急性白血病伴11q23/MLL基因易位和扩增临床特点

文章编号]  2096-5532（2019）06-0679-06

doi：10.11712/jms201906012

[开放科学（资源服务）标识码（OSID）]

CLINICAL FEATURES OF ACUTE LEUKEMIA WITH 11Q23/MLL TRANSLOCATIONS OR AMPLIFICATIONS

ZHAO Xichen， SUN Xiaoyun， YI Li′an， ZHAO Li， JU Bo， ZHAO Hongguo

（Department of Hematology， Qingdao West Coast New Area Central Hospital， Qingdao， 266555， China）

[ABSTRACT] Objective To investigate the clinical features of acute leukemia （AL） with mixed-lineage leukemia （MLL） gene translocations or amplifications.

Methods Bone marrow cells were collected from 112 previously untreated adult patients with AL， and then cultured for a short period of 24 h followed by conventional chromosome preparation. The R-banding technique was applied for karyotype analysis. Interphase-fluorescence in situ hybridization （FISH） was used to detect gene abnormalities using the locus-specific identifier 11q23/MLL dual-color break-apart probe. Abnormal signals of the 11q23/MLL screened out by interphase-FISH would be further determined by metaphase-FISH. The clinical features of the patients with MLL translocations or amplifications were analyzed.

Results The 11q23/MLL translocations were observed in 9 cases （8.04%） and MLL amplifications in 8 cases （7.14%） of all the 112 AL patients according to FISH. There were similar clinical features between the patients with 11q23/MLL translocations and those with 11q23/MLL amplifications： a high incidence of extramedullary infiltration， a low sensitivity to cytotoxic drugs， a high early recurrence rate after treatment， a short survival time， and a poor prognosis. The patients with MLL gene abnormalities were frequently diagnosed with B-progenitor acute lymphoblastic leukemia， acute monocytic leukemia， or biphenotypic acute leukemia. A high expression of CD34 was observed in acute lymphoblastic leukemia， while a high expression of CD117， CD56， CD11b， and CD64 along with obvious dysplasia was observed in acute myeloid leukemia. The patients with MLL amplifications had an older age of onset， a relatively low white blood cell count， and more obvious dysplasia.