急性粒-单核细胞白血病CBFβ-MYH11融合基因转录本和inv(16)的检测

Detection of CBFβMYH11 fusion transcript and inv(16)(p13;q22) in acute myelomonocytic leukemia(M4) by RTPCR and FISH

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 study the clinical significance of inv(16) and CBFβMYH11 fusion gene in the diagnosis and prognosis for M4Eo.Methods:CBFβMYH11 fusion transcripts and inv (16) were analyzed by reversetranscriptase polymerase chain reaction(RTPCR) and fluorescence in situ hybridization(FISH),respectively,in acute myelomonocytic leukemia(M4) with or without eosinophilia.Results:In fifteen cases tested,one case of M4Eo and one of 9 M4 without eosinophilia were found to have CBFβMYH11 fusion transcript.Followup of the M4Eo patient showed residual PCR positivity 2 months after complete remission.Conclusion:The data suggest that screening by both RTPCR and FISH should be performed in all AMLM4 regardless of morphologic features to allow accurate diagnosis and prognosis of M4 patients.