Department of Pathology, University of Southern California Keck School of Medicine, 1200 N State St, Room GNH 3850, Los Angeles, CA 90033, United States.
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX 77030, United States.
Ann Diagn Pathol. 2016 Apr;21:53-8. doi: 10.1016/j.anndiagpath.2015.12.004. Epub 2016 Feb 6.
Patients with chronic myelogenous leukemia (CML) present typically with an elevated white blood cell count (WBC) and cytogenetic or molecular genetic evidence of t(9;22)/BCR-ABL1 fusion gene. Rarely, CML patients may present with a normal or mildly elevated WBC and are asymptomatic, and we describe 7 patients in this study. The WBC in these patients ranged from 3.6 to 14.3 K/mm(3) with 50% to 73% granulocytes and 0% blasts. In all patients, t(9;22)(q34;q11.2) was detected by conventional cytogenetics, and BCR-ABL1 fusion was shown, supporting the diagnosis of preleukemic CML (pre-CML). We compared these patients with a group of 5 cases of CML in chronic phase (CML-CP) and 5 bone marrow specimens with a leukemoid reaction (n=5). Reticulin, CD34, and CD61 immunostains were performed on all bone marrow biopsy specimens. Peripheral blood absolute basophilia (≥200/mm(3)) was noted in only 4 of 7 pre-CML cases, whereas it was present in all CML-CP cases and absent in leukemoid reaction cases. The mean ±SD of microvascular density of pre-CML cases (10.0 ± 4.3 vessels/200× field) was twice that of leukemoid reaction cases (5.0 ± 1.0) (P=.02; Student t test) but similar to that of CML-CP cases (12.5 ± 3.6). Microvessels in pre-CML, highlighted by CD34, were tortuous with abnormal branching, although to a lesser extent than those found in CML-CP. Microvessels in leukemoid reaction were generally straight. The percentage of small, hypolobated megakaryocytes, highlighted by CD61 in pre-CML, was 40%, 3 times that found in leukemoid reaction cases (13%) but less than that of CML-CP cases (86%). We conclude that pre-CML should be suspected in patients with a normal to mildly elevated WBC and absolute basophilia. Bone marrow examination can usually distinguish pre-CML from a leukemoid reaction based on the percentage of small, hypolobated megakaryocytes; microvascular density; and morphologic features.
慢性髓性白血病(CML)患者通常表现为白细胞计数(WBC)升高,并且存在 t(9;22)/BCR-ABL1 融合基因的细胞遗传学或分子遗传学证据。罕见情况下,CML 患者可能表现为 WBC 正常或轻度升高且无症状,本研究描述了 7 例此类患者。这些患者的 WBC 范围为 3.6 至 14.3 K/mm³,其中 50%至 73%为粒细胞,无原始细胞。所有患者均通过常规细胞遗传学检测到 t(9;22)(q34;q11.2),并且显示 BCR-ABL1 融合,支持前白血病性 CML(pre-CML)的诊断。我们将这些患者与 5 例慢性期 CML(CML-CP)和 5 例骨髓有类白血病反应(n=5)的患者进行了比较。对所有骨髓活检标本均进行了网状蛋白、CD34 和 CD61 免疫染色。仅在 7 例 pre-CML 病例中的 4 例中观察到外周血绝对嗜碱性粒细胞(≥200/mm³),而在所有 CML-CP 病例中均存在,在类白血病反应病例中则不存在。pre-CML 病例的微血管密度平均值±标准差(10.0±4.3 个血管/200×场)是类白血病反应病例(5.0±1.0)的两倍(P=.02;Student t 检验),但与 CML-CP 病例(12.5±3.6)相似。pre-CML 中由 CD34 突出显示的微血管呈迂曲状,分支异常,尽管程度不及 CML-CP 中观察到的那样。类白血病反应中的微血管通常较直。pre-CML 中由 CD61 突出显示的小、低叶巨核细胞的百分比为 40%,是类白血病反应病例(13%)的 3 倍,但低于 CML-CP 病例(86%)。我们得出结论,对于 WBC 正常或轻度升高且绝对嗜碱性粒细胞的患者,应怀疑存在 pre-CML。骨髓检查通常可以根据小、低叶巨核细胞的百分比、微血管密度和形态特征将 pre-CML 与类白血病反应区分开来。