Crisan D, Mattson J C, O'Malley B A, Schulz R W, Wilner F
Department of Clinical Pathology, William Beaumont Hospital, Royal Oak, MI 48073-6769, USA.
Cancer Detect Prev. 1996;20(4):263-9.
The bcr gene rearrangement resulting from the Philadelphia translocation is diagnostic of chronic myelogenous leukemia (CML) and is considered the hallmark of this myeloproliferative disorder (MPD) at the molecular level. The other MPDs, essential thrombocythemia (ET), polycythemia vera (PV), agnogenic myeloid metaplasia (AMM), and unclassified MPD, share morphologic features with CML, making the diagnosis difficult in cases with considerable morphologic overlap. In such cases, molecular analysis becomes essential for accurate diagnosis. We report results of bcr analysis by Southern hybridization in 37 patients with MPDs other than CML: ET (20 cases), PV (seven cases). unclassified MPD (nine cases), as well as in one case of chronic myelomonocytic leukemia (CMML). bcr negativity ruled out CML in 36 cases, confirming the morphologic diagnosis. In one case diagnosed as ET. bcr gene rearrangement was diagnostic of CML. The correct diagnosis made possible a different therapeutic approach in this young patient and resulted in cure after allogeneic bone marrow transplantation. The existence of such cases makes the use of molecular analysis essential in the evaluation of MPDs, even when the morphologic features do not unequivocally support the diagnosis of CML, as in this patient.
由费城染色体易位导致的bcr基因重排可诊断慢性粒细胞白血病（CML），并被认为是这种骨髓增殖性疾病（MPD）在分子水平的标志。其他MPD，即原发性血小板增多症（ET）、真性红细胞增多症（PV）、特发性骨髓化生（AMM）以及未分类的MPD，与CML具有共同的形态学特征，这使得在形态学有相当程度重叠的病例中诊断变得困难。在这种情况下，分子分析对于准确诊断就变得至关重要。我们报告了通过Southern杂交对37例非CML的MPD患者进行bcr分析的结果：ET（20例）、PV（7例）、未分类的MPD（9例），以及1例慢性粒单核细胞白血病（CMML）。bcr阴性在36例中排除了CML，证实了形态学诊断。在1例诊断为ET的病例中，bcr基因重排诊断为CML。正确的诊断使得对这位年轻患者采取不同的治疗方法成为可能，并在异基因骨髓移植后实现了治愈。这类病例的存在使得即使在形态学特征不能明确支持CML诊断时，如本病例，在评估MPD时使用分子分析也必不可少。
