小儿b淋巴细胞白血病14号染色体和8号四体同时倒置的细胞遗传学发现- 1例报告。

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY

Molecular Cytogenetics Pub Date : 2025-07-18 DOI:10.1186/s13039-025-00715-6

Kiran Sachwani, Rehab Pasha, Bushra Kaleem, Neelum Mansoor

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引用次数: 0

摘要

背景：b淋巴母细胞白血病（B-ALL）的克隆性细胞遗传学异常包括结构和数字染色体改变，其中数字染色体是最常见的畸变。倒位14 [inv(14)]在B-ALL中并不常见，但其预后和治疗意义此前尚未探讨。病例介绍：一个13岁的男孩在骨髓穿刺中被流式细胞术诊断为B-ALL。B-ALL细胞荧光原位杂交（FISH）结果正常。然而，他的骨髓细胞遗传学研究显示8号四体和14号染色体的中心周围反转。结论：14位倒位在B-ALL中少见，其临床意义值得进一步探讨。越来越多的此类病例的报道强调，存在一个单独的细胞遗传学亚群的可能性与诊断，预后，甚至治疗相关。

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Cytogenetic finding of simultaneous inversion of chromosome 14 and tetrasomy 8 in a Pediatric B-Lymphoblastic Leukemia-a case report.

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.

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来源期刊

Molecular Cytogenetics GENETICS & HEREDITY-

CiteScore

2.60

自引率

7.70%

发文量

审稿时长

>12 weeks

期刊介绍： Molecular Cytogenetics encompasses all aspects of chromosome biology and the application of molecular cytogenetic techniques in all areas of biology and medicine, including structural and functional organization of the chromosome and nucleus, genome variation, expression and evolution, chromosome abnormalities and genomic variations in medical genetics and tumor genetics. Molecular Cytogenetics primarily defines a large set of the techniques that operate either with the entire genome or with specific targeted DNA sequences. Topical areas include, but are not limited to: -Structural and functional organization of chromosome and nucleus- Genome variation, expression and evolution- Animal and plant molecular cytogenetics and genomics- Chromosome abnormalities and genomic variations in clinical genetics- Applications in preimplantation, pre- and post-natal diagnosis- Applications in the central nervous system, cancer and haematology research- Previously unreported applications of molecular cytogenetic techniques- Development of new techniques or significant enhancements to established techniques. This journal is a source for numerous scientists all over the world, who wish to improve or introduce molecular cytogenetic techniques into their practice.