Unraveling the Prognostic Role of t(1:19) in Pediatric Pre-B Acute Lymphoblastic Leukemia: Insights from a Saudi Nationwide Cohort.

IF 1.4 4区 医学 Q4 GENETICS & HEREDITY Cancer Genetics Pub Date : 2025-01-01 Epub Date: 2024-11-08 DOI:10.1016/j.cancergen.2024.10.003
Ibrahim A Sanduqji, Walid Ballourah, Suha Tashkandi, Mohammed Essa, Wasil Jastaniah, Ibrahim Alghimlas, Mohammed A AlBalwi, Mohammed Sahabi, Abdullateef Mohammed Ahmed, Naglla Elimam, Dania A Monagel, Ali Algiraigri
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Abstract

Recurrent translocation t(1;19) (q23;p13) describes a unique cytogenetic group of childhood B-cell acute lymphoblastic leukemia (ALL). Historically, t(1;19)(q23;p13.3) has been associated with poor outcomes. However, recent data suggests that currently intensified treatments have overcome this dismal prognosis. We conducted this study to understand this type of translocation in our population. From January 1999 until May 2020, 44 children with t(1;19) were identified by cytogenetics analysis during charts review. Cytogenetics (CG) testing results (Karyotype and/or FISH) were retrieved from the medical files on 37/44 patients. Of the 37 patients with Cytogenetics results, a total of 12 patients were found to have t(1;19)(q23;p13.3) as the only detectable genetic change, 13 patients were presented with t(1;19)(q23;p13.3) plus further chromosomal rearrangement (Table 1), 12 patients were presented with a variation involving t(1;19)(q23;p13.3) with or without additional chromosomes rearrangement. Patients were treated on different protocols, yet most were derived from the North American guidelines. Among the included subjects, relapse or refractory disease was identified in 15 cases (34 %), and 12 died due to progressive refractory leukemia. At the five-year mark, the estimated overall survival rate stood at 72​​ %. No statistical difference existed between patients treated on the high-risk (HR) protocol and those treated on the standard-risk (SR) protocol. It appeared that t(1,19) standard risk ALL had more relapses on the standard risk protocol. Furthermore, Relapses were mostly earlier and poorly salvageable. As such, treatment intensification for standard risk ALL with t(1,19) is warranted.

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揭示t(1:19)在儿童b前急性淋巴细胞白血病中的预后作用:来自沙特全国队列的见解
复发性易位t(1;19) (q23;p13)描述了儿童b细胞急性淋巴细胞白血病(ALL)的一个独特的细胞遗传学群体。从历史上看,t(1;19)(q23;p13.3)与不良预后相关。然而,最近的数据表明,目前强化治疗已经克服了这种惨淡的预后。我们进行这项研究是为了了解我们人群中的这种易位。从1999年1月至2020年5月,通过细胞遗传学分析在图表回顾中确定了44例t(1;19)患儿。从37/44例患者的医学档案中检索细胞遗传学(CG)检测结果(核型和/或FISH)。在37例有细胞遗传学结果的患者中,共有12例患者发现t(1;19)(q23;p13.3)是唯一可检测到的遗传改变,13例患者出现t(1;19)(q23;p13.3)加上进一步的染色体重排(表1),12例患者出现涉及t(1;19)(q23;p13.3)的变异,伴有或不伴有额外的染色体重排。患者接受了不同的治疗方案,但大多数都来自北美的指导方针。在纳入的受试者中,复发或难治性疾病15例(34%),12例死于进行性难治性白血病。在5年的时间里,估计总体存活率为72%。高危(HR)方案治疗的患者与标准风险(SR)方案治疗的患者之间无统计学差异。在标准风险方案中,t(1,19)标准风险ALL的复发率更高。此外,复发大多较早,而且难以挽回。因此,对于t(1,19)的标准风险ALL,强化治疗是必要的。
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来源期刊
Cancer Genetics
Cancer Genetics ONCOLOGY-GENETICS & HEREDITY
CiteScore
3.20
自引率
5.30%
发文量
167
审稿时长
27 days
期刊介绍: The aim of Cancer Genetics is to publish high quality scientific papers on the cellular, genetic and molecular aspects of cancer, including cancer predisposition and clinical diagnostic applications. Specific areas of interest include descriptions of new chromosomal, molecular or epigenetic alterations in benign and malignant diseases; novel laboratory approaches for identification and characterization of chromosomal rearrangements or genomic alterations in cancer cells; correlation of genetic changes with pathology and clinical presentation; and the molecular genetics of cancer predisposition. To reach a basic science and clinical multidisciplinary audience, we welcome original full-length articles, reviews, meeting summaries, brief reports, and letters to the editor.
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