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一名青少年急性髓系白血病患者的融合现象:病例报告及文献综述

Fusion in an Adolescent with Acute Myeloid Leukemia: A Case Report and Review of the Literature.

作者信息

Shekar Meghan, Llaurador Caraballo Gabriela, Punia Jyotinder N, Curry Choladda V, Fisher Kevin E, Redell Michele S

机构信息

Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.

Texas Children's Hospital, Houston, TX 77030, USA.

出版信息

Biomedicines. 2023 Jun 27;11(7):1842. doi: 10.3390/biomedicines11071842.

Abstract

Activating mutations and fusions of the oncogene have been identified as drivers in a number of malignancies. Crizotinib and subsequent ALK tyrosine kinase inhibitors have improved treatment outcomes for these patients. In this paper, we discuss the case of an adolescent patient with acute myeloid leukemia, who was identified to have an activating fusion, which is a rare finding and has never been reported in cases of AML without monosomy 7. Crizotinib was added to this patient's frontline therapy and was well tolerated. In cases of more common gene alterations, existing data supports the use of targeted agents as post-HSCT maintenance therapy; however, crizotinib was not able to be used post-HSCT for this patient due to the inability to obtain insurance coverage.

摘要

致癌基因的激活突变和融合已被确定为多种恶性肿瘤的驱动因素。克唑替尼及后续的ALK酪氨酸激酶抑制剂改善了这些患者的治疗效果。在本文中,我们讨论了一名患有急性髓系白血病的青少年患者的病例,该患者被确定存在一种激活融合,这是一个罕见的发现,且在无7号染色体单体的急性髓系白血病病例中从未有过报道。克唑替尼被添加到该患者的一线治疗中,且耐受性良好。在更常见的基因改变病例中,现有数据支持使用靶向药物作为异基因造血干细胞移植后的维持治疗;然而,由于无法获得保险覆盖,该患者在异基因造血干细胞移植后无法使用克唑替尼。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f01/10377196/7543ab6a2212/biomedicines-11-01842-g001.jpg

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本文引用的文献

1
Functional consequence and therapeutic targeting of cryptic ALK fusions in monosomy 7 acute myeloid leukemia.
Pediatr Blood Cancer. 2023 Apr;70(4):e30180. doi: 10.1002/pbc.30180. Epub 2023 Jan 31.

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