1、 Laboratory Diagnostics Zhou Jianfeng Division of Hematology “实验诊断学实验诊断学” 的意义的意义 ？如何选择正确的检验项目如何选择正确的检验项目 ？如何正确分析检验结果如何正确分析检验结果 ？“实验诊断学实验诊断学” 发展的新趋势发展的新趋势 ？实验诊断学的核心问题实验诊断学的核心问题Taking a HistoryPerform a Physical ExaminationDevelop HypothesesGenerate a Differential DiagnosesLaboratory DiagnosticsTest t
2、he HypothesesModify your differential DiagnosisReach a final Diagnosis Finding Clues to The Diagnosis& History taking, where clues are symptoms;& Physical examination, where the physical signs are clues;& Laboratory examination, where the clues are findings from cytologic, chemical and immunologic t
3、ests of tissues, body fluids, and excreta;& Special anatomic and physiologic examinations. Evidence suggests that most diagnoses results from findings in the history, and to a lesser, the physical examination and laboratory testing. Laboratory Diagnostics: Change The Medical HistoryThe widespread ap
4、plication of bone marrow transplantation (BMT) to the treatment of a steadily increasing number of life-threatening hematological, oncological, hereditary, and immunological disorders is the culmination of more than four decades of research by many investigators. Laboratory Diagnostics: Change The M
5、edical HistoryEarly attempts in 1950s to transplant living cells from one individual to another were carried out in the face of considerable skepticism. Many believed that the immunological barrier to “foreign tissue” could never be overcome. Laboratory Diagnostics: Change The Medical HistoryExcept
6、for a few patients with an identical twin donor, there were no survivors beyond a few months. Thus, after a brief period of enthusiasm, most investigators abandoned this seemingly hopeless pursuit. Laboratory Diagnostics: Change The Medical HistoryWith understanding of the human leukocyte antigen (H
7、LA system) and the complication we now call graft-versus-host disease, currently thousands of transplants are being performed each year world-wide. For some of the disease, BMT has already proven to be the most effective therapy, whereas for others it is the only available curative treatment. Chroni
8、c phase Accelerated phase Blast phase/acute phase /blast crisisPatients in this phase have fewer than 10% blasts (or 20% blasts and promyelocytes combined) in blood or bone marrow samples. These patients usually have relatively mild symptoms and usually respond to standard treatments. Quantitative D
9、efinition Makes AccuracyChronic phase The standard definition of this phase is that bone marrow or blood samples have more than 10% blasts (or 20% blasts and promyelocytes combined) but fewer than 30% blasts and promyelocytes. These patients often have fever, poor appetite, and weight loss. Symptoms
10、 and blood counts are not as responsive to treatments as they are during the chronic phase. Quantitative Definition Makes AccuracyAccelerated phaseBone marrow and/or blood samples from a patient in this phase have more than 30% blasts and promyelocytes. The blast cells often spread to tissues and or
11、gans beyond the bone marrow. At this point the CML has transformed into a very aggressive acute leukemia. Quantitative Definition Makes AccuracyBlast Crisis特征： 骨髓增生明显极度活跃。 粒：红=3.6:1 分类中粒系统占计数20.4%，中性粒细胞各阶段比例均减低。 红系统减少占红系统减少占5.6%，成熟红细胞形态、大小无明显异常。，成熟红细胞形态、大小无明显异常。 淋巴细胞显著增生占74%，其中幼淋占14%，胞体较小，核圆，部分凹陷、折叠
12、，染色质细，排列致密，胞浆量少。 血小板散在易见，易找到巨核细胞。 血片：淋巴细胞增多占94%，其中幼淋占9%。骨髓细胞学诊断意见：诊断意见：淋巴瘤骨髓浸润或慢性淋巴细胞白血病，建议相关检查确诊淋巴瘤骨髓浸润或慢性淋巴细胞白血病，建议相关检查确诊。 IgH/TCR 受体基因重排阳性：淋巴瘤受体基因重排阳性：淋巴瘤或慢淋或慢淋流式结果：约 45% 细胞为单克隆性异常 B 淋巴细胞，不似典型慢淋、毛白、Burrkit 淋巴瘤，不能除外滤泡淋巴瘤、不典型慢淋或其它类型B淋巴细胞淋巴瘤骨髓浸润。 用用 FISH 技术进一步检测了淋巴瘤或慢淋的特技术进一步检测了淋巴瘤或慢淋的特异性染色体标记异性染色体标
13、记FISH 结果总结结果总结IgH 分离探针分离探针IgH/BCL2 探针探针IgH/CCND1 探针探针13q14.3 缺失探针缺失探针P53 基因缺失探针基因缺失探针12号染色体号染色体ATM 基因基因MYB 基因缺失探针基因缺失探针支持滤泡淋巴瘤支持滤泡淋巴瘤阳性阳性阴性阴性阴性阴性排除套细胞淋巴瘤排除套细胞淋巴瘤排除慢淋排除慢淋诊断考虑：滤泡性淋巴瘤诊断考虑：滤泡性淋巴瘤 白血病期白血病期滤泡性淋巴瘤滤泡性淋巴瘤 慢淋慢淋套细胞淋巴瘤套细胞淋巴瘤 毛白毛白脾边缘带淋巴瘤脾边缘带淋巴瘤 为什么还需淋巴结活检为什么还需淋巴结活检 ？u 诊断诊断u 组织学分级组织学分级 （3 3 级以上治疗
14、方案不同）级以上治疗方案不同）u 排除未向弥漫大排除未向弥漫大B B细胞性淋巴瘤转化细胞性淋巴瘤转化Favorable MarkerUnfavorable MarkerTreatment of Philadelphia chromosomepositive acute lymphocytic leukemia with hyper-CVAD and imatinib mesylate. Blood, Jun 2004;103: 4396 - 4407 Laboratory Diagnostics: Appropriate Selection of Diagnosis TestsSelect d
15、iagnostic tests indicated by clues from history and the physical examination. 血常规：是否贫血？ 缺铁？YES!缺铁性贫血NO!Hb?巨幼贫？巨幼贫NO! YES!肝、内分泌NO! YES!溶贫？溶贫？骨髓受抑？骨髓受抑？血片血片铁粒幼细胞贫血铁粒幼细胞贫血珠蛋白生成障碍珠蛋白生成障碍其他Many factors can affect test results, including:sex age race medical history general health specific foods drugs you
16、 are taking how closely your follow preparatory instructions variations in laboratory techniques variation from one laboratory to another Normal Values: the size of the zone of induration.Explanation of the Test: explain the action of the test.Methods of Testing: Procedure:Clinical Implications: The presence of a TB infection (active or dormant infection), a positive reaction in healthy persons usually signified healed TB or an infection caused by a different mycobacteria.Interfering factors: AML：异质性疾病群体异质性疾病群体诊治水平差异在哪里诊治水平差异在哪里 ？31%14%55%
