Qin You-Wen, Yang Yi-Ning, Bai Ping, Wang Chun
Department of Hematology, Shanghai First People's Hospital, Medical College, Shanghai Jiaotong University, Shanghai 200080, P.R. China.
Clinical Laboratory, Shanghai First People's Hospital, Medical College, Shanghai Jiaotong University, Shanghai 200080, P.R. China.
Oncol Lett. 2016 Jun;11(6):4131-4133. doi: 10.3892/ol.2016.4505. Epub 2016 Apr 27.
t(8;22)(p11;q11) is a rare but recurrent genetic alteration in various hematological disorders. Patients with t(8;22)(p11;q11) may be misdiagnosed with chronic myelogenous leukemia (CML), due to the similar clinical features. Thus, the current study presents a patient with t(8;22)(p11;q11) who was previously misdiagnosed with CML in the chronic phase. The current patient was a 26-year-old woman who was 4-weeks pregnant and in whom an increased white blood cell count (4.0×10/l) was found upon physical examination. The patient had no history of hematological disease. Although cytogenetics showed a normal karyotype and no breakpoint cluster region/Abelson murine leukemia viral oncogene homolog 1 (BCR/ABL) fusion gene was detected by reverse transcription-polymerase chain reaction, a diagnosis of chronic myelogenous leukemia (CML) was initially made according to the clinical and morphological features. Another 6 weeks later, t(8;22)(p11;q11) rearrangement was present in 9 out of 10 analyzed metaphases. Fluorescence hybridization and reverse transcription-polymerase chain reaction indicated a negative result for the BCR/ABL fusion, but gave a positive result for the BCR-fibroblast growth factor receptor 1 fusion. A hematological diagnosis of atypical CML was again formed.
t(8;22)(p11;q11)是各种血液系统疾病中一种罕见但反复出现的基因改变。由于临床特征相似,携带t(8;22)(p11;q11)的患者可能会被误诊为慢性粒细胞白血病(CML)。因此,本研究报告了一名携带t(8;22)(p11;q11)的患者,其之前在慢性期被误诊为CML。该患者为一名26岁的孕妇,体格检查时发现白细胞计数升高(4.0×10⁹/L)。患者无血液系统疾病史。尽管细胞遗传学显示核型正常,且逆转录-聚合酶链反应未检测到断裂点簇区域/阿贝尔森鼠白血病病毒癌基因同源物1(BCR/ABL)融合基因,但最初根据临床和形态学特征诊断为慢性粒细胞白血病(CML)。又过了6周,在分析的10个中期细胞中,有9个出现了t(8;22)(p11;q11)重排。荧光原位杂交和逆转录-聚合酶链反应显示BCR/ABL融合为阴性结果,但BCR-成纤维细胞生长因子受体1融合为阳性结果。再次形成了非典型CML的血液学诊断。