Cell-free DNA (cfDNA) in body fluids is invaluable for cancer diagnostics. Despite the impressive potential of liquid biopsies for the diagnostics of central nervous system (CNS) tumors, a number of challenges prevent introducing this approach into routine laboratory practice. In this study, we adopt a protocol for sensitive detection of the H3 K27M somatic variant in cerebrospinal fluid (CSF) by using digital polymerase chain reaction (dPCR). Optimization of the protocol was carried out stepwise, including preamplification of the H3 target region and adjustment of dPCR conditions. The optimized protocol allowed detection of the mutant allele starting from DNA quantities as low as 9 picograms. Analytical specificity was tested using a representative group of tumor tissue samples with known H3 K27M status, and no false-positive cases were detected. The protocol was applied to a series of CSF samples collected from patients with CNS tumors (n = 18) using two alternative dPCR platforms, QX200 Droplet Digital PCR system (Bio-Rad) and QIAcuity Digital PCR System (Qiagen). In three out of four CSF specimens collected from patients with H3 K27M-positive diffuse midline glioma, both platforms allowed detection of the mutant allele. The use of ventricular access for CSF collection appears preferential, as lumbar CSF samples may produce ambiguous results. All CSF samples collected from patients with H3 wild-type tumors were qualified as H3 K27M-negative. High agreement of the quantitative data obtained with the two platforms demonstrates universality of the approach.
According to our analysis, EAD is the method of choice for PDCVJ in children with syringomyelia and Chiari-1 malformation without myelopathy symptoms. In the presence of myelopathy symptoms, intra-arachnoid dissection (with or without shunting) is an acceptable alternative. To our opinion, the use of EDD in syringomyelia is unadvisable.
Choroid plexus tumors (CPT) are rare neoplasms accounting for 2–5% of all brain tumours in children, and are most commonly under 2 years of age. Most of these tumors present with symptoms of intracranial hypertension. Survival directly depends on the histological variant of the CPT. Objective of the study: to analyze the current and outcome characteristics of patients with CPT depending on the morphological variant. This study is a multicenter, retrospective, open, uncontrolled, non-comparative, non-randomized, longitudinal study. Materials and methods of research: 152 children with CPT according to the WHO classification of CNS tumors (2007, 2016), aged 0 to 18 years, who received treatment and observed from 2009 to 2019 were included in this study. Results: 83 (54,6%) of 152 children with CPT had choroid plexus papillomas (CPPs), 37 (24,3%) – atypical choroid plexus papillomas (APPs), 32 (21,1%) – choroid plexus carcinomas (CPCs). The median age for CPP was 21 months, for APP – 6 months, for CPC – 30 months. CPTs occurred at the age of less than 24 months in 53,3% of cases. In 70,4% of cases CPT were localized in the lateral ventricles. In most children disease manifested by intracranial hypertension, and this symptomatology in children with CPC was statistically significantly more frequent than in children with CPP (p=0,0042). In 28,9% of patients with CPP, 24,3% with APP and 9,4% with CPC the disease was asymptomatic, and all these patients were diagnosed during routine preventive examination. Five-year event-free survival (EFS) and overall survival (OS) for CPP, APP and CPC were 96%±2% and 99%±1%, 81%±7% and 97%±3%, 44%±10% and 66%±10%, respectively (p<0,0001). Conclusion: for the first time in the national literature the results of a retrospective analysis of clinical characteristics and survival of children suffering from a rare group of diseases such as CPT are collected and presented.
Choroid plexus tumors (CPTs) are rare intraventricular tumors, accounting 2–5% of brain tumors in children. Choroid plexus papilloma (CPP) classified by the World Health Organization (WHO) on the basis of histological criteria as benign tumor (WHO grade I), CPPs accounts for 10–20% of brain tumors during the first year of life, the median age of patients with CPP at the time of diagnosis – 3.5 years. Atypical choroid plexus papilloma (APP) is an intermediate (WHO grade II) tumor which was officially included in the WHO classification in 2007. Median age 0,63 years. In this work, for the first time in the Russian literature, we present the outcomes of CPP and APP therapy in a large cohort of patients. The study was approved by the Independent Ethics Committee and the Scientific Council of the D. Rogachev NMRCPHOI. In our study from January 1, 2009 to December 31, 2019, 83 CPP and 37 APP were histologically verified. For all patients, surgical removal of the tumor was the first stage of treatment. In 79 (95.2%) patients with CPP and in 32 (86.5%) children with APP, radical resection was performed at the first stage. In 73.5% of children with CPP and 62.2% of children with APP there was no intra- and postoperative complications. In both CPP and APP, the 5-year EFS in patients with complete resection was statistically significantly higher compared to subtotal tumor resection (100% and 33 ± 27% in CPP, 94 ± 4% and 25 ± 22% for APP) (p < 0.001). Chemoradiation therapy was given to 1 patient with CPP, 4 patients with APP with tumor recurrence/progression.
