Relapsed AML patient with inv(16) harboring a low FLT3-ITD allelic burden and KIT mutations
Relapsed AML patient with inv(16) harboring a low FLT3-ITD allelic burden and KIT mutations
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患有 inv(16) 且具有低 FLT3-ITD 等位基因负荷和 KIT 突变的复发性 AML 患者
DOI：
10.1111/ped.13010
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发表时间：
2016
期刊：
影响因子：
--
通讯作者：
Nunoi H.
中科院分区：
文献类型：
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作者：
Yamada A.;Moritake H.;Kinoshita M.;Sawa D.;Kamimura S.;Iwamoto S.;Yamashita Y.;Inagaki J.;Takahashi T.;Shimada A.;Obara M.;Nunoi H.
16号染色体倒位[inv(16)]在急性髓性白血病（AML）中预后良好，但其他遗传畸变会影响预后。我们在此描述了一名15岁的日本男孩的病例，他携带低等位基因负担的内部串联重复ofFLT3（FLT3‐ITD）和kit突变。常规化疗根除了一个低等位基因负担flt3 - ITD突变的克隆，尽管在17个月后出现了另一个具有ITD突变的克隆。需要进一步的研究来确定伴有inv（16）的急性髓系白血病是否预后不良，以便使用其他药物进行适当的治疗，如达沙替尼或吉妥珠单抗ozogamicin。
Inversion of chromosome 16 [inv(16)] has a good prognosis in acute myeloid leukemia (AML), but additional genetic aberrations influence the outcome. We herein describe the case of a 15‐year‐old Japanese boy with inv(16) harboring a low‐allelic burden internal tandem duplication ofFLT3(FLT3‐ITD) andKITmutations. Conventional chemotherapy eradicated a clone with a low‐allelic burdenFLT3‐ITD mutation, although another clone with aKITmutation occurred 17 months later. Further investigation is necessary to identify AML with inv(16) conferring poor prognosis, to facilitate appropriate treatment with additional drugs, such as dasatinib or gemtuzumab ozogamicin.