Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2023; 22: 12-20
Использование цифровой капельной полимеразной цепной реакции для молекулярной диагностики и мониторинга ответа на терапию при гистиоцитозе из клеток Лангерганса с мутацией BRAF V600E
https://doi.org/10.24287/1726-1708-2023-22-1-12-20Аннотация
В данной статье показаны возможности высокочувствительного метода цифровой капельной полимеразной цепной реакции в диагностике и мониторинге аллельной нагрузки мутации BRAF V600E в свободно циркулирующей ДНК, а также в популяции миелоидных предшественников костного мозга в группе пациентов с гистиоцитозом из клеток Лангерганса. Применение данной методики поможет определить подходы к оценке минимальной остаточной болезни, а также улучшить понимание распространенности процесса и патогенеза гистиоцитоза из клеток Лангерганса. Исследование одобрено независимым этическим комитетом и утверждено решением ученого совета НМИЦ ДГОИ им. Дмитрия Рогачева.
Список литературы
1. Haupt R., Minkov M., Astigarraga I., Schäfer E., Nanduri V., Jubran R., et al. Langerhans cell histiocytosis (LCH): guidelines for diagnosis, clinical work-up, and treatment for patients till the age of 18 years. Pediatr Blood Cancer 2013; 60 (2): 175–84.
2. Harmon C.M., Brown N. Langerhans Cell Histiocytosis A Clinicopathologic Review and Molecular Pathogenetic Update. Arch Pathol Lab Med 2015; 139: 1211–4.
3. Badalian-Very G., Vergilio J.-A., Degar B.A., MacConaill L.E., Brandner B., Calicchio M.L., et al. Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood 2010; 116 (11): 1919–23.
4. Wei R., Wang Z., Li X., Shu Y., Fu B. Frequent BRAFV600E mutation has no effect on tumor invasiveness in patients with Langerhans cell histiocytosis. Biomed Rep 2013; 1(3): 365–8.
5. Bigenwald C., Le Berichel J., Matthias Wilk C., Chakraborty R, Chen S.T., Tabachnikova A., et al. BRAFV600E-induced senescence drives Langerhans cell histiocytosis pathophysiology. Nat Med 2021; 27 (5): 851.
6. Berres M.-L., Phaik Har Lim K., Peters T., Price J., Takizawa H., Salmon H., et al. BRAF-V600E expression in precursor versus differentiated dendritic cells defines clinically distinct LCH risk groups. J Exp Med 2014; 211 (4) 669–83.
7. Xiao Y., van Halteren A.G.S., Lei X., Borst J., Steenwijk E., de Wit T., et al. Bone marrow-derived myeloid progenitors as driver mutation carriers in high- And low-risk Langerhans cell histiocytosis. Blood 2020; 136 (19): 2188–99.
8. LCH-IV, International Collaborative Treatment Protocol for Children and Adolescents With Langerhans Cell Histiocytosis – Full Text View – ClinicalTrials.gov [Electronic resource]. URL: https://clinicaltrials.gov/ct2/show/NCT02205762 (accessed 26.10.2022).
9. Проспективное нерандомизированное клиническое испытание фазы II вемурафениба в комбинации с цитарабином и 2-хлордезоксиаденозином у детей с гистоцитозом клеток Лангерганса с мутацией BRAF V600E [Электронный ресурс]. URL: https://ichgcp.net/ru/clinicaltrials-registry/NCT03585686 (дата обращения 26.10.2022).
10. Evseev D., Kalinina I., Raykina E., Osipova D., Abashidze Z., Ignatova A., et al. Vemurafenib provides a rapid and robust clinical response in pediatric Langerhans cell histiocytosis with the BRAF V600E mutation but does not eliminate low-level minimal residual disease per ddPCR using cell-free circulating DNA. Int J Hematol 2021; 114 (6): 725–34.
11. Bio-Rad. Rare Mutation Detection Best Practices Guidelines.
12. Deprez L., Corbisier P., Kortekaas A.-M., Mazoua S., Beaz Hidalgo R., Trapmann S., et al. Validation of a digital PCR method for quantification of DNA copy number concentrations by using a certified reference material. Biomol Detect Quantif 2016; 9: 29–39.
13. Héritier S., Hélias-Rodzewicz Z., Lapillonne H., Terrones N., Garrigou S., Normand C., et al. Circulating cell-free BRAFV600E as a biomarker in children with Langerhans cell histiocytosis. Br J Haematol 2017; 178 (3): 457–67.
