, Yakupdjan N. Fayziev
Introduction. In pediatrics, the study of pain has also become a highly relevant task, which is intensively studied in the framework of pediatric surgery, oncology, anesthesiology, neurology, cardiology, gastroenterology, rheumatology, not counting palliative medicine, age-related physiology. Materials and methods. The study was conducted during the postoperative period in thirty four patients after urological surgery. For an objective assessment of the effectiveness of anesthesia, the following research methods were used: a clinical study with the determination of the intensity of pain on a visual analogue scale (VAS) and the determination of blood pressure, pulse oximetry, and echocardiographic study of central hemodynamic parameters. Results. Studies of the clinical picture over the course of the postoperative period with monitoring of blood pressure, oxygen saturation, pulse oximetry, studies of the subjective assessment of pain intensity according to VAS, and an echocardiographic method for studying central hemodynamic parameters showed the relative stability of patients after adequate pain relief. Conclusions. Multimodal epidural analgesia based on bupivacaine at a dose of 1.0 mg/kg reduces early postoperative complications, promotes rapid rehabilitation and recovery.
{"title":"Epidural anesthesia as the component of postoperative analgesia in children","authors":"E. Satvaldieva, O. Fayziev, A. Yusupov, Shaira A. Agzamova, Yakupdjan N. Fayziev","doi":"10.46563/1560-9561-2023-26-3-194-198","DOIUrl":"https://doi.org/10.46563/1560-9561-2023-26-3-194-198","url":null,"abstract":"Introduction. In pediatrics, the study of pain has also become a highly relevant task, which is intensively studied in the framework of pediatric surgery, oncology, anesthesiology, neurology, cardiology, gastroenterology, rheumatology, not counting palliative medicine, age-related physiology. \u0000Materials and methods. The study was conducted during the postoperative period in thirty four patients after urological surgery. For an objective assessment of the effectiveness of anesthesia, the following research methods were used: a clinical study with the determination of the intensity of pain on a visual analogue scale (VAS) and the determination of blood pressure, pulse oximetry, and echocardiographic study of central hemodynamic parameters. \u0000Results. Studies of the clinical picture over the course of the postoperative period with monitoring of blood pressure, oxygen saturation, pulse oximetry, studies of the subjective assessment of pain intensity according to VAS, and an echocardiographic method for studying central hemodynamic parameters showed the relative stability of patients after adequate pain relief. \u0000Conclusions. Multimodal epidural analgesia based on bupivacaine at a dose of 1.0 mg/kg reduces early postoperative complications, promotes rapid rehabilitation and recovery.","PeriodicalId":52396,"journal":{"name":"Russian Journal of Pediatric Hematology and Oncology","volume":"36 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76160526","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：