Department of Leukemia, The University of Texas MD Anderson Cancer Center, Unit 428, 1515 Holcombe Blvd., Houston, TX, 77030, USA.
Int J Hematol. 2009 Nov;90(4):522-525. doi: 10.1007/s12185-009-0411-5. Epub 2009 Aug 29.
Cytogenetic abnormalities in patients with essential thrombocythemia (ET) are infrequent. Their role in survival of patients and disease transformation is not extensively studied. We describe cytogenetic abnormalities in 172 patients with ET at a single institution. At presentation nine (5.2%) patients had cytogenetic abnormality and three (1.7%) additional patients acquired them during follow-up. Survival of patients with cytogenetic changes at presentation did not differ when compared to the patients with normal karyotype. The more common were abnormalities of chromosome 9 (n = 4), 20 (n = 2), 5 (n = 2), and complex abnormalities (n = 2). Forty-one patients (23.8%) had additional cytogenetic tests performed for monitoring purposes during follow-up. Five patients (2.9%) with normal karyotype transformed to myelofibrosis (MF) without developing new cytogenetic changes at transformation. Two patients (1.2%) with normal karyotypes at presentation transformed to myelodysplastic syndrome and acute myeloid leukemia, respectively. Both acquired complex cytogenetic changes at the time of transformation. There is no rationale for repeating cytogenetic tests in ET patients on follow up, unless blood cell count changes suggest possible transformation.
原发性血小板增多症（ET）患者的细胞遗传学异常并不常见。它们在患者生存和疾病转化中的作用尚未得到广泛研究。我们在一家机构描述了 172 例 ET 患者的细胞遗传学异常。在就诊时，有 9 例（5.2%）患者存在细胞遗传学异常，3 例（1.7%）患者在随访中获得了这些异常。与核型正常的患者相比，有细胞遗传学改变的患者的生存没有差异。更常见的是染色体 9（n=4）、20（n=2）、5（n=2）和复杂异常（n=2）的异常。41 例（23.8%）患者在随访期间为监测目的进行了额外的细胞遗传学检测。5 例（2.9%）核型正常的患者在未发生新的细胞遗传学改变的情况下转化为骨髓纤维化（MF）。2 例（1.2%）核型正常的患者分别转化为骨髓增生异常综合征和急性髓系白血病，均在转化时获得了复杂的细胞遗传学改变。除非血细胞计数变化提示可能发生转化，否则在 ET 患者的随访中没有理由重复细胞遗传学检测。
