Díez-Martín J L, Buño I, Llamas P, Gosálvez J, López-Fernández C, Polo N, Regidor C
Department of Haematology, Clínica Puerta de Hierro, Spain.
Cancer Detect Prev. 2000;24(2):169-72.
The usefulness of fluorescence in situ hybridization (FISH) analysis to detect minimal residual disease (MRD) in autologous bone marrow and peripheral blood stem-cell harvests has been tested in three patients with hematologic malignancies. Conventional cytogenetics and FISH were used to characterize the leukemic clones identifying the specific chromosomal abnormalities (monosomy 7 in a myelodysplastic patient and trisomy 8 in two acute myeloid leukemic patients). Such analysis was useful to monitor the MRD persistent after treating these patients with intensive chemotherapy. The myelodysplastic patient underwent eight peripheral blood-stem cell harvests in which FISH detected the persistence of monosomy 7 cells, precluding their use for autologous transplantation. This patient relapsed and died. In two acute myeloid leukemia patients who underwent an autologous marrow harvest, FISH did not show a significant proportion of trisomy 8 cells. Nevertheless, autologous transplantation was not performed, owing to an insufficient CD34 cell content in the harvests. One of these patients relapsed with the reappearance of trisomy 8 and died. The other patient, on the contrary, is alive in complete remission 3 years after the bone marrow harvest. The usefulness and applicability of MRD quantification in stem-cell harvests is discussed on the basis of the sensitivity of the methodology applied.
荧光原位杂交（FISH）分析用于检测血液系统恶性肿瘤患者自体骨髓和外周血干细胞采集物中微小残留病（MRD）的有效性，已在3例患者中进行了测试。采用传统细胞遗传学和FISH对白血病克隆进行特征分析，以识别特定的染色体异常（1例骨髓增生异常患者为7号染色体单体，2例急性髓系白血病患者为8号染色体三体）。这种分析有助于监测这些患者接受强化化疗后持续存在的MRD。该骨髓增生异常患者进行了8次外周血干细胞采集，FISH检测到7号染色体单体细胞持续存在，因此不能用于自体移植。该患者复发并死亡。在2例接受自体骨髓采集的急性髓系白血病患者中，FISH未显示有显著比例的8号染色体三体细胞。然而，由于采集物中CD34细胞含量不足，未进行自体移植。其中1例患者复发，再次出现8号染色体三体并死亡。相反，另1例患者在骨髓采集3年后仍处于完全缓解状态且存活。基于所应用方法的敏感性，讨论了干细胞采集物中MRD定量的有效性和适用性。
