Seol Chang Ahn, Cho Young-Uk, Jang Seongsoo, Park Chan-Jeoung, Lee Jung-Hee, Lee Je-Hwan, Lee Kyoo Hyung, Seo Eul-Ju
Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Republic of Korea.
Department of Internal Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Republic of Korea.
Cancer Genet. 2017 Oct;216-217:29-36. doi: 10.1016/j.cancergen.2017.06.001. Epub 2017 Jun 9.
In Philadelphia (Ph) chromosome-positive acute lymphoblastic leukemia (ALL), additional chromosomal abnormalities (ACAs) are frequently observed. We investigated the cytogenetic characteristics and prognostic significance of ACAs in Ph-positive ALL. We reviewed the clinical data and bone marrow cytogenetic findings of 122 adult Ph-positive ALL patients. The ACAs were examined for partial or whole chromosomal gains or losses, and structural aberrations. The overall survival (OS) and disease-free survival (DFS) of patients who received hematopoietic cell transplantation were compared between the isolated Ph group and ACA group. ACAs were present in 73.0% of all patients. The recurrent ACAs were extra Ph (24.7%), 9/9p loss (20.2%), and 7/7p loss (19.1%). Complex karyotype was found in 28.1% of patients in the ACA group. Younger patients (19-30 years) in the ACA group showed the highest frequency of extra Ph (54%) compared to other age groups. The OS in the ACA group was significantly shorter than in the isolated Ph group. The presence of an extra Ph chromosome or 9/9p loss was significantly associated with shorter OS and DFS, whereas 7/7p loss and complex karyotype were not associated with poorer prognosis. We suggest that subclassification of ACAs could be applied to prognostic investigation of Ph-positive ALL.
在费城(Ph)染色体阳性的急性淋巴细胞白血病(ALL)中,经常观察到额外的染色体异常(ACAs)。我们研究了Ph阳性ALL中ACAs的细胞遗传学特征和预后意义。我们回顾了122例成年Ph阳性ALL患者的临床资料和骨髓细胞遗传学结果。对ACAs进行了部分或整条染色体的获得或缺失以及结构畸变的检查。比较了接受造血细胞移植的患者在单纯Ph组和ACA组之间的总生存期(OS)和无病生存期(DFS)。所有患者中73.0%存在ACAs。常见的ACAs为额外的Ph(24.7%)、9号染色体短臂缺失(9/9p loss,20.2%)和7号染色体短臂缺失(7/7p loss,19.1%)。ACA组中28.1%的患者存在复杂核型。与其他年龄组相比,ACA组中较年轻的患者(19 - 30岁)出现额外Ph的频率最高(54%)。ACA组的OS明显短于单纯Ph组。额外的Ph染色体或9/9p缺失的存在与较短的OS和DFS显著相关,而7/7p缺失和复杂核型与较差的预后无关。我们建议ACAs的亚分类可应用于Ph阳性ALL的预后研究。