Первичная диагностика и оценка минимальной диссеминированной и минимальной остаточной болезни путем определения перестройки c-MYC-IgH с помощью полимеразной цепной реакции длинных фрагментов при лимфоме/лейкозе Беркитта

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Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2016; 15: 66-73

Первичная диагностика и оценка минимальной диссеминированной и минимальной остаточной болезни путем определения перестройки c-MYC-IgH с помощью полимеразной цепной реакции длинных фрагментов при лимфоме/лейкозе Беркитта

Лавриненко Виктория Александровна, Волочник Елена Викторовна, Фёдорова Алина Степановна, Алейникова Ольга Витальевна

https://doi.org/10.24287/1726-1708-2016-15-4-66-73

Аннотация

Целью исследования явились определение перестройки c-MYC-IgH с помощью полимеразной цепной реакции длинных фрагментов (ПЦР-ДФ) для диагностики лимфомы/лейкоза Беркитта, сравнение результатов ПЦР-Дф с цитогенетическими методами, а также оценка возможности использования ПЦР-ДФ для анализа минимальной диссеминированной (МДБ) и минимальной остаточной болезни (МОБ). Обследованы 55 пациентов в возрасте от 2 до 23 лет с лимфомой/лейкозом Беркитта, перестройка c-MYC-IgH с помощью ПЦР-ДФ была выявлена у 35 (63,6%) пациентов. Проведение ПЦР-ДФ возможно у всех пациентов в отличие от G-окрашивания, однако c-MYC-IgH с помощью ПЦР-ДФ была выявлена только у 27 (71,1%) из 38 пациентов с цитогенетически подтвержденной транслокацией t(8;14) (q24;q32). ПЦР-ДФ позволила выявить перестройку c-MYC-IgH у 2 (40%) из 5 пациентов, у которых ее не удалось выявить с помощью флуоресцентной гибридизации in situ (fluorescence in situ hybridization - FISH). Комбинация методов позволила выявить перестройки гена c-MYC у 52 (94,5%) пациентов. МДБ с помощью ПЦР-ДФ была выявлена у 11,1% пациентов с III стадией лимфомы Беркитта и у всех пациентов с IV стадией лимфомы Беркитта, в том числе и без морфологического поражения костного мозга. ПЦР-ДФ может быть использована для первичной дифференциальной диагностики лимфомы/лейкоза Беркитта, а также для определения МДБ. При этом для оценки МОБ данный метод малоинформативен из-за невысокой чувствительности и получения только качественных результатов.

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Pediatric Hematology/Oncology and Immunopathology. 2016; 15: 66-73

Primary diagnostics and assessment of minimal disseminated and minimal residual disease in Burkitt lymphoma/leukemia by detection of c-MYC-IgH rearrangements with long-distance polymerase chain reaction

Lavrinenko Victoria A., Volochnik Elena V., Fedorova Alina S., Aleinikova Olga V.

https://doi.org/10.24287/1726-1708-2016-15-4-66-73

Abstract

The aim of this study was to identify с-MYC-IgH with long-distance polymerase chain reaction (LD-PCR) for Burkitt's lymphoma/ leukemia diagnosis, to compare LD-PCR with cytogenetic methods and to evaluate the possibility of LD-PCR application for minimal disseminated (MdD) and minimal residual disease (MRD) detection. с-MYC-IgH rearrangements were detected in 63,6% of the 55 patients at the age 2-23 years. In comparison to G-banding, LD-PCR was possible to perform for all patients, however LD-PCR detected с-MYC-IgH only in 71,1% of the patients with translocation t (8;14)(q24;q32). с-MYC-IgH rearrangements were found by LD-PCR in 2 of 5 (40%) of patients who were negative by FISH and G-banding. Combination of these methods allowed to reveal of c-MYC rearrangements in 94,5% of the patients. MDD was identified in 11,1% patient with stage III and in all patients with stage IV both negative and positive by standard morphological analysis. LD-PCR could be used for primary diagnosis of Burkitt's lymphoma/leukemia and MDD detection. At the same time, LD-PCR is less informative for MRD evaluation because of low sensitivity and possibility to obtain only qualitative results.

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29. zur Stadt U, Hoser G, Reiter A, Welte K, Sykora KW. Application of long PCR to detect t(8;14)(q24;q32) translocations in childhood Burkitt's lymphoma and B-ALL. Ann Oncol. 1997;8(Suppl. 1):31-5.

30. Joos S, Haluska FG, Falk MH, Henglein B, Hameister H, Croce CM, et al. Mapping chromosomal breakpoints of Burkitt's t(8;14) translocations far upstream of c-myc. Cancer Res. 1992;52(23):6547-52.

Аннотация

Primary diagnostics and assessment of minimal disseminated and minimal residual disease in Burkitt lymphoma/leukemia by detection of c-MYC-IgH rearrangements with long-distance polymerase chain reaction

Abstract

События

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