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慢性粒细胞白血病中一种罕见的t(9;22;16)(q34;q11;q24)易位,甲磺酸伊马替尼对其有效:一例报告

A Rare t(9;22;16)(q34;q11;q24) Translocation in Chronic Myeloid Leukemia for Which Imatinib Mesylate Was Effective: A Case Report.

作者信息

Manabe Masahiro, Yoshii Yumi, Mukai Satoru, Sakamoto Erina, Kanashima Hiroshi, Inoue Takeshi, Teshima Hirofumi

机构信息

Department of Hematology, Osaka City General Hospital, 2-13-22 Miyakojimahondori, Miyakojima-Ku, Osaka 534-0021, Japan ; Department of Hematology, Osaka City University Medical School, 1-4-3 Asahimachi, Abeno-Ku, Osaka 545-8585, Japan.

出版信息

Leuk Res Treatment. 2011;2011:592519. doi: 10.4061/2011/592519. Epub 2011 Jul 5.

Abstract

The t(9;22)(q34;q11) translocation is found in about 90% of chronic myeloid leukemia (CML) patients. About 5-10% of CML patients have complex variant translocations involving a third chromosome in addition to chromosomes 9 and 22. Herein, we describe a CML-chronic phase male with a complex translocation involving chromosome 16, t(9;22;16)(q34;q11;q24). First, he was treated with interferon-alpha and intermittent hydroxyurea, but only a partial cytogenetic response was attained. Subsequently, the patient was treated with imatinib mesylate because of an additional chromosome abnormality, trisomy 8. A major molecular response was obtained after one year's imatinib therapy, and the follow-up chromosomal analysis performed 4 years and 3 months after the initiation of imatinib therapy displayed a normal karyotype of 46,XY.

摘要

约90%的慢性髓系白血病(CML)患者存在t(9;22)(q34;q11)易位。约5%-10%的CML患者除了9号和22号染色体外,还存在涉及第三条染色体的复杂变异易位。在此,我们描述了一名处于慢性期的男性CML患者,其存在涉及16号染色体的复杂易位,即t(9;22;16)(q34;q11;q24)。起初,他接受了α干扰素和间歇性羟基脲治疗,但仅获得了部分细胞遗传学反应。随后,由于存在额外的染色体异常——8号染色体三体,该患者接受了甲磺酸伊马替尼治疗。伊马替尼治疗一年后获得了主要分子反应,在伊马替尼治疗开始4年零3个月后进行的后续染色体分析显示核型正常,为46,XY。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/042a/3505916/80fa91a911a7/LRT2011-592519.001.jpg

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