# Chronic myeloid leukemia with e6a2 fusion gene: a case report and literature review

**Authors:** 静静 李, 玲玲 岳, 鹏云 曾, 重阳 吴, 慧玲 陈

PMC · DOI: 10.3760/cma.j.cn121090-20230930-00156 · Chinese Journal of Hematology · 2024-03-01

## TL;DR

This paper reports a rare case of chronic myeloid leukemia with the e6a2 fusion gene and reviews the literature on its clinical features and treatment response.

## Contribution

The study presents a rare case of CML with e6a2 fusion gene and its response to dasatinib treatment.

## Key findings

- The patient showed complete hematologic and cytogenetic responses after three months of dasatinib treatment.
- e6a2 transcript is rare and more cases are needed to understand its clinical features and improve treatment outcomes.

## Abstract

e6a2转录本类型的慢性髓性白血病（CML）临床上非常罕见，通常与疾病的侵袭有关，其临床特点及与酪氨酸激酶抑制剂疗效间的关系尚不明确。本文通过回顾性分析1例以全身多发溶骨性骨质破坏并胃肠道、淋巴结等多器官嗜酸性粒细胞浸润为特征的e6a2融合基因阳性CML患者的临床特点及相关实验室检查，并进行相关文献复习。该患者Ph染色体阳性，伴+8染色体，CML常见BCR::ABL1转录本均阴性，但通过RT-PCR检测出e6a2转录本阳性表达，予以达沙替尼100 mg/d治疗，3个月后复查达到了完全血液学反应、完全细胞遗传学反应及分子学反应4.0。e6a2转录本在临床上非常罕见，需研究更多e6a2转录本的病例以明确其临床特点，并改善这些罕见病例的治疗效果。

## Linked entities

- **Genes:** BCR (BCR activator of RhoGEF and GTPase) [NCBI Gene 613], ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) [NCBI Gene 25]
- **Chemicals:** dasatinib (PubChem CID 3062316)
- **Diseases:** chronic myeloid leukemia (MONDO:0011996)

## Full-text entities

- **Diseases:** CML (MESH:D015464), osteolytic bone destruction (MESH:D001847), Ph (MESH:D010677)
- **Chemicals:** dasatinib (MESH:D000069439)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11078659/full.md

## References

18 references — full list in the complete paper: https://tomesphere.com/paper/PMC11078659/full.md

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Source: https://tomesphere.com/paper/PMC11078659