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1例罕见的伴t(1;5)(q23;q33)的髓外T/髓系混合表型急性白血病

A Rare Case of Extramedullary T/Myeloid Mixed Phenotype Acute Leukemia with t(1;5)(q23;q33).

作者信息

Monabati Ahmad, Safaei Akbar, Nouri Sadat, Safavi Moeinadin, Solhjoo Freidoon

机构信息

Department of Pathology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.

出版信息

Case Rep Pathol. 2016;2016:8937940. doi: 10.1155/2016/8937940. Epub 2016 Dec 26.

Abstract

Mixed phenotype acute leukemia (MPAL) is a rare neoplasm which accounts for 2-5% of all leukemias and it is classified under heading of acute leukemia of ambiguous lineage in 2008 WHO classification. This patient was a 61-year-old man who presented with malaise and weakness. In physical examination there was cervical and axillary lymphadenopathy. Paraclinical evaluation revealed anemia (Hb = 10.3 g/dL, MCV = 108 fl). Histologic sections of the axillary lymph node revealed leukemic involvement with two discrete populations of cells in immunohistochemistry. One population was immunoreactive for MPO and the other showed immunostaining for CD3, CD99, and tdt. Differential count of bone marrow cells in marrow aspirate had 6% blast. Karyotype study on bone marrow culture depicted an interesting finding which was t(1;5)(q23;q33). An extensive search on literature was done for the same genetic change. A similar translocation has been mentioned in literature for other hematologic malignancies but not for same neoplasm; anyhow this translocation was an imbalanced one and led to der(5)t(1;5)(q12-25;q13-q35).

摘要

混合表型急性白血病(MPAL)是一种罕见的肿瘤,占所有白血病的2%-5%,在2008年世界卫生组织分类中被归类为谱系不明的急性白血病。该患者为一名61岁男性,表现为全身乏力。体格检查发现颈部和腋窝淋巴结肿大。实验室检查显示贫血(血红蛋白=10.3g/dL,平均红细胞体积=108fl)。腋窝淋巴结组织学切片在免疫组化中显示白血病累及两种不同的细胞群。一群细胞对髓过氧化物酶(MPO)呈免疫反应,另一群细胞对CD3、CD99和末端脱氧核苷酸转移酶(tdt)呈免疫染色。骨髓穿刺液中骨髓细胞分类计数显示原始细胞占6%。骨髓培养的核型研究发现了一个有趣的结果,即t(1;5)(q23;q33)。针对相同的基因改变对文献进行了广泛检索。文献中提到其他血液系统恶性肿瘤存在类似的易位,但同一肿瘤未见报道;无论如何,这种易位是不平衡的,导致了der(5)t(1;5)(q12-25;q13-q35)。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2216/5220414/ec4e0ec7fb1b/CRIPA2016-8937940.001.jpg

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