骨髓和外周血中急性淋巴细胞白血病的克隆分布。
Acute lymphoblastic leukemia clonal distribution between bone marrow and peripheral blood.
机构信息
Department of Pediatrics, Division of Pediatric Hematology/Oncology, University of Rochester, Rochester, New York.
Department of Pathology and Laboratory Medicine, Rochester, New York, University of Rochester.
出版信息
Pediatr Blood Cancer. 2020 Jun;67(6):e28280. doi: 10.1002/pbc.28280. Epub 2020 Apr 11.
Abstract
Acute lymphoblastic leukemia (ALL) is often composed of numerous subclones. Here we test whether the clonal composition of the blood is representative of the bone marrow at leukemia onset. Using ultra-deep IGH sequencing, we detected 28 clones across 16 patients; 5/28 were only in the marrow. In four patients, the most abundant clones differed between sites, including three in which the dominant medullary clones were minimally detectable in the blood. These findings demonstrate that the peripheral blood often underrepresents the genetic heterogeneity in a B-ALL and highlight the potential impact of tissue site selection on the detection of minor subclones.
摘要
急性淋巴细胞白血病 (ALL) 通常由多个亚克隆组成。在这里，我们检测血液中的克隆组成是否在白血病发病时代表骨髓。通过超深度 IGH 测序，我们在 16 名患者中检测到 28 个克隆；5/28 仅在骨髓中。在 4 名患者中，不同部位的最丰富克隆存在差异，其中 3 名患者骨髓中主要的髓系克隆在血液中几乎无法检测到。这些发现表明，外周血通常不能完全代表 B-ALL 的遗传异质性，并强调了组织部位选择对检测微小亚克隆的潜在影响。
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