TET2 as a diagnostic and pronostic marker in hematopoietic neoplasms

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.

主权项

1. A method of treating a subject having a myeloid tumour or a lymphoid tumour, wherein the tumour comprises:
cells having a mutated TET2 gene having a nonsense mutation that encodes R1404Stop, Q321Stop, S354Stop, Q557Stop, or Y1724Stop in the resulting TET2 protein expressed by the tumour; cells having a mutated TET2 gene having a missense mutation that encodes S1898F, H1868R, G1869W, or L1872P in the resulting TET2 protein expressed by the tumour; or cells having a mutated TET2 gene encoding a frameshift at Q1834 or L1889 in the resulting TET2 protein expressed by the tumour; the method comprising:
detecting in a biological sample from the subject the presence of the mutated TET2 gene and/or the resulting TET2 protein expressed by the tumour; andadministering to the subject a therapeutically efficient amount of a hypomethylating agent.