Mitelman F, Heim S
Department of Clinical Genetics, University Hospital, Lund, Sweden.
Genes Chromosomes Cancer. 1992 Jul;5(1):57-66. doi: 10.1002/gcc.2870050109.
Using literature data on cytogenetic abnormalities in 3,612 cases of acute myeloid leukemia (AML) and 1,551-cases of acute lymphocytic leukemia (ALL), we have attempted to quantify the information value of finding the typical ALL- and AML-associated chromosome aberrations. Sensitivity, specificity, and predictive value of finding or not finding a given aberration were calculated for several diagnostic scenarios: for the differential diagnosis between ALL and AML when the patient is known to have acute leukemia, for the differential diagnosis among AML FAB subtypes in a patient with known AML, and for the differential diagnosis between ALL FAB subtypes in a patient with known ALL. The specificities were generally high, close to 1. The highest sensitivities in AML were found for +8, t(15;17)(q22;q11), t(8;21)(q22;q22), and -7 (all greater than 0.1), and in ALL for t(9;22)(q34;q11), t(4;11)(q21;q23), and +21 (again all greater than 0.1). In the AML subtypes, the highest sensitivities were 0.89 for t(15;17)(q22;q11) in M3, followed by 0.40 for t(8;21)(q22;q22) in M2, 0.30 for inv(16)(p13q22)/del(16)(q22)/t(16;16)(p13;q22) in M4, and 0.16 for t(9;11)(p21;q23) in M5. In the ALL subtypes, the highest sensitivities were 0.71 and 0.11 for t(8;14)(q24;q32) and t(8;22)(q24;q11), respectively, in L3, 0.23 for t(9;22)(q34;q11) in L2, and 0.18 and 0.13 for +21 and t(4;11)(q21;q23), respectively, in L1. The highest (1.0) positive predictive values in the AML versus ALL comparison were found for t(1;3)(p36;q21), inv(3)(q21q26), t(6;9)(p23;q34), t(7;11)(p15;p15), t(8;16)(p11;p13), t(8;21)(q22;q22), t(15;17)(q22;q11), and, as sole anomalies, for +4, +9, and +11. In the reverse comparison, ALL versus AML, positive predictive values of 1.0 were found for t(1;14)(p32-34;q11), dup(I)(q12-21q31-32), t(2;8)(p12;q24), t(8;14)(q24;q32), t/dic(9;12)(p11-12;p11-13), t(10;14)(q24;q11), and t(11;14)(p13;q11). Among the AML subgroups, the highest predictive values were: 1.0 for M3 if t(15;17), 0.91 for M2 if t(8;21), 0.86 for M4 if inv/del(16)/t(16;16), and 0.82 for M5 if t(9;11). Among the ALL subtypes, positive predictive values of greater than 0.8 were reached only for the L3-associated aberrations t(2;8) (1.0), t(8;14) (0.95), t(8;22) (0.87), and dup(I) (0.80). The highest negative predictive values were in AML 0.98 that the disease is not M3 if t(15;17) is not found, and in ALL 0.96 that the patient does not have L3 if a t(8;14) is not detected.
利用3612例急性髓系白血病（AML）和1551例急性淋巴细胞白血病（ALL）细胞遗传学异常的文献数据，我们试图量化发现典型的ALL和AML相关染色体畸变的信息价值。针对几种诊断情况计算了发现或未发现特定畸变的敏感性、特异性和预测值：对于已知患有急性白血病的患者，用于ALL和AML的鉴别诊断；对于已知患有AML的患者，用于AML FAB亚型之间的鉴别诊断；对于已知患有ALL的患者，用于ALL FAB亚型之间的鉴别诊断。特异性一般较高，接近1。在AML中，+8、t(15;17)(q22;q11)、t(8;21)(q22;q22)和-7的敏感性最高（均大于0.1）；在ALL中，t(9;22)(q34;q11)、t(4;11)(q21;q23)和+21的敏感性最高（同样均大于0.1）。在AML亚型中，M3中t(15;17)(q22;q11)的敏感性最高，为0.89，其次是M2中t(8;21)(q22;q22)的敏感性为0.40，M4中inv(16)(p13q22)/del(16)(q22)/t(16;16)(p13;q22)的敏感性为0.30，M5中t(9;11)(p21;q23)的敏感性为0.16。在ALL亚型中，L3中t(8;14)(q24;q32)和t(8;22)(q24;q11)的敏感性最高，分别为0.71和0.11，L2中t(9;22)(q34;q11)的敏感性为0.23，L1中+21和t(4;11)(q21;q23)的敏感性分别为0.18和0.13。在AML与ALL的比较中，t(1;3)(p36;q21)、inv(3)(q21q26)、t(6;9)(p23;q34)、t(7;11)(p15;p15)、t(8;16)(p11;p13)、t(8;21)(q22;q22)、t(15;17)(q22;q11)以及单独的+4、+9和+11的阳性预测值最高，为1.0。在相反的比较中，ALL与AML，t(1;14)(p32 - 34;q11)、dup(I)(q12 - 21q31 - 32)、t(2;8)(p12;q24)、t(8;14)(q24;q32)、t/dic(9;12)(p11 - 12;p11 - 13)、t(10;14)(q24;q11)和t(11;14)(p13;q11)的阳性预测值为1.0。在AML亚组中，最高预测值为：M3中t(15;17)时为1.0，M2中t(8;21)时为0.91，M4中inv/del(16)/t(16;16)时为0.86，M5中t(9;11)时为0.82。在ALL亚型中，仅L3相关的畸变t(2;8)（1.0）、t(8;14)（0.95）、t(8;22)（0.87）和dup(I)（0.80）的阳性预测值大于0.8。最高的阴性预测值在AML中，如果未发现t(15;17)，则疾病不是M3的概率为0.98；在ALL中，如果未检测到t(8;14)，则患者没有L3的概率为0.96。
Zotero 插件