Department of Malignant Hematology, H. Lee Moffitt Cancer Center, Tampa, FL.
Department of Malignant Hematology, H. Lee Moffitt Cancer Center, Tampa, FL.
Clin Lymphoma Myeloma Leuk. 2021 Jan;21(1):e52-e56. doi: 10.1016/j.clml.2020.08.012. Epub 2020 Aug 18.
Cytogenetic profile is an essential parameter in myelodysplastic syndromes (MDS) risk stratification by both International Prognostic Symptom Score (IPSS) and Revised (R)-IPSS. Almost one-half of patients with MDS have normal cytogenetics by metaphase karyotype. Here we report the yield of MDS fluorescence in situ hybridization (FISH) panel detecting cytogenetic abnormalities in these patients and its impact on risk stratification.
Among patients with normal metaphase karyotype, we assessed those patients who had cytogenetic abnormalities detected by an MDS FISH panel, which included probes for del (5), del (7), del (20), trisomy 8, and del (17p). Risk stratification was calculated by both IPSS and R-IPSS.
Of 1600 patients with MDS with normal metaphase karyotype, 53 (3%) patients had cytogenetic abnormality detected by MDS FISH panel. Integrating the MDS FISH panel cytogenetics (IPSS + FISH restaging) resulted in upstaging the score, where 53% of low-risk IPSS were upstaged to intermediate (int)-1, 56% of int-1 were upstaged to int-2, and 78% of int-2 were upstaged to high risk. Based on the R-IPSS, 61% of very low-risk patients, all low-risk patients, 92% of intermediate-risk patients, and 50% of high-risk patients with FISH abnormalities were upstaged, respectively.
The yield of MDS FISH panel detecting cytogenetic abnormalities in patients with normal karyotype by G-banding is low and may not warrant ordering the panel in all patients. Among the 3% of patients with normal karyotype who had cytogenetic abnormality detected by FISH, the risk score assignment by IPSS and R-IPSS was upstaged.
细胞遗传学特征是国际预后积分系统（IPSS）和修订版（R）-IPSS 进行骨髓增生异常综合征（MDS）危险分层的重要参数。几乎有一半的 MDS 患者通过中期核型具有正常的细胞遗传学。在此，我们报告了在这些患者中检测细胞遗传学异常的 MDS 荧光原位杂交（FISH）检测板的检出率及其对危险分层的影响。
在具有正常中期核型的患者中，我们评估了那些通过 MDS FISH 检测板检测到细胞遗传学异常的患者，该检测板包括 del（5）、del（7）、del（20）、三体 8 和 del（17p）的探针。通过 IPSS 和 R-IPSS 计算危险分层。
在 1600 例具有正常中期核型的 MDS 患者中，有 53 例（3%）患者通过 MDS FISH 检测板检测到细胞遗传学异常。整合 MDS FISH 检测板细胞遗传学（IPSS+FISH 重新分期）可提高评分，其中 53%的低危 IPSS 被升级为中危-1，56%的中危-1 被升级为中危-2，78%的中危-2 被升级为高危。根据 R-IPSS，分别有 61%的极低危患者、所有低危患者、92%的中危患者和 50%的高危患者伴有 FISH 异常被升级。
用 G 带对核型正常的患者进行 MDS FISH 检测板检测细胞遗传学异常的检出率较低，可能无需对所有患者进行检测板检测。在通过 FISH 检测到核型正常的患者中，有 3%的患者存在细胞遗传学异常，IPSS 和 R-IPSS 的危险评分分配被升级。
