Department of Hematology, The Affiliated Hospital of Qingdao University, Qingdao, People's Republic of China.
Department of Stem Cell Transplantation, Blood Diseases Hospital & Institute of Hematology, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, People's Republic of China.
Hematology. 2022 Dec;27(1):1010-1018. doi: 10.1080/16078454.2022.2117206.
Since the publication of the third edition, the WHO classification of tumors of hematopoietic and lymphoid disorders has introduced the disease entity of 'myeloid/lymphoid neoplasms with eosinophilia and rearrangement', in which the most common chromosomal abnormality is t(5;12) (q32;p13.2), and this abnormality generates the fusion gene. However, there have been patients with hematologic features and chromosomal abnormalities that are extremely similar to those carrying fusion. These rare disorders harbor fusion, and only sporadic cases have been reported at present.
We report a patient with chronic eosinophilic leukemia (CEL) carrying chromosome translocation t(5;12)(q32;p13.2), and we present the clinical features. In addition, we conducted a literature review to collect all reported cases and summarized the genetic and clinical profiling as well as the treatments and outcomes.
In addition to our patient, a total of 19 cases have been previously reported, including 6 variants of and 3 reciprocals. We identified a novel variant of the transcript in our patient, and the breakpoint was flanked by exon 2 of and exon 2 of . The cellular morphology features consisted of myeloproliferative neoplasm (MPN); myelodysplastic/myeloproliferative neoplasm (MDS/MPN), specifically CEL; and acute myelocytic leukemia (AML). The treatments and outcomes varied greatly depending on the type of disease, although tyrosine kinase inhibitors (TKIs) were not effective.
In contrast to neoplasms with fusion, myeloid neoplasms with fusion have unique characteristics.
自第三版发布以来，世界卫生组织（WHO）血液和淋巴系统肿瘤分类引入了“伴嗜酸性粒细胞增多和重排的髓系/淋系肿瘤”这一疾病实体，其中最常见的染色体异常为 t（5；12）（q32；p13.2），该异常会产生融合基因。然而，有一些血液学特征和染色体异常与携带融合基因的疾病极其相似的患者。这些罕见疾病携带有融合基因，目前仅零星报道过散发病例。
我们报告了一例携带染色体易位 t（5；12）（q32；p13.2）的慢性嗜酸性粒细胞白血病（CEL）患者，并介绍了其临床特征。此外，我们进行了文献复习，收集了所有报道的病例，并对其遗传和临床特征以及治疗和结局进行了总结。
除了我们的患者外，之前共报道了 19 例，其中包括 6 种 融合和 3 种反向融合。我们在患者中发现了一种新的 融合转录本变体，其断点位于 基因的外显子 2 和 基因的外显子 2 之间。细胞形态学特征包括骨髓增殖性肿瘤（MPN）；骨髓增生异常/骨髓增殖性肿瘤（MDS/MPN），具体为 CEL；以及急性髓细胞性白血病（AML）。由于疾病类型不同，治疗和结局差异很大，尽管酪氨酸激酶抑制剂（TKI）无效。
与携带 融合基因的肿瘤不同，携带有融合基因的髓系肿瘤具有独特的特征。
