Application Value of CD138 MACS-FISH in the Genetic Diagnosis of Plasma Cell Dyscrasia / 中国实验血液学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the cytogenetic characteristics of the various plasma cell dyscrasia using the CD138 MACS-FISH, to elucidate the application value of MACS-FISH in the genetic diagnosis of plasma cell dyscrasia, and to explore the standardization of FISH detection for plasma cell dyscrasia.</p><p><b>METHODS</b>A total of 232 patients with newly diagnosed plasma cell dyscrasia were collected, including 203 cases of MM, 24 cases of AL amyloidosis and 5 cases of MGUS, whose cytogenetic abnormalities were detected by MACS-FISH, and the differences of the positive detection rates of chromosome karyotype analysis, C-FISH and MACS-FISH in MM cytogenetic abnormality were compared. The sensitivity of C-FISH and MACS-FISH were analyzed and compared according to the proportion of bone marrow plasma cells. The correlation between the positive cell rates of C-FISH and MACS-FISH and the proportion of plasma cells were analyzed respectively. The differences in the clone size detected by C-FISH and MACS-FISH were compared.</p><p><b>RESULTS</b>The incidence of cytogenetic abnormality of MM, AL amyloidosis and MGUS detected by MACS-FISH were 85.9%, 62.5%, 60%, respectively. The incidence rate of MM cytogenetic abnormality detected by Chromosome karyotype analysis and C-FISH were 20.0% and 64.7%, respectively, which were significantly lower than that of MACS-FISH(P<0.001). The positive rate of 14q32 translocation, del(14q32), t(11;14), +17p13 and the coexistence of 2 and ≥3 kinds of cytogenetic abnormalities detected by MACS-FISH were significantly higher than that detected by C-FISH(P<0.05). When the plasma cell ratio was less than or equal to 5%, the positive detection rate of MACS-FISH was significantly higher than that of C-FISH (P=0.001), and there was no significant difference in different plasma cell proportion group of MACS-FISH. However, when the plasma cell ratio was less than or equal to 5%, the positive detection rate of C-FISH detection was significantly lower than that of the other 3 groups (P=0.013,P=0.001,P<0.001). The positive cell rates of all cytogenetic abnormalities in C-FISH group and +1q21 and 14q32 translocation in MACS-FISH group were significantly positively correlated with the proportion of plasma cells(P<0.05). The clone size of various cytogenetic abnormalities in MACS-FISH group were significantly higher than that in C-FISH group(P<0.001).</p><p><b>CONCLUSION</b>MACS-FISH may significantly enhance the detection rate of cytogenetic abnormalities in various plasma cell dyscrasia, and it can better reflect the cytogenetic abnormality of plasma cell dyscrasia and its clone size. MACS-FISH may be recommended as a standard method for the genetic diagnosis of plasma cell dyscrasia, the risk stratification of MM and SMM, as well as the genetic diagnosis and research of MGUS and AL amyloidosis.</p>