一例伴有8号染色体重排及MOZ-NCOA2基因融合的急性粒单核细胞白血病。

A further case of acute myelomonocytic leukemia with inv(8) chromosomal rearrangement and MOZ-NCOA2 gene fusion.

作者信息

Murati Anne, Adélaïde José, Popovici Cornel, Mozziconacci Marie-Joëlle, Arnoulet Christine, Lafage-Pochitaloff Marina, Sainty Danielle, Birnbaum Daniel, Chaffanet Max

机构信息

Département d'Oncologie Moléculaire, Laboratoire de Cytogénétique Moléculaire, Institut Paoli-Calmettes and U119 INSERM, 232 boulevard de Sainte-Marguerite, 13373 Marseille Cedex 9, France.

出版信息

Int J Mol Med. 2003 Oct;12(4):423-8.

PMID:12964013

Abstract

We report here the sixth case of acute monoblastic leukemia associated with the inv(8)(p11q13) pericentric inversion. As seen in the previous cases, the inv(8)(p11q13) molecular characterization showed that the alteration results in a MOZ-NCOA2 gene fusion. The presence of erythrophagocytosis is a distinctive morphologic feature that is observed in all patients with MOZ alteration. However, the relative young age of the 6 patients (median: 23.5 years) and same sex (female) are the common characteristics that are only observed in the inv(8)-positive leukemia subgroup. In addition, we tested whether the presence of FLT3 internal duplications (ITD) are frequently found in malignant hemopathies with 8p11-12 rearrangements. We did not find any FLT3 ITD in any of the studied cases.

摘要

我们在此报告第六例与inv(8)(p11q13)臂间倒位相关的急性单核细胞白血病。如先前病例所见，inv(8)(p11q13)分子特征显示该改变导致MOZ-NCOA2基因融合。噬红细胞现象的存在是所有MOZ改变患者中观察到的一个独特形态学特征。然而，这6例患者相对年轻（中位年龄：23.5岁）且性别相同（女性）是仅在inv(8)阳性白血病亚组中观察到的共同特征。此外，我们检测了伴有8p11-12重排的恶性血液病中是否经常发现FLT3内部重复（ITD）。在任何研究病例中我们均未发现任何FLT3 ITD。