一种在急性髓系白血病M2型中出现的具有罕见表型的新型易位t(2;9)(q14;p12)：髓过氧化物酶阳性且髓系抗原阴性。

A novel translocation t(2;9)(q14;p12) in AML-M2 with an uncommon phenotype: myeloperoxidase-positive and myeloid antigen-negative.

作者信息

Specchia G, Mestice A, Clelia Storlazzi T, Anelli L, Pannunzio A, Grazia Roberti M, Rocchi M, Liso V

机构信息

Department of Hematology, University of Bari, Piazza Giulio Cesare n. 11, 70124, Bari, Italy.

出版信息

Leuk Res. 2001 Jun;25(6):501-7. doi: 10.1016/s0145-2126(00)00160-0.

DOI:10.1016/s0145-2126(00)00160-0

PMID:11337024

Abstract

We report a case of acute myeloid leukemia (AML-M2) expressing myeloperoxidase (MPO) but no myeloid antigens. A few cases with this discordant phenotype have been reported and an association has been suggested between the lack of CD13 and CD33 in MPO positive AML and the presence of t(8;21). Cytogenetic and molecular analyses performed in our case showed 48,XY,+Y,+8,t(2;9)(q14;p12). We believe that combined approaches can contribute to detect particular AL cases like the present one, that confirms the heterogeneity of AML. However, further studies are needed to clarify the relationship between phenotypic aberrations and cytogenetic abnormalities.

摘要

我们报告了一例表达髓过氧化物酶（MPO）但无髓系抗原的急性髓系白血病（AML-M2）病例。此前已报道过几例具有这种不一致表型的病例，并有人提出MPO阳性AML中CD13和CD33缺失与t(8;21)的存在之间存在关联。我们对该病例进行的细胞遗传学和分子分析显示为48,XY,+Y,+8,t(2;9)(q14;p12)。我们认为，联合方法有助于检测出像本病例这样的特殊急性白血病病例，这证实了AML的异质性。然而，需要进一步研究以阐明表型异常与细胞遗传学异常之间的关系。