Han Yong-sheng, Xue Yong-quan, Zhang Jun
Department of Hematology, Anhui Medical University, Hefei, Anhui, People's Republic of China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Apr;29(2):137-40. doi: 10.3760/cma.j.issn.1003-9406.2012.02.004.
To report on a rare case of B-lineage acute lymphoblastic leukemia (B-ALL) with t(14;14) (q11;q32) and clarify its clinical and molecular cytogenetic features.
Clinical data of a B-ALL patient with t(14;14) (q11;q32) were analyzed. After 24 hour of unstimulated culturing, chromosome specimens of bone marrow cells were prepared with regular method, and R-banding was used for karyotype analysis. Fluorescence in situ hybridization (FISH) analysis was performed on fixed bone marrow cells using IGH dual-color break-apart probe, CEBPE dual-color break-apart probe, whole chromosome paint (WCP) probe for chromosome 4, and Chromoprobe Multiprobe-ALL System probe.
The 39-year-old female was diagnosed with B-ALL based on morphologic and immunophenotypic analyses. Conventional cytogenetic analysis showed a karyotype of 47, XX, +4, t(14;14) (q11;q32) [20], which was confirmed by FISH analysis. FISH using IGH-dual-color break-apart probe confirmed involvement of IGH gene in t(14;14) (q11;q32), and FISH using CEBPE dual-color break-apart probe indicated that CEBPE is the partner gene involved in t(14;14) (q11; q32). The patient achieved complete remission (CR) after a round of combined chemotherapy. At the time of follow-up, she had remained CR for more than 6 months.
t(14;14) (q11;q32) simultaneously involving IGH and CEBPE genes in B-ALL is a rare but recurrent genetic abnormality that may identify a new subgroup of B-ALL. In B-ALL patients, t(14; 14) (q11; q32) involving IGH/CEBPE translocation may indicate a better prognosis.
报告1例罕见的伴有t(14;14)(q11;q32)的B系急性淋巴细胞白血病（B-ALL）病例，并阐明其临床及分子细胞遗传学特征。
分析1例伴有t(14;14)(q11;q32)的B-ALL患者的临床资料。未刺激培养24小时后，采用常规方法制备骨髓细胞染色体标本，用R显带进行核型分析。使用IGH双色断裂分离探针、CEBPE双色断裂分离探针、4号染色体全染色体涂染（WCP）探针及染色体多探针-ALL系统探针，对固定的骨髓细胞进行荧光原位杂交（FISH）分析。
该39岁女性经形态学和免疫表型分析诊断为B-ALL。常规细胞遗传学分析显示核型为47,XX,+4,t(14;14)(q11;q32)[20]，FISH分析证实了这一结果。使用IGH双色断裂分离探针的FISH证实IGH基因参与了t(14;14)(q11;q32)，使用CEBPE双色断裂分离探针的FISH表明CEBPE是参与t(14;14)(q11;q32)的伙伴基因。该患者经一轮联合化疗后达到完全缓解（CR）。随访时，她已持续CR超过6个月。
B-ALL中同时涉及IGH和CEBPE基因的t(14;14)(q11;q32)是一种罕见但复发性的基因异常，可能确定B-ALL的一个新亚组。在B-ALL患者中，涉及IGH/CEBPE易位的t(14;14)(q11;q32)可能提示较好的预后。
