Department of Pathology, Microbiology and Immunology, University of Nebraska Medical Center, Omaha, NE 68198, USA.
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Genes (Basel). 2024 Oct 22;15(11):1357. doi: 10.3390/genes15111357.
fusion is mostly derived from a reciprocal translocation t(9;22)(q34.1;q11.2) and is rarely caused by insertion. Various methods have been used for the detection of t(9;22)/, such as G-banded chromosomal analysis, fluorescence in situ hybridization (FISH), quantitative real-time reverse transcription-polymerase chain reaction (RT-PCR) and optical genome mapping (OGM). Understanding the strengths and limitations of each method is essential for the selection of appropriate method(s) of disease diagnosis and/or during the follow-up. We compared the results of OGM, chromosomal analysis, FISH, and/or RT-PCR in 12 cases with . was detected by FISH and RT-PCR in all 12 cases. One case with ins(22;9)/ was cryptic by chromosomal analysis and nearly missed by OGM. Atypical FISH signal patterns were observed in five cases, suggesting additional chromosomal aberrations involving chromosomes 9 and/or 22. RT-PCR identified the transcript isoforms p210 and p190 in seven and five cases, respectively. Chromosomal analysis revealed additional chromosomal aberrations in seven cases. OGM identified extra cytogenomic abnormalities in 10 cases, including chromoanagenesis and deletion, which were only detected by OGM. FISH offers rapid and definitive detection of fusion, while OGM provides a comprehensive cytogenomic analysis. In scenarios where OGM is feasible, chromosomal analysis and RT-PCR may not offer additional diagnostic value.
融合主要源自相互易位 t(9;22)(q34.1;q11.2)，很少由插入引起。已经使用了各种方法来检测 t(9;22)/，例如 G 带染色体分析、荧光原位杂交 (FISH)、实时定量逆转录聚合酶链反应 (RT-PCR) 和光学基因组图谱 (OGM)。了解每种方法的优缺点对于选择适当的疾病诊断方法（或在随访期间）至关重要。我们比较了 12 例患者的 OGM、染色体分析、FISH 和/或 RT-PCR 的结果。所有 12 例均通过 FISH 和 RT-PCR 检测到 。1 例染色体分析为隐匿性 ins(22;9)/，几乎被 OGM 漏诊。5 例观察到异常的 FISH 信号模式，提示涉及 9 号和/或 22 号染色体的额外染色体异常。RT-PCR 在 7 例和 5 例中分别鉴定出转录本异构体 p210 和 p190。染色体分析在 7 例中揭示了额外的染色体异常。OGM 在 10 例中鉴定出额外的细胞基因组异常，包括染色体嵌合体和缺失，这些异常仅通过 OGM 检测到。FISH 可快速、明确地检测到 融合，而 OGM 可提供全面的细胞基因组分析。在可行的情况下进行 OGM 时，染色体分析和 RT-PCR 可能不会提供额外的诊断价值。
