A case of acute myeloid leukemia with e6a2 BCR-ABL fusion transcript acquired after progressing from chronic myelomonocytic leukemia.

A case of acute myeloid leukemia with e6a2 BCR-ABL fusion transcript acquired after progressing from chronic myelomonocytic leukemia.
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DOI:
10.1016/j.lrr.2017.01.003
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发表时间:
2017
影响因子:
--
通讯作者:
Chiu A
Chiu A
中科院分区:
其他
文献类型:
--
作者:
Yao J;Douer D;Wang L;Arcila ME;Nafa K;Chiu A

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Ph染色体是慢性粒细胞白血病(CML)的细胞遗传学标志。大多数CML患者携带e13 a2或e14 a2 BCR-ABL融合产物,而一小部分病例表达e1 a2或e19 a2转录本。我们报告一例慢性粒单核细胞白血病(CMML)患者,最初Ph染色体阴性,疾病迅速进展为急性髓系白血病(AML),并出现Ph染色体和BCR-ABL e6 a2,一种非常罕见的融合转录本。AML对治疗难治,随后出现Ph阴性白血病克隆并占主导地位。患者在疾病进展后不久死亡。
Philadelphia (Ph) chromosome is a cytogenetic hallmark of chronic myeloid leukemia (CML). Most patients with CML harbor either the e13a2 or e14a2 BCR-ABL fusion product, while a small subset of the cases expresses e1a2 or e19a2 transcripts. We report a patient with chronic myelomonocytic leukemia (CMML), initially Ph chromosome negative at presentation, with rapid disease progression to acute myeloid leukemia (AML) and appearance of Ph chromosome and BCR-ABL e6a2, a very uncommon fusion transcript. The AML was refractory to treatment with subsequent emergence and dominance of a Ph negative leukemic clone. The patient expired shortly after disease progression.