Abstract
The purpose of the study is to assess the frequency of occurrence of the most frequent cytogenetic rearrangements in neuroblastoma (NB) and their correlation with clinical and biological characteristics and outcome of therapy in the Republic of Belarus. Materials and methods. 280 patients with primary diagnosed NB from 10.10.2007 to 01.04.2018 were studied. The material for the study was the primary tumor or tumor metastases in the bone marrow (damage more than 60 %) according to the criteria of the protocol. The study was conducted by the method of fluorescent hybridization in situ. Results. The frequency of occurrence of such cytogenetic aberrations as MYCN amplification (20.1 %), 11q deletion/imbalance (19.7 %) and 1p aberration (28%) in the studied population corresponds to literature data. The frequency of occurrence of gain17q (34.5 %) was lower than the literature data. The negative effect on event-free survival (EFS) of patients with NB was statistically confirmed and the presence of such genetic aberrations in the tumor, such as MYCN amplification, 11q deletion/imbalance, 1p aberration. Statistically reliably confirmed higher rates of event-free survival for patients with near-triloid set of chromosomes in the tumor, as compared with near-/tetroploid (97 ± 3 % versus 63 ± 5 %). For patients who lacked structural aberrations in the tumor, EFS was 75 ± 4 % versus 51 ± 9 % in the group with aberrations (p < 0.0001).
Highlights
Для цитирования: Пролесковская И.В., Волочник Е.В., Букат В.П., Быданов О.И., Конопля Н.Е
Исследование проводилось методом флуоресцентной гибридизации in situ
The purpose of the study is to assess the frequency of occurrence of the most frequent cytogenetic rearrangements in neuroblastoma (NB) and their correlation with clinical and biological characteristics and outcome of therapy in the Republic of Belarus
Summary
Прогностически значимые аберрации при НБ Prognostic significant aberrations in NB. Выживаемость у протокольных и наблюдаемых пациентов, n* Survival in protocol and observed. ОВ пациентов с аберрациями 1р (n = 13) составила 69 ± 20 % против 81 ± 5 % у больных без них (n = 137); р = 0,1920. Так как MYCN-амплификация – более мощный прогностически неблагоприятный фактор, то для оценки влияния именно аберраций 11q на прогноз заболевания исследовалась группа пациентов только с изолированной del/imb11q (n = 14) и без нее (n = 54) ОВ пациентов с del/imb11q (n = 13) составила 71 ± 17 % против 97 ± 3 % у больных без нее (n = 50); р = 0,0749. Так как MYCN-амплификация – более мощный прогностически неблагоприятный фактор, то для оценки влияния именно gain17q на прогноз заболевания исследовалась группа пациентов только с gain17q (n = 23) и без нее (n = 45) У нас имеется выраженная тенденция к негативному прогностическому влиянию на выживаемость больных, имеющих данную перестройку, отсутствие статистической достоверности, вероятно, связано с небольшим числом пациентов
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