Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.
Division of Laboratory Medicine, Department of Clinical Genetics and Pathology, Lund, Sweden.
Genes Chromosomes Cancer. 2020 Sep;59(9):540-543. doi: 10.1002/gcc.22852. Epub 2020 Apr 30.
In recent years, a subgroup of B-cell precursor acute lymphoblastic leukemia (BCP ALL) without an established abnormality ("B-other") has been shown to be characterized by rearrangements of ABL1, ABL2, CSF1R, or PDGFRB (a.k.a. ABL-class genes). Using FISH with probes for these genes, we screened 55 pediatric and 50 adult B-other cases. Three (6%) of the adult but none of the childhood B-other cases were positive for ABL-class aberrations. RT-PCR and sequencing confirmed a rare SFPQ-ABL1 fusion in one adult B-other case with t(1;9)(p34;q34). Only six SFPQ-ABL1-positive BCP ALLs have been reported, present case included. A review of these shows that all harbored fusions between exon 9 of SFPQ and exon 4 of ABL1, that the fusion is typically found in adolescents/younger adults without hyperleukocytosis, and that IKZF1 deletions are recurrent. The few patients not treated with tyrosine kinase inhibitors (TKIs) and/or allogeneic stem cell transplantation relapsed, strengthening the notion that TKI should be added to the therapy of SFPQ-ABL1-positive BCP ALL.
近年来，研究表明，在无明确异常的 B 细胞前体急性淋巴细胞白血病（BCP ALL）亚组中（“B 其他”）存在 ABL1、ABL2、CSF1R 或 PDGFRB（又名 ABL 类基因）的重排。我们使用针对这些基因的 FISH 探针筛选了 55 例儿科和 50 例成人 B 其他病例。在成年病例中有 3 例（6%）存在 ABL 类异常，而在儿童 B 其他病例中均无此类异常。RT-PCR 和测序证实了一例成人 B 其他病例中存在 SFPQ-ABL1 融合，其核型为 t(1;9)(p34;q34)。目前共报道了 6 例 SFPQ-ABL1 阳性的 BCP ALL，包括本病例。对这些病例的回顾显示，所有病例均存在 SFPQ 外显子 9 与 ABL1 外显子 4 之间的融合，融合通常发生在无白细胞增多的青少年/年轻成人中，且 IKZF1 缺失是常见的。少数未接受酪氨酸激酶抑制剂（TKI）和/或异基因造血干细胞移植治疗的患者复发，这进一步证实了 SFPQ-ABL1 阳性的 BCP ALL 患者应接受 TKI 治疗。
