Shao Haigang, Yang Qian, Gong Yanlei, Bai Shuxiao, Zhang Jun, Wang Yong, Shen Juan, Wu Chunxiao, Qiu Huiying, Chen Suning, Pan Jinlan
The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of the Ministry of Health, Suzhou, Jiangsu 215006, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Feb 10;36(2):112-115. doi: 10.3760/cma.j.issn.1003-9406.2019.02.004.
To explore the clinical and laboratory characteristics of 5 patients with myeloid leukemia and t(12;22)(p13;q12).
Bone marrow cells were cultured for 24 h and analyzed by standard R-banding. Rearrangement of the MN1 gene was detected by fluorescence in situ hybridization (FISH) using dual color break-apart MN1 probes. MN1-ETV6 and ETV6-MN1 fusion genes were detected by reverse transcription polymerase chain reaction (RT-PCR). And the products were subjected to direct sequencing.
Among the 5 patients, 2 had AML-M0, 2 had AML-M4, and 1 had CMML at the initial diagnosis. t(12;22)(p13;q12) was the primary abnormality among all patients. Rearrangements of MN1 gene were detected by FISH in all patients. MN1-ETV6 and ETV6-MN1 fusion genes were detected respectively in 4 and 3 patients.
t(12;22)(p13;q12) is a rare but recurrent chromosomal abnormality in myeloid leukemia, and is related to poor prognosis. allo-SCT is valuable for patients with t(12;22)(p13;q12).
探讨5例伴t(12;22)(p13;q12)的髓系白血病患者的临床及实验室特征。
骨髓细胞培养24小时，采用标准R显带进行分析。使用双色断裂分离MN1探针通过荧光原位杂交（FISH）检测MN1基因重排。通过逆转录聚合酶链反应（RT-PCR）检测MN1-ETV6和ETV6-MN1融合基因，并对产物进行直接测序。
5例患者初诊时，2例为急性髓系白血病微分化型（AML-M0），2例为急性粒-单核细胞白血病（AML-M4），1例为慢性粒-单核细胞白血病（CMML）。t(12;22)(p13;q12)是所有患者的主要异常。所有患者均通过FISH检测到MN1基因重排。分别在4例和3例患者中检测到MN1-ETV6和ETV6-MN1融合基因。
t(12;22)(p13;q12)是髓系白血病中一种罕见但复发性的染色体异常，与预后不良相关。异基因造血干细胞移植（allo-SCT）对t(12;22)(p13;q12)患者有价值。
Zotero 插件