一名患有非典型慢性粒细胞白血病且伴有t(5;12)(q33;p13)的2岁患儿，使用甲磺酸伊马替尼治疗成功。

A 2-year-old with atypical CML with a t(5;12)(q33;p13) treated successfully with imatinib mesylate.

作者信息

Wittman Brenda, Horan John, Baxter Joanna, Goldberg John, Felgar Raymond, Baylor Erin, Cromwell Bean, Cross Nicholas, Bennett John M

机构信息

Department of Pediatric Hematology/Oncology, Golisano Children's Hospital at Strong, University of Rochester Medial Center, Box 777, 601 Elmwood Avenue, Rochester, NY 14642, USA.

出版信息

Leuk Res. 2004 May;28 Suppl 1:S65-9. doi: 10.1016/j.leukres.2003.10.011.

DOI:10.1016/j.leukres.2003.10.011

PMID:15036944

Abstract

Atypical chronic myelogenous leukemia (aCML) is a myelodysplastic/myeloproliferative disorder that usually occurs in older adults. Here we report a pediatric patient with aCML and a t(5;12)(q33;p13) with a corresponding fusion gene ETV6-PDGFRB. Because the PDGFRB tyrosine kinase is one of the known targets of tyrosine kinase inhibitors, this patient achieved cytogenetic and molecular remission with treatment with imatinib mesylate (formerly STI571; now Gleevec in the United States and Glivec in Europe). This case illustrates one of many myelodysplastic/myeloproliferative disorders that can be treated with this particular tyrosine kinase inhibitor.

摘要

非典型慢性粒细胞白血病（aCML）是一种通常发生于老年人的骨髓增生异常/骨髓增殖性疾病。我们在此报告一名患有aCML且伴有t(5;12)(q33;p13)以及相应融合基因ETV6-PDGFRB的儿科患者。由于PDGFRB酪氨酸激酶是酪氨酸激酶抑制剂已知的靶点之一，该患者通过甲磺酸伊马替尼（原STI571；在美国现称格列卫，在欧洲现称格列维克）治疗实现了细胞遗传学和分子学缓解。该病例说明了众多骨髓增生异常/骨髓增殖性疾病中可使用这种特定酪氨酸激酶抑制剂治疗的一种情况。