Division of Pediatric Hemato-oncology, Department of Pediatrics, Sri Ramachandra Institute of Higher Education and Research, Chennai, India.
Department of Human Genetics, Sri Ramachandra Institute of Higher Education and Research, Chennai, India.
Med Princ Pract. 2021;30(6):563-570. doi: 10.1159/000518280. Epub 2021 Jul 7.
The purpose of this study was to evaluate the cytogenetic and fluorescent in situ hybridization (FISH) profile in children with acute lymphoblastic leukemia (ALL), referred to a university hospital in a 5-year 6-month period.
Cytogenetic analysis of the bone marrow aspirate specimens of 91 patients was performed by standard Giemsa (G)-banding and interphase FISH (iFISH).
The frequency of chromosomal abnormalities detected by G-banding was 29.5%, and the frequency of nonrandom abnormalities with independent prognostic significance identified by iFISH was 46.4%. The abnormality with the highest frequency was gain of RUNX1 (n = 18, 21.4%), followed by ETV6/RUNX1 fusion (n = 7, 8.3%), and gain of KMT2A (n = 6, 7.1%). Additionally, rarely reported gains of ETV6, PBX1, and ABL1 were observed at a frequency of 6% (n = 5), and the deletion of ETV6 and TCF3 was seen at a frequency of 3.6% (n = 3) and 2.3% (n = 2), respectively. A 10-year old with intrachromosomal amplification of chromosome 21 was also observed.
This study strengthens and widens the current knowledge of the cytogenetic landscape of pediatric ALL.
本研究旨在评估在一所大学医院就诊的 5 年 6 个月期间的儿童急性淋巴细胞白血病（ALL）患者的细胞遗传学和荧光原位杂交（FISH）图谱。
对 91 例患者的骨髓抽吸标本进行了常规的吉姆萨（G）带核型分析和间期 FISH（iFISH）。
G 带核型检测到染色体异常的频率为 29.5%，iFISH 鉴定的非随机具有独立预后意义的异常频率为 46.4%。频率最高的异常是 RUNX1 获得（n = 18，21.4%），其次是 ETV6/RUNX1 融合（n = 7，8.3%）和 KMT2A 获得（n = 6，7.1%）。此外，还观察到 ETV6、PBX1 和 ABL1 获得的频率为 6%（n = 5），ETV6 和 TCF3 缺失的频率分别为 3.6%（n = 3）和 2.3%（n = 2）。还观察到一个 10 岁的儿童存在 21 号染色体的内染色体扩增。
本研究加强并拓宽了儿科 ALL 细胞遗传学图谱的现有知识。
