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Post-Essential Thrombocythemia Myelofibrosis and Multiple Isodicentric Y Chromosomes: A Unique Case among a Rare Association
Cytogenetic and Genome Research ( IF 1.7 ) Pub Date : 2020-01-01 , DOI: 10.1159/000505844
Eric Dahlen , Sinziana I. Sarghi , Florian Renosi , Christophe Ferrand , Marie-Agnes Collonge-Rame , Paul Kuentz

Multiple isodicentric Y chromosomes [idic(Y)] is a rare cytogenetic abnormality, most exclusively described in constitutional karyotypes. Only recently has this entity been reported in hematologic neoplasms such as myeloid disorders, albeit these cases remain very scarce. The possible involvement of increasing copies of potential proto-oncogenes located on the multiple idic(Y) led to consider one of them, CRLF2, as a target for kinase inhibitors. We report here, to our knowledge, the first case of multiple idic(Y) in a patient with myelofibrosis secondary to essential thrombocythemia. The patient received ruxolitinib therapy with initial good clinical response.

中文翻译:

原发性血小板增多症后骨髓纤维化和多个等中心 Y 染色体:罕见关联中的一个独特案例

多条等双着丝粒 Y 染色体 [idic(Y)] 是一种罕见的细胞遗传学异常,最常见于结构性核型。直到最近才在血液系统肿瘤(如骨髓疾病)中报道了这种实体,尽管这些病例仍然非常稀少。位于多个 idic(Y) 上的潜在原癌基因拷贝的增加可能涉及其中之一,CRLF2,作为激酶抑制剂的靶点。据我们所知,我们在这里报告了第一例继发于原发性血小板增多症的骨髓纤维化患者的多发性 idic(Y) 病例。患者接受了鲁索替尼治疗,初始临床反应良好。
更新日期:2020-01-01
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