Tettamanti Center, Fondazione IRCCS San Gerardo Dei Tintori, Monza, Italy.
School of Medicine and Surgery, University of Milano-Bicocca, Milano, Italy.
Br J Haematol. 2024 Nov;205(5):1883-1888. doi: 10.1111/bjh.19685. Epub 2024 Aug 5.
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.
NUTM1 基因重排（NUTM1r）是诊断时年龄小于 1 岁的婴儿 B 细胞前体急性淋巴细胞白血病（BCP-ALL）中最常见的异常之一。在这项研究中，我们有幸分析了一位 NUTM1r BCP-ALL 婴儿的脐血（UCB）样本。在此，我们首次报道了 NUTM1r 婴儿 ALL 是产前发生的，因为在患者的 UCB 中，出生时就已经存在并可检测到患者特异性的 CUX1::NUTM1 融合基因以及两个 IG/TR 白血病标记物。我们的研究结果清楚地表明了 NUTM1r 婴儿 BCP-ALL 的产前起源。