Choroid plexus carcinomas (CPCs) are rare pediatric tumors with a generally poor prognosis. Currently there is no definite optimal treatment strategy for this neoplasm. This study is supported by the Independent Ethics Committee and approved by the Academic Council of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. This study included patients with a verified diagnosis of CPC at the age 0 to 18 years in the period from 01.01.2009 to 31.12.2019. A total of 32 patients were registered. The median age was 2.65 years; 93.5% of CPCs were localized in the lateral ventricles. Initial metastases were found in 21.8% of cases; 5-year event-free survival (EFS) in children with metastases was lower than in those who did not have metastases 29 ± 17% and 49 ± 12%. In our cohort, gross total resection (GTR) was performed in 65.6% of patients. The five-year EFS in patients with complete CPC removal was higher than in patients who underwent subtotal and partial resection (63 ± 13%, 12 ± 11%, and 0%, respectively). In addition, overall survival (OS) was slightly higher in those who underwent GTR compared with subtotal and partial resection (74 ± 12%, 67 ± 16%, and 0%, respectively). Of the 32 children with CPCs, 15 children received programm chemotherapy, 17 non-programm chemotherapy, 5-year EFS in patients who received programm and non-programm chemotherapy was 79 ± 11% and 0%, respectively (p = 0.0006), 5-year OS in patients who received programm and non-programm chemotherapy was 93 ± 7% and 36 ± 14% (p = 0.0054).
лечения бесплодия ЭКО» (ген. директор-проф. В.М. Здановский), Москва, Россия РЕЗЮМЕ Цель исследования-установить клинико-анамнестические характеристики пациенток, сопряженные с нарушениями эмбриологических показателей при проведении программ ЭКО. Материал и методы. Обследованы 80 женщин, проходящих лечение бесплодия методом ЭКО. Группу исследования составили 50 пациенток, имеющих нарушения раннего эмбриогенеза, когда не менее чем в 2 попытках лечения не оказалось эмбрионов, пригодных для переноса, группу контроля-30 женщин с хорошими показателями эмбриогенеза. Результаты. Продемонстрирован ряд достоверных различий между группой исследования и контроля: первичное бесплодие в группе исследования-62%, в группе контроля-36,7%, длительность бесплодия-6±2 и 2,6±1,5 года соответственно. Риск получения плохих эмбрионов в 4,8 раза выше при дефиците (ИМТ<19 кг/м 2) массы тела ОР=4,8 95% ДИ (0,63-36,51). Достоверные различия выявлены в структуре причин бесплодия, которая оказалась традиционной в группе контроля: трубноперитонеальный фактор-60%, эндокринный-3,3%, ассоциированный с эндометриоидными кистами яичников-10%, сочетанный-20%, неясного генеза-6,7%. У пациенток группы исследования причины бесплодия кардинально различались-неясного генеза-32%, эндокринного генеза-18%, эндометриоз яичников-14%, сочетанный-10%. В группе исследования в 2,5-5 раз чаще встречались операции на яичниках, в том числе двусторонние и повторные резекции. Выводы. Неблагоприятные показатели раннего эмбриогенеза и отсутствие эмбрионов, пригодных для переноса в неоднократных попытках ЭКО у молодых женщин, ассоциированы с первичным бесплодием неясного генеза, эндокринно-метаболическими нарушениями, низкой массой тела, повторными операциями на яичниках и длительным периодом бесплодия. Ключевые слова: нарушение раннего эмбриогенеза, бесплодие, ЭКО. ИНФОРМАЦИЯ ОБ АВТОРАХ Т.А. Назаренко-д.м.н., проф., ФГБУ «Национальный медицинский исследовательский центр акушерства, гинекологии и перинатологии им. акад. В.И. Кулакова» Минздрава России, директор научно-образовательного центра вспомогательных репродуктивных технологий Фредерика-Паулсена-старшего (НОЦ ВРТ им. Ф. Паулсена), Москва ул.
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