Detection of abnormal numbers of chromosome 8 with interphase fluorescence in situ hybridization in hematologic malignancies / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the value of interphase fluorescence in situ hybridization (FISH) in the detection of abnormal numbers of chromosome 8 in patients with hematologic malignancies.</p><p><b>METHODS</b>Conventional cytogenetics(CC) and interphase FISH using chromosome 8 centromere specific probe were simultaneously carried out to detect the abnormal numbers of chromosome 8 in eight acute myeloid leukemia cases with CC unveiled abnormal numbers of chromosome 8, ten chronic myeloid leukemia cases in accelerated phase or blast crisis, and three normal individuals.</p><p><b>RESULTS</b>Nine cases that displayed trisomy 8 by means of CC were confirmed by FISH. Among them, Case 5 only displayed diploidy 8, trisomy 8 and tetrasomy 8 by CC, at the same time, FISH confirmed the presence of trisomy 8 and tetrasomy 8 and also revealed a low percentage of a pentasomy 8 clone. Case 3 and Case 17 had each only one cell with trisomy 8 by means of CC, and this could not determine whether they had the trisomy 8 clone, yet FISH confirmed the existence of trisomy 8 clone. Case 9 did not display trisomy 8 by CC, but FISH revealed the existence of trisomy 8 clone. In the other cases, the percentages of trisomy 8 cells determined by FISH were close to or significantly lower than those by CC, but for Case 16 where the percentage of trisomy 8 cells by FISH was significantly higher than that by CC.</p><p><b>CONCLUSION</b>Interphase FISH is a useful method for the detection of abnormal numbers of chromosome 8, especially in the patients with normal or unsure karyotype or with less and bad metaphases. It is an important complement to CC.</p>