Bilhou-Nabéra Chrystèle, Bidet Audrey, Eclache Virginie, Lippert Eric, Mozziconacci Marie-Joëlle
Laboratoire d'hématologie, Unité de cytogénétique onco-hématologique, Hôpital Saint-Antoine, AP-HP, Paris, France.
Laboratoire d'hématologie-cytogénétique, Hôpital Haut-Lévêque, CHU de Bordeaux, Pessac, France.
Ann Biol Clin (Paris). 2016 Oct 1;74(5):517-523. doi: 10.1684/abc.2016.1153.
The recent years have witnessed tremendous progress in the molecular characterization of Philadelphia-negative myeloproliferative neoplasms (MPN). Beside a better understanding of pathophysiology, these abnormalities often constitute very useful diagnostic markers in diseases where exclusion of reactive states used to be the strongest argument. However, conventional and molecular cytogenetics keep a major interest in MPN, either as a second line exploration, in cases where no molecular marker is available, for differential diagnosis or as a proof of clonality or in first line for cases with hyperleukocytosis, for differential diagnosis (CML), to evidence druggable targets (ABL1, RET, PDGFR…) or as a prognosis marker. In this article, we will review the interest of cytogenetic techniques in myeloproliferative neoplasms.
近年来,费城染色体阴性骨髓增殖性肿瘤(MPN)的分子特征研究取得了巨大进展。除了对病理生理学有了更深入的了解外,这些异常在过去常以排除反应性状态作为最有力论据的疾病中,往往构成非常有用的诊断标志物。然而,传统细胞遗传学和分子细胞遗传学在MPN中仍具有重要意义,要么作为二线检查,用于没有分子标志物的病例进行鉴别诊断,或作为克隆性的证据;要么作为一线检查,用于高白细胞血症病例进行鉴别诊断(慢性粒细胞白血病),以发现可靶向治疗的靶点(ABL1、RET、PDGFR…)或作为预后标志物。在本文中,我们将综述细胞遗传学技术在骨髓增殖性肿瘤中的应用价值。