Jajosky Audrey N, Lichtman Marshall A
Department of Pathology and Laboratory Medicine and the James P. Wilmot Cancer Institute, University of Rochester Medical Center, Rochester, NY.
Department of Medicine and the James P. Wilmot Cancer Institute, University of Rochester Medical Center, Rochester, NY.
Haematologica. 2025 Sep 1;110(9):1912-1920. doi: 10.3324/haematol.2025.287792. Epub 2025 May 15.
:ABL1-positive chronic myelogenous leukemia (CML) presents with a typical phenotype in over 95% of cases. These phenotypical cases are associated with a p210 oncoprotein (M-bcr genotype). In these cases, the consideration of CML is high on the list of differential diagnoses and appropriate genetic studies to confirm the BCR::ABL1 oncogene are de rigueur. The elevated white cell count, dominant granulocytes, myeloid immaturity and the absent to low blast concentration in the blood, the mild anemia, the normal platelet count or mild thrombocytosis and the frequency of basophilia usually point to the tentative diagnosis of CML or CML is included in the differential diagnosis without ambiguity. In a very small fraction of cases, the diagnosis of BCR::ABL1-positive CML is less evident. These syndromes include (i) BCR::ABL1-positive thrombocythemia, (ii) so-called neutrophilic BCR::ABL1-positive CML and (iii) the m-bcr (p190BCR-ABL1) variant of CML, often with an absolute and relative monocytosis. In these uncommon forms, there are often misleading blood cell counts. An interesting biological feature is the striking predominance of females in these three atypical presentations. In the fourth variant, (iv) eosinophilic predominant CML, the five reported cases have all been in males. We also consider the very rare phenomenon of (v) smoldering CML (synonyms pre-CML and aleukemic CML), which also has a female predominance. The misdiagnosis or delayed diagnosis of these atypical syndromes is consequential because of the beneficial response to tyrosine kinase inhibitors in affected patients.
:ABL1 阳性慢性髓性白血病（CML）在超过95%的病例中呈现典型表型。这些表型病例与一种p210癌蛋白（M-bcr基因型）相关。在这些病例中，CML在鉴别诊断清单上的考虑优先级很高，进行适当的基因研究以确认BCR::ABL1癌基因是必不可少的。白细胞计数升高、粒细胞占优势、髓系不成熟以及血液中原始细胞浓度缺乏或较低、轻度贫血、血小板计数正常或轻度血小板增多以及嗜碱性粒细胞增多的频率通常指向CML的初步诊断，或者CML被明确纳入鉴别诊断。在极少数情况下，BCR::ABL1阳性CML的诊断不太明显。这些综合征包括：（i）BCR::ABL1阳性血小板增多症，（ii）所谓的嗜中性BCR::ABL1阳性CML，以及（iii）CML的m-bcr（p190BCR-ABL1）变体，通常伴有绝对和相对单核细胞增多。在这些不常见的形式中，血细胞计数常常具有误导性。一个有趣的生物学特征是在这三种非典型表现中女性明显占优势。在第四种变体（iv）嗜酸性粒细胞为主的CML中，报告的5例病例均为男性。我们还考虑了非常罕见的（v）隐匿性CML现象（同义词：CML前期和无白血病性CML），其同样以女性为主。由于受影响患者对酪氨酸激酶抑制剂有良好反应，这些非典型综合征的误诊或延迟诊断后果严重。
