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伴有其他染色体异常且无Auer小体的急性早幼粒细胞白血病

Acute promyelocytic leukemia with additional chromosomal abnormalities and absence of Auer rods.

作者信息

Kaleem Z, Watson M S, Zutter M M, Blinder M A, Hess J L

机构信息

Lauren V. Ackerman Laboratory of Surgical Pathology, Department of Pathology, Washington University School of Medicine, St Louis, MO, USA.

出版信息

Am J Clin Pathol. 1999 Jul;112(1):113-8. doi: 10.1093/ajcp/112.1.113.

Abstract

We report 4 acute promyelocytic leukemia cases that demonstrated karyotypic abnormalities in addition to the classic t(15;17) translocation and did not contain any Auer rods in leukemic blasts and dysplastic promyelocytes, either in the peripheral blood or in the bone marrow. Morphologically, 2 cases were characterized as the common or hypergranular type, and 2 were otherwise typical of the microgranular variant. Three patients had typical clinical and laboratory signs of disseminated intravascular coagulation. Immunophenotypic analysis of the blasts and dysplastic promyelocytes by dual-color flow cytometry revealed an immunoprofile consistent with acute promyelocytic leukemia. Cytogenetic analysis of the bone marrow revealed the following karyotypes: case 1, [47,XY,t(15;17)(q22;q12),+21]; case 2, [47,XY,t(15;17)(q22;q12),-16,+2 mar]; case 3, [47,XX,t(15;17)(q22;q12)ider(17)(q10),+8]; and case 4, [47,XY,der(5)t(5;?9)(p15;q12).t(15;17)(q22;q12]. Review of an additional 7 cases with t(15;17) as the sole cytogenetic abnormality revealed Auer rods in all cases. Our findings emphasize the importance of cytogenetics in evaluating acute myeloid leukemias. Acute promyelocytic leukemia without Auer rods, which may be morphologically confused with other types of leukemia (in particular, acute myeloblastic leukemia, type M2 or M5) or agranulocytosis with maturation arrest, appears to be associated with additional chromosomal abnormalities and possibly a poorer prognosis.

摘要

我们报告了4例急性早幼粒细胞白血病病例,这些病例除了具有经典的t(15;17)易位外,还表现出核型异常,并且在白血病原始细胞和发育异常的早幼粒细胞中,无论是外周血还是骨髓中均未发现奥氏小体。形态学上,2例为常见或颗粒增多型,另外2例为典型的微颗粒变异型。3例患者具有弥散性血管内凝血的典型临床和实验室表现。通过双色流式细胞术对原始细胞和发育异常的早幼粒细胞进行免疫表型分析,显示免疫表型与急性早幼粒细胞白血病一致。骨髓细胞遗传学分析显示以下核型:病例1,[47,XY,t(15;17)(q22;q12),+21];病例2,[47,XY,t(15;17)(q22;q12),-16,+2 mar];病例3,[47,XX,t(15;17)(q22;q12)ider(17)(q10),+8];病例4,[47,XY,der(5)t(5;?9)(p15;q12).t(15;17)(q22;q12]。对另外7例以t(15;17)作为唯一细胞遗传学异常的病例进行回顾,发现所有病例均有奥氏小体。我们的研究结果强调了细胞遗传学在评估急性髓系白血病中的重要性。无奥氏小体的急性早幼粒细胞白血病,在形态学上可能与其他类型的白血病(特别是急性髓细胞白血病M2或M5型)或伴有成熟停滞的粒细胞缺乏症相混淆,似乎与额外的染色体异常有关,并且预后可能较差。

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