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伴inv(16)(p13q22)的急性髓系白血病与慢性淋巴细胞白血病的同步诊断:一例报告并文献复习

Synchronous Diagnosis of Acute Myeloid Leukemia with inv(16)(p13q22) and Chronic Lymphocytic Leukemia: A Case Report and Review of the Literature.

作者信息

Shoyele Olubunmi, Gupta Gunjan

机构信息

Department of Pathology and Laboratory Medicine, Western Connecticut Health Network, Danbury, CT, USA

Department of Pathology and Laboratory Medicine, Western Connecticut Health Network, Danbury, CT, USA.

出版信息

Ann Clin Lab Sci. 2018 Nov;48(6):790-796.

Abstract

The occurrence of acute myeloid leukemia (AML) with chronic lymphocytic leukemia (CLL) is rare. Most cases of hematologic malignancies such as AML occurring in patients with pre-existing CLL are therapy-related. In this report, we describe a 65-year-old male with no past history of a hematolymphoid malignancy, who presented with abdominal pain. He was evaluated for acute diverticulitis, and incidentally found to have 14% circulating blasts upon peripheral blood smear review for anemia and thrombocytopenia. Bone marrow biopsy revealed 30-40% blasts and lymphoid aggregates. In conjunction with cytogenetics studies, a diagnosis of AML with inv(16)(p13q22) CBFB-MYH11, trisomy 8, monosomy 18, and concurrent CLL with trisomy 12 was made. Serial FISH studies were used to demonstrate that the nuclei with (CBFB-MYH11) fusion did not have trisomy 12 and it was concluded that AML and CLL cells arose from separate clones. He died 3 weeks following presentation from complications of diverticulitis. To our knowledge, this is the second reported case of AML with inv(16) and CLL.

摘要

急性髓系白血病(AML)合并慢性淋巴细胞白血病(CLL)的情况较为罕见。大多数发生于已有CLL患者的血液系统恶性肿瘤,如AML,都与治疗相关。在本报告中,我们描述了一名65岁男性,既往无血液淋巴系统恶性肿瘤病史,因腹痛就诊。他因急性憩室炎接受评估,在外周血涂片检查贫血和血小板减少时偶然发现有14%的循环原始细胞。骨髓活检显示原始细胞占30 - 40%,并有淋巴样聚集物。结合细胞遗传学研究,诊断为伴有inv(16)(p13q22)、CBFB - MYH11、三体8、单体18的AML以及伴有三体12的并发CLL。连续的荧光原位杂交(FISH)研究表明,具有(CBFB - MYH11)融合的细胞核没有三体12,得出AML和CLL细胞起源于不同克隆的结论。他在就诊3周后因憩室炎并发症死亡。据我们所知,这是第二例报告的伴有inv(16)的AML和CLL病例。

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