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慢性髓性白血病不同临床阶段的 BCR::ABL1 转录本分布:对血液学参数和患者生存的影响。

Distribution of BCR::ABL1 Transcripts in the Different Clinical Phases of Chronic Myeloid Leukemia: Effect on Hematological Parameters and Patient Survival.

机构信息

Departamento de Investigación, Universidad Estatal del Valle de Ecatepec, Ecatepec 55210, Estado de México, Mexico.

Departamento de Ciencias Aplicadas al Trabajo, División Ciencias de la Salud, Universidad de Guanajuato, Campus León, León 37670, Guanajuato, Mexico.

出版信息

Genes (Basel). 2024 Apr 28;15(5):567. doi: 10.3390/genes15050567.

Abstract

Chronic myeloid leukemia (CML) is a hematopoietic stem cell disorder characterized by the presence of the Philadelphia chromosome, a product of the reciprocal translocation t(9;22)(q34;q11), in the BCR and ABL genes. These rearrangements in both genes lead to the formation of various fusion mRNA products, with preferential expression of , , and other mRNA variants, combined with additional chromosomal abnormalities. Notably, the distribution and frequency of different mRNA variants vary in different populations. However, studies concerning this in Mexico are limited, and the results have been inconclusive. This study therefore aimed to determine the distribution of mRNA variants in different clinical phases of CML and their effect on hematological parameters and patient survival. This study included 33 patients, whose demographic, clinical, and molecular data on mRNA variants and hematological parameters were collected to identify potential associations. A total of 84.8% (n = 28) of patients had translocation and increased platelet and basophil counts. The most frequent mRNA variant was (64.3%), followed by (28.6%) and (3.6%). Concerning the clinical phases of CML, 75.8% (n = 25), 21.2% (n = 7), and 3% (n = 1) of patients were in the chronic, blast, and accelerated phases, respectively. Moreover, the mRNA variant was more commonly identified in patients in the chronic phase. No correlation was observed between mRNA variant expression and patient survival. However, was indicative of patients with longer survival as well as those treated with imatinib or nilotinib. Additionally, platelet count could be a marker of translocation.

摘要

慢性髓细胞白血病(CML)是一种造血干细胞疾病,其特征是存在费城染色体,这是 BCR 和 ABL 基因之间的相互易位 t(9;22)(q34;q11)的产物。这两个基因中的这些重排导致各种融合 mRNA 产物的形成,优先表达 、 和其他 mRNA 变体,以及其他染色体异常。值得注意的是,不同人群中不同 mRNA 变体的分布和频率有所不同。然而,关于墨西哥的此类研究有限,结果尚无定论。因此,本研究旨在确定 CML 不同临床阶段中 mRNA 变体的分布及其对血液学参数和患者生存的影响。本研究纳入了 33 名患者,收集了他们关于 mRNA 变体和血液学参数的人口统计学、临床和分子数据,以确定潜在的关联。共有 84.8%(n=28)的患者存在 易位,血小板和嗜碱性粒细胞计数增加。最常见的 mRNA 变体是 (64.3%),其次是 (28.6%)和 (3.6%)。关于 CML 的临床阶段,分别有 75.8%(n=25)、21.2%(n=7)和 3%(n=1)的患者处于慢性、急变和加速阶段。此外,慢性期患者中更常发现 mRNA 变体。mRNA 变体表达与患者生存之间未观察到相关性。然而, 表明患者生存时间更长,并且接受伊马替尼或尼罗替尼治疗。此外,血小板计数可能是 易位的标志物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e1e3/11121596/baef9ac2d85c/genes-15-00567-g001.jpg

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