Kadkol ShriHari S, Bruno Annette, Dodge Carol, Lindgren Valerie, Ravandi Farhad
Departments of Pathology, University of Illinois at Chicago, Chicago, Illinois 60612, USA.
J Mol Diagn. 2004 Feb;6(1):22-7. doi: 10.1016/s1525-1578(10)60487-4.
CBFbeta-MYH11 fusion transcripts are expressed in acute myeloid leukemias of the M4Eo subtype. Patients who express CBFbeta-MYH11 fusion transcripts respond favorably to high-dose chemotherapy and are generally spared allogeneic bone marrow transplantation. Hence it is important to identify this fusion in all patients with acute myeloid leukemia M4Eo leukemia. The fusion can be detected by cytogenetics, fluorescence in-situ hybridization (FISH), or by molecular analysis with RT-PCR. Multiple fusion transcripts arising as a result of various breakpoints in the CBFbeta and MYH11 have been identified. In this report we describe a comprehensive RT-PCR assay to identify all known fusion transcripts and provide an algorithm for molecular analysis of CBFbeta-MYH11 fusions from patient specimens. Further, identification of the fusion transcript by such an assay would help in the diagnosis and follow up of patients with cryptic inversion 16 translocations (such as patient 2 in this report) not detected by standard cytogenetics or FISH and for rational design of probes for quantitative analysis by real-time PCR.
CBFβ-MYH11融合转录本在M4Eo亚型的急性髓系白血病中表达。表达CBFβ-MYH11融合转录本的患者对大剂量化疗反应良好，通常无需进行异基因骨髓移植。因此，在所有急性髓系白血病M4Eo患者中识别这种融合至关重要。该融合可通过细胞遗传学、荧光原位杂交（FISH）或RT-PCR分子分析检测。已鉴定出由于CBFβ和MYH11中各种断点产生的多种融合转录本。在本报告中，我们描述了一种全面的RT-PCR检测方法，以识别所有已知的融合转录本，并提供一种对患者标本中CBFβ-MYH11融合进行分子分析的算法。此外，通过这种检测方法鉴定融合转录本将有助于诊断和随访标准细胞遗传学或FISH未检测到的隐匿性16号染色体倒位易位患者（如本报告中的患者2），并有助于合理设计用于实时PCR定量分析的探针。
