小儿B淋巴细胞白血病中14号染色体同时倒位和8号染色体四体的细胞遗传学发现——病例报告
Cytogenetic finding of simultaneous inversion of chromosome 14 and tetrasomy 8 in a Pediatric B-Lymphoblastic Leukemia-a case report.
作者信息
Sachwani Kiran, Pasha Rehab, Kaleem Bushra, Mansoor Neelum
机构信息
Department of Cytogenetics, Indus Hospital and Health Network, Karachi, Pakistan.
Indus Hospital Research Center, Indus Hospital and Health Network, Karachi, Pakistan.
出版信息
Mol Cytogenet. 2025 Jul 18;18(1):15. doi: 10.1186/s13039-025-00715-6.
BACKGROUND
Clonal cytogenetic abnormalities in B-lymphoblastic leukemia (B-ALL) include structural and numerical chromosomal alterations, where numerical are the most common aberrations. Inversion 14 [inv(14)] is an infrequent finding in B-ALL, but its prognostic and therapeutic significance has not been previously explored.
CASE PRESENTATION
A 13-year-old boy diagnosed as B-ALL on bone marrow aspirate by flow cytometry is presented. Fluorescence in situ hybridization (FISH) for B-ALL panel was reported as normal. Nevertheless, his cytogenetic studies performed on bone marrow showed tetrasomy 8 and a pericentric inversion in chromosome 14.
CONCLUSION
Inversion 14 is a rare finding in B-ALL, and its clinical relevance is worthy of further evaluation. The growing number of such cases reported emphasizes that there exists a possibility of a separate cytogenetic subset with diagnostic, prognostic or even therapeutic relevance.
背景
B淋巴细胞白血病（B-ALL）中的克隆性细胞遗传学异常包括结构和数量染色体改变，其中数量改变是最常见的畸变。14号染色体倒位[inv(14)]在B-ALL中很少见，但其预后和治疗意义此前尚未被探讨。
病例报告
本文报告了一名13岁男孩，通过流式细胞术在骨髓穿刺物中诊断为B-ALL。B-ALL检测板的荧光原位杂交（FISH）报告为正常。然而，对其骨髓进行的细胞遗传学研究显示8号染色体四体和14号染色体臂间倒位。
结论
14号染色体倒位在B-ALL中是罕见发现，其临床相关性值得进一步评估。报告的此类病例数量不断增加，强调存在一个具有诊断、预后甚至治疗相关性的独立细胞遗传学亚群的可能性。
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