婴儿 B 细胞前体急性淋巴细胞白血病中 NUTM1 基因重排的产前起源。

IF 5.1 2区医学 Q1 HEMATOLOGY

British Journal of Haematology Pub Date : 2024-08-05 DOI:10.1111/bjh.19685

Michela Bardini, Grazia Fazio, Lilia Corral Abascal, Claus Meyer, Oscar Maglia, Simona Sala, Sonia Palamini, Stefano Rebellato, Rolf Marschalek, Carmelo Rizzari, Andrea Biondi, Giovanni Cazzaniga

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引用次数: 0

摘要

NUTM1 基因（NUTM1r）重排是 B 细胞前体急性淋巴细胞白血病（BCP-ALL）婴儿（确诊时年龄小于 1 岁）中最常见的畸变之一。在这项研究中，我们有幸分析了一名 NUTM1r BCP-ALL 婴儿患者的脐带血（UCB）样本。在此，我们首次报告了 NUTM1r 婴儿 ALL 在产前就已出现，因为患者特异性的 CUX1::NUTM1 融合基因以及两个 IG/TR 白血病标记物在患者出生时就已存在并可在其 UCB 中检测到。我们的研究结果清楚地证明了 NUTM1r 婴儿 BCP-ALL 的产前来源。

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Prenatal origin of NUTM1 gene rearrangement in infant B-cell precursor acute lymphoblastic leukaemia

Rearrangement of NUTM1 gene (NUTM1r) is one of the most frequent aberrations occurring in infants (younger than 1 year at diagnosis) with B-cell precursor Acute Lymphoblastic Leukaemia (BCP-ALL). In this study we had the unique opportunity to analyze the umbilical cord blood (UCB) sample from one infant patient with NUTM1r BCP-ALL. Herein we reported for the first time that NUTM1r infant ALL arise prenatally, as both the patient-specific CUX1::NUTM1 fusion gene, as well as two IG/TR leukaemic markers were already present and detectable in the patient's UCB at birth. Our results clearly demonstrate the prenatal origin of NUTM1r infant BCP-ALL.

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来源期刊

British Journal of Haematology 医学-血液学

CiteScore

8.60

自引率

4.60%

发文量

565

审稿时长

1 months

期刊介绍： The British Journal of Haematology publishes original research papers in clinical, laboratory and experimental haematology. The Journal also features annotations, reviews, short reports, images in haematology and Letters to the Editor.