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TET2 as a new diagnostic and pronostic marker in hematopoietic neoplasms

机译:TET2作为造血肿瘤的新诊断和代名词标记

摘要

The present invention concerns an in vitro method for diagnosing a myeloid tumor or a lymphoid tumor in a subject, which comprises the step of analyzing a biological sample from said subject by (i) detecting the presence of a mutation in the Ten Eleven Translocation protein family member 2 gene (TET2) coding for the polypeptide having the sequence SEQ ID NO:2, and/or (ii) analyzing the expression of the TET2 gene; wherein the detection of such a TET2 mutation, of the absence of expression of TET2 or of the expression of a truncated TET2 is indicative of a subject developing or predisposed to develop a myeloid tumor or a lymphoid tumor.
机译:本发明涉及一种用于诊断受试者中的髓样肿瘤或淋巴样肿瘤的体外方法,该方法包括以下步骤:通过(i)检测十一个十一易位蛋白家族中突变的存在来分析来自所述受试者的生物学样品。编码具有序列SEQ ID NO:2的多肽的成员2基因(TET2),和/或(ii)分析TET2基因的表达;其中检测到这样的TET2突变,不存在TET2的表达或不被截短的TET2的表达指示受试者正在发展或倾向于发展髓样肿瘤或淋巴样肿瘤。

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