Health Sciences Department, Universidad Icesi, Cali, Colombia.
Haemato-Oncology Service, Internal Medicine Department, Fundación Valle del Lili, Cali, Colombia.
J Med Case Rep. 2023 Jan 26;17(1):39. doi: 10.1186/s13256-022-03722-y.
Myeloproliferative neoplasms are a group of diseases with diverse biological and clinical characteristics. As a provisional separate entity, myeloid/lymphoid neoplasms with eosinophilia and genetic rearrangement have been described, which may present an initial clinical behavior of myeloproliferation and be characterized by varied genetic rearrangements. One of these entities is associated with FGFR1 rearrangements, characterized by its low prevalence and few treatment options.
We present the case of a 53-year-old Mestizo male patient of Hispanic origin who initially presented weight loss and fatigue, with a complete blood count showing leukocytosis and eosinophilia, with an initial diagnosis of nonspecific myeloproliferative disorder. In a next-generation sequencing study, BCR::FGFR1 rearrangement was documented, a diagnosis of myeloid/lymphoid neoplasia with eosinophilia and BCR::FGFR1 rearrangement was made, and hydroxyurea therapy was initiated. Subsequently, transformation to cortical T-lymphoblastic leukemia/lymphoma and erythroid precursors was documented, requiring management with chemotherapy.
Myeloid/lymphoid neoplasms with eosinophilia and genetic rearrangements constitute a group of deeply heterogeneous diseases with variable clinical and diagnostic characteristics and whose treatment is not clearly defined.
骨髓增殖性肿瘤是一组具有不同生物学和临床特征的疾病。作为一个临时的独立实体，伴有嗜酸性粒细胞和基因重排的髓系/淋系肿瘤已经被描述，其可能表现出初始的骨髓增殖性疾病的临床行为，并以不同的基因重排为特征。其中一种与 FGFR1 重排相关，其特征是患病率低，治疗选择有限。
我们介绍了一位 53 岁的梅斯蒂索男性患者，其最初表现为体重减轻和疲劳，全血细胞计数显示白细胞增多和嗜酸性粒细胞增多，最初诊断为非特异性骨髓增殖性疾病。在下一代测序研究中，发现了 BCR::FGFR1 重排，诊断为伴有嗜酸性粒细胞和 BCR::FGFR1 重排的髓系/淋系肿瘤，并开始使用羟基脲治疗。随后，记录到皮质 T 淋巴母细胞白血病/淋巴瘤和红系前体细胞的转化，需要进行化疗治疗。
伴有嗜酸性粒细胞和基因重排的髓系/淋系肿瘤是一组具有不同临床和诊断特征的高度异质性疾病，其治疗方法尚未明确。