Pediatric Hematology/Oncology and Immunopathology. 2023; 22: 12-20
The use of droplet digital polymerase chain reaction for the molecular diagnosis and monitoring of treatment response in patients with Langerhans cell histiocytosis with the BRAF V600E mutation
https://doi.org/10.24287/1726-1708-2023-22-1-12-20Abstract
This article discusses the potential of droplet digital polymerase chain reaction (PCR) for the diagnostic detection and monitoring of the allelic load of the BRAF V600E mutation in circulating cell-free DNA and myeloid progenitor cell population in the bone marrow of patients with Langerhans cell histiocytosis (LCH). Droplet digital PCR may serve as a useful tool for the monitoring of minimal residual disease and improve our understanding of the pathogenesis of Langerhans cells histiocytosis. The study was approved by the Independent Ethics Committee and the Scientific Council of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology.
References
1. Haupt R., Minkov M., Astigarraga I., Schäfer E., Nanduri V., Jubran R., et al. Langerhans cell histiocytosis (LCH): guidelines for diagnosis, clinical work-up, and treatment for patients till the age of 18 years. Pediatr Blood Cancer 2013; 60 (2): 175–84.
2. Harmon C.M., Brown N. Langerhans Cell Histiocytosis A Clinicopathologic Review and Molecular Pathogenetic Update. Arch Pathol Lab Med 2015; 139: 1211–4.
3. Badalian-Very G., Vergilio J.-A., Degar B.A., MacConaill L.E., Brandner B., Calicchio M.L., et al. Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood 2010; 116 (11): 1919–23.
4. Wei R., Wang Z., Li X., Shu Y., Fu B. Frequent BRAFV600E mutation has no effect on tumor invasiveness in patients with Langerhans cell histiocytosis. Biomed Rep 2013; 1(3): 365–8.
5. Bigenwald C., Le Berichel J., Matthias Wilk C., Chakraborty R, Chen S.T., Tabachnikova A., et al. BRAFV600E-induced senescence drives Langerhans cell histiocytosis pathophysiology. Nat Med 2021; 27 (5): 851.
6. Berres M.-L., Phaik Har Lim K., Peters T., Price J., Takizawa H., Salmon H., et al. BRAF-V600E expression in precursor versus differentiated dendritic cells defines clinically distinct LCH risk groups. J Exp Med 2014; 211 (4) 669–83.
7. Xiao Y., van Halteren A.G.S., Lei X., Borst J., Steenwijk E., de Wit T., et al. Bone marrow-derived myeloid progenitors as driver mutation carriers in high- And low-risk Langerhans cell histiocytosis. Blood 2020; 136 (19): 2188–99.
8. LCH-IV, International Collaborative Treatment Protocol for Children and Adolescents With Langerhans Cell Histiocytosis – Full Text View – ClinicalTrials.gov [Electronic resource]. URL: https://clinicaltrials.gov/ct2/show/NCT02205762 (accessed 26.10.2022).
9. Prospektivnoe nerandomizirovannoe klinicheskoe ispytanie fazy II vemurafeniba v kombinatsii s tsitarabinom i 2-khlordezoksiadenozinom u detei s gistotsitozom kletok Langergansa s mutatsiei BRAF V600E [Elektronnyi resurs]. URL: https://ichgcp.net/ru/clinicaltrials-registry/NCT03585686 (data obrashcheniya 26.10.2022).
10. Evseev D., Kalinina I., Raykina E., Osipova D., Abashidze Z., Ignatova A., et al. Vemurafenib provides a rapid and robust clinical response in pediatric Langerhans cell histiocytosis with the BRAF V600E mutation but does not eliminate low-level minimal residual disease per ddPCR using cell-free circulating DNA. Int J Hematol 2021; 114 (6): 725–34.
11. Bio-Rad. Rare Mutation Detection Best Practices Guidelines.
12. Deprez L., Corbisier P., Kortekaas A.-M., Mazoua S., Beaz Hidalgo R., Trapmann S., et al. Validation of a digital PCR method for quantification of DNA copy number concentrations by using a certified reference material. Biomol Detect Quantif 2016; 9: 29–39.
13. Héritier S., Hélias-Rodzewicz Z., Lapillonne H., Terrones N., Garrigou S., Normand C., et al. Circulating cell-free BRAFV600E as a biomarker in children with Langerhans cell histiocytosis. Br J Haematol 2017; 178 (3): 457–67.
