A Survey of Somatic Mutations in 41 Genes in a Cohort of T-Cell Lymphomas Identifies Frequent Mutations in Genes Involved in Epiqenetic Modification

摘要

Mature T-cell lymphomas are rare neoplasms that, together with NK-cell neoplasms, comprise approximately 12% of all non-Hodgkin lymphomas. Among the mature T-cell lymphomas, peripheral T-cell lymphoma not otherwise specified (PTCL-NOS), and angioimmunoblastic T-cell lymphoma (ATTL) account for the majority of cases.2"4 The diagnosis of T-cell lymphomas is challenging for a variety of reasons, including the lack of immunophenotypic techniques to demonstrate evidence of clonality and a relative lack of markers that are specific for neoplastic T cells versus normal reactive T cells. The ability to demonstrate clonal T-cell gene rearrangements represents a useful diagnostic aid in the evaluation of T-cell proliferations, but for technical and biological reasons, this assay is not entirely specific for T-cell neoplasia.