Soler Gwendoline, Ouedraogo Zangbéwendé Guy, Goumy Carole, Lebecque Benjamin, Aspas Requena Gaspar, Ravinet Aurélie, Kanold Justyna, Véronèse Lauren, Tchirkov Andrei
Cytogénétique Médicale, CHU Clermont-Ferrand, CHU Estaing, 63000 Clermont-Ferrand, France.
Service de Biochimie et Génétique Moléculaire, CHU Clermont-Ferrand, 63000 Clermont-Ferrand, France.
Cancers (Basel). 2023 Apr 3;15(7):2131. doi: 10.3390/cancers15072131.
Cytogenetic aberrations are found in 65% of adults and 75% of children with acute leukemia. Specific aberrations are used as markers for the prognostic stratification of patients. The current standard cytogenetic procedure for acute leukemias is karyotyping in combination with FISH and RT-PCR. Optical genome mapping (OGM) is a new technology providing a precise identification of chromosomal abnormalities in a single approach. In our prospective study, the results obtained using OGM and standard techniques were compared in 29 cases of acute myeloid (AML) or lymphoblastic leukemia (ALL). OGM detected 73% (53/73) of abnormalities identified by standard methods. In AML cases, two single clones and three subclones were missed by OGM, but the assignment of patients to cytogenetic risk groups was concordant in all patients. OGM identified additional abnormalities in six cases, including one cryptic structural variant of clinical interest and two subclones. In B-ALL cases, OGM correctly detected all relevant aberrations and revealed additional potentially targetable alterations. In T-ALL cases, OGM characterized a complex karyotype in one case and identified additional abnormalities in two others. In conclusion, OGM is an attractive alternative to current multiple cytogenetic testing in acute leukemia that simplifies the procedure and reduces costs.
65%的成年急性白血病患者和75%的儿童急性白血病患者存在细胞遗传学异常。特定的异常被用作患者预后分层的标志物。目前急性白血病的标准细胞遗传学检测方法是核型分析结合荧光原位杂交（FISH）和逆转录聚合酶链反应（RT-PCR）。光学基因组图谱（OGM）是一项新技术，可通过单一方法精确识别染色体异常。在我们的前瞻性研究中，对29例急性髓系白血病（AML）或淋巴细胞白血病（ALL）病例使用OGM和标准技术获得的结果进行了比较。OGM检测到了标准方法所识别异常的73%（53/73）。在AML病例中，OGM遗漏了两个单克隆和三个亚克隆，但所有患者在细胞遗传学风险分组上是一致的。OGM在6例病例中发现了额外的异常，包括1个具有临床意义的隐匿性结构变异和2个亚克隆。在B-ALL病例中，OGM正确检测到了所有相关异常，并揭示了其他潜在的可靶向改变。在T-ALL病例中，OGM在1例中鉴定出复杂核型，并在另外2例中发现了额外异常。总之，对于急性白血病，OGM是目前多种细胞遗传学检测方法颇具吸引力的替代方案，它简化了检测流程并降低了成本。
