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患者存在 PDGFRB 基因重排,同时患有急性髓系白血病和 T 淋巴母细胞淋巴瘤。

Concurrent acute myeloid leukemia and T lymphoblastic lymphoma in a patient with rearranged PDGFRB genes.

机构信息

School of Medicine, Chang Gung University, Taoyuan, Taiwan.

出版信息

Diagn Pathol. 2012 Feb 22;7:19. doi: 10.1186/1746-1596-7-19.

Abstract

Concurrent hematologic malignancies are relatively rare. We encountered a case of concurrent acute myeloid leukemia (AML) and T lymphoblastic lymphoma. The bone marrow chromosome analysis showed the karyotype 46, XY, t(5;12)(q33;p13), which indicated presence of PDGFRB gene translocations. Therefore, this disease belongs to the new WHO category of myeloid and lymphoid neoplasms with abnormalities in PDGFRA, PDGFRB and FGFR1 genes. Although such genetic mutations are prone to multi-lineage differentiation, the present case is in fact the first report of concurrent AML and T lymphoblastic lymphoma involving PDGFRB mutations. The patient was treated with cytarabine and daunomycin in combination with high dose dexamethasone. Allogeneic stem cell transplantation was performed after successful remission induction for both entities. The patient eventually died of chronic graft-versus-host-disease related infection. Based on such an experience, we suggest the decision of stem cell transplantation should be weighed carefully against the risks, especially when tyrosine kinase inhibitors are safe and potentially effective in dealing with such entities.

摘要

同时性血液系统恶性肿瘤较为罕见。我们遇到了一例同时性急性髓系白血病(AML)和 T 淋巴母细胞淋巴瘤。骨髓染色体分析显示核型为 46,XY,t(5;12)(q33;p13),提示存在 PDGFRB 基因易位。因此,该疾病属于新的 WHO 分类中的伴有 PDGFRA、PDGFRB 和 FGFR1 基因异常的髓系和淋巴系肿瘤。尽管这种基因突变容易导致多谱系分化,但本例实际上是首例同时性 AML 和 T 淋巴母细胞淋巴瘤合并 PDGFRB 突变的报告。该患者接受了阿糖胞苷和柔红霉素联合大剂量地塞米松治疗。在两个实体成功诱导缓解后进行了异基因造血干细胞移植。患者最终死于慢性移植物抗宿主病相关感染。基于这一经验,我们建议在权衡干细胞移植的决策时应仔细考虑风险,特别是当酪氨酸激酶抑制剂在处理此类实体瘤时安全且具有潜在疗效时。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9eed/3307482/bed265ed355a/1746-1596-7-19-1.jpg

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