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采用造血干细胞移植和伊马替尼治疗的伴有EBF1-PDGFRB融合基因的B细胞前体急性淋巴细胞白血病:病例报告及文献复习

B-Cell Precursor-Acute Lymphoblastic Leukemia With EBF1-PDGFRB Fusion Treated With Hematopoietic Stem Cell Transplantation and Imatinib: A Case Report and Literature Review.

作者信息

Sakurai Yukari, Sarashina Takeo, Toriumi Naohisa, Hatakeyama Naoki, Kanayama Takuyo, Imamura Toshihiko, Osumi Tomoo, Ohki Kentaro, Kiyokawa Nobutaka, Azuma Hiroshi

机构信息

Department of Pediatrics, Asahikawa Medical University, Asahikawa, Hokkaido Prefecture.

Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto.

出版信息

J Pediatr Hematol Oncol. 2021 Jan;43(1):e105-e108. doi: 10.1097/MPH.0000000000001743.

DOI:10.1097/MPH.0000000000001743
PMID:32068648
Abstract

A 9-year-old girl was diagnosed with B-cell precursor-acute lymphoblastic leukemia (BCP-ALL). Although she entered remission after induction therapy, she relapsed 15 months after maintenance therapy cessation. Since further investigation revealed EBF1-PDGFRB fusion, her condition was treated as BCR-ABL1-like acute lymphoblastic leukemia. She was started on a tyrosine kinase inhibitor, imatinib, and chemotherapy and underwent umbilical cord blood transplantation following reduced intensity conditioning. She has remained in complete remission for 36 months after cord blood transplantation. This case demonstrates the successful use of a tyrosine kinase inhibitor to treat BCP-ALL with a fusion transcript and highlights the need for a standardized treatment protocol.

摘要

一名9岁女孩被诊断为B细胞前体急性淋巴细胞白血病(BCP-ALL)。尽管她在诱导治疗后进入缓解期,但在维持治疗停止15个月后复发。由于进一步检查发现EBF1-PDGFRB融合,她的病情被当作BCR-ABL1样急性淋巴细胞白血病进行治疗。她开始接受酪氨酸激酶抑制剂伊马替尼和化疗,并在减低剂量预处理后接受了脐带血移植。脐带血移植后她已持续完全缓解36个月。该病例证明了酪氨酸激酶抑制剂成功用于治疗具有融合转录本的BCP-ALL,并强调了标准化治疗方案的必要性。

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引用本文的文献

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J Cell Mol Med. 2024 Feb;28(3):e18114. doi: 10.1111/jcmm.18114.
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Philadelphia-Like Genetic Rearrangements in Adults With B-Cell ALL: Refractoriness to Chemotherapy and Response to Tyrosine Kinase Inhibitor in Class Rearrangements.费城样遗传学重排的成人 B 细胞 ALL:对化疗的耐药性和对 Class 重排的酪氨酸激酶抑制剂的反应。
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Interstitial Deletions Generating Fusion Genes.
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