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形态学检查结果在复发性细胞遗传学异常的急性髓系白血病早期诊断中的预测价值

The predictive value of morphological findings in early diagnosis of acute myeloid leukemia with recurrent cytogenetic abnormalities.

作者信息

Jakovic Ljubomir, Bogdanovic Andrija, Djordjevic Vesna, Dencic-Fekete Marija, Kraguljac-Kurtovic Nada, Knezevic Vesna, Tosic Natasa, Pavlovic Sonja, Terzic Tatjana

机构信息

Clinic of Hematology, Clinical Center of Serbia, Koste Todorovica 2, 11000, Belgrade, Serbia.

Clinic of Hematology, Clinical Center of Serbia, Koste Todorovica 2, 11000, Belgrade, Serbia; Medical Faculty, University of Belgrade, Dr Subotica 8, 11000, Belgrade, Serbia.

出版信息

Leuk Res. 2018 Dec;75:23-28. doi: 10.1016/j.leukres.2018.10.017. Epub 2018 Nov 2.

DOI:10.1016/j.leukres.2018.10.017
PMID:30445236
Abstract

This study explores cytomorphologic features and their predictive role for early identification of acute myeloid leukemia (AML) with morphological distinctive recurrent cytogenetic abnormalities (RCA): t(15;17), t(8;21) and inv(16)/t(16;16). We retrospectively evaluated 396 de novo AML cases, diagnosed and treated at single institution, between 2013-2017. Specific cytomorphologic features suggesting distinctive AML-RCA were revealed at diagnosis in 62 (15.65%) patients, including AML with t(15;17) in 41 (66.13%), t(8;21) in 13 (20.97%) and inv(16)/t(16;16) in 8 (12.90%). Final diagnoses of AML-RCA according to WHO integrated diagnostic criteria were established in 66 (16.66%) cases, including AML with t(15;17) 40 (60.60%), t(8;21) 17 (25.76%), and inv(16)/t(16;16) 9 (13.64%). Discordance between cytomorphological and other integrated criteria was detected as missed/wrong-call in 0/1 for t(15;17), 6/2 for t(8;21) and 2/1 for inv(16)/t(16;16). The cytomorphological accuracy was 97.56% (40/41) for t(15;17), 57.89% (11/19) for t(8;21) and 70% (7/10) for inv (16)/t(16;16). Positive/negative predictive values of cytomorphological evaluation were: 97.56%/100% for t(15;17); 84.62%/88.68% for t(8;21); 87.50%/96.65% for inv(16)/t(16;16). Sensitivity/specificity were: 100%/96.15% for t(15;17); 64.10%/95.92% for t(8;21); 77.78%/98.25% for inv(16)/t(16;16). We confirmed that morphology is still a highly relevant evaluation method in diagnosing several common AML-RCAs before completing cytogenetic and molecular studies, enabling early detection, particularly of AML with t(15;17).

摘要

本研究探讨了细胞形态学特征及其在早期识别具有形态学独特复发性细胞遗传学异常(RCA)的急性髓系白血病(AML)中的预测作用,这些异常包括:t(15;17)、t(8;21)和inv(16)/t(16;16)。我们回顾性评估了2013年至2017年间在单一机构诊断和治疗的396例初发AML病例。在诊断时,62例(15.65%)患者显示出提示独特AML-RCA的特定细胞形态学特征,其中41例(66.13%)为伴有t(15;17)的AML,13例(20.97%)为伴有t(8;21)的AML,8例(12.90%)为伴有inv(16)/t(16;16)的AML。根据世界卫生组织综合诊断标准,最终确诊为AML-RCA的病例有66例(16.66%),其中伴有t(15;17)的AML有40例(60.60%),伴有t(8;21)的AML有17例(25.76%),伴有inv(16)/t(16;16)的AML有9例(13.64%)。在t(15;17)中,细胞形态学与其他综合标准之间的不一致表现为漏诊/误诊,t(15;17)为0/1,t(8;21)为6/2,inv(16)/t(16;16)为2/1。t(15;17)的细胞形态学准确性为97.56%(40/41),t(8;21)为57.89%(11/19),inv(16)/t(16;16)为70%(7/10)。细胞形态学评估的阳性/阴性预测值分别为:t(15;17)为97.56%/100%;t(8;21)为84.62%/88.68%;inv(16)/t(16;16)为87.50%/96.65%。敏感性/特异性分别为:t(15;17)为100%/96.15%;t(8;21)为64.10%/95.92%;inv(16)/t(16;16)为77.78%/98.25%。我们证实,在完成细胞遗传学和分子研究之前,形态学在诊断几种常见的AML-RCA中仍然是一种高度相关的评估方法,能够实现早期检测,尤其是伴有t(15;17)的AML。

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