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目的：探讨ｉｎｖ（１６）和ＣＢＦβ－ＭＹＨ１１融合基因在急性髓系白血病Ｍ４ＥＯ型的临床诊断、预后判断中的意义。方法：用逆转录－聚合酶链反应（ＲＴ－ＰＣＲ）和荧光原位杂交（ＦＩＳＨ）技术分别检测急性粒－单核细胞白血病（Ｍ４）患者的ＣＢＦβ－ＭＹＨ１１融合基因转录本和ｉｎｖ（１６）。结果：在１５例中国人Ｍ４中，１０例患者用ＲＴ－ＰＣＲ方法检测ＣＢＦβ－ＭＹＨ１１融合基因转录本，其中９例不伴异常嗜酸粒细胞的Ｍ４中有１例阳性；１例伴异常嗜酸粒细胞增多（Ｍ４ＥＯ）为阳性。随访该例完全缓解２个月后，其ＰＣＲ仍持续阳性。用ＦＩＳＨ技术检测的９例Ｍ４中得到的２例阳性病例，与ＰＣＲ方法测得的结果完全一致。结论：对Ｍ４患者无论其经典的染色体核型分析有无１６号染色体异常的提示，都应用ＲＴ－ＰＣＲ和ＦＩＳＨ方法检测ＣＢＦβ－ＭＹＨ１１融合基因进行筛选，这对Ｍ４的临床诊断、预后判断等具有重要临床价值。
Objective: To investigate the significance of inv(16) and CBFβ-MYH11 fusion gene in the diagnosis and prognosis of acute myeloid leukemia M4EO. Methods: The CBFβ-MYH11 fusion gene transcripts and inv(16) of patients with acute myelomonocytic leukemia (M4) were detected by reverse transcription-polymerase chain reaction (RT-PCR) and fluorescence in situ hybridization (FISH), respectively. . Results: In 15 Chinese M4 patients, RT-PCR was used to detect CBFβ-MYH11 fusion gene transcripts in 10 patients, of which 9 cases were positive in M4 without abnormal eosinophils; 1 case was associated with abnormal apposition. M4EO is positive. After 2 months of complete remission in this case, PCR continued to be positive. The two positive cases obtained in 9 cases of M4 detected by FISH were completely consistent with the results obtained by the PCR method. Conclusions: For patients with M4 regardless of their classical chromosome karyotype analysis, there is no hint of abnormal chromosome 16, RT-PCR and FISH methods are used to detect the CBFβ-MYH11 fusion gene for screening, which has clinical diagnosis and prognosis judgment for M4. Important clinical value.