一名先患EBV阳性大B细胞淋巴瘤，后患TET2突变型血管免疫母细胞性T细胞淋巴瘤和慢性粒单核细胞白血病的患者对5-氮杂胞苷的反应。

Response to 5-azacytidine in a patient with TET2-mutated angioimmunoblastic T-cell lymphoma and chronic myelomonocytic leukaemia preceded by an EBV-positive large B-cell lymphoma.

作者信息

Saillard Colombe, Guermouche Helene, Derrieux Coralie, Bruneau Julie, Frenzel Laurent, Couronne Lucile, Asnafi Vahid, Macintyre Elizabeth, Trinquand Amélie, Lhermitte Ludovic, Molina Thierry, Suarez Felipe, Lemonnier Francois, Kosmider Olivier, Delarue Richard, Hermine Olivier, Cheminant Morgane

机构信息

Clinical Hematology, IMAGINE Institute, Paris Descartes-Sorbonne Paris Cité University, Necker Hospital, AP-HP, Paris, France.

Biological Hematology, Paris Descartes-Sorbonne Paris Cité University, Cochin Hospital, AP-HP, Paris, France.

出版信息

Hematol Oncol. 2017 Dec;35(4):864-868. doi: 10.1002/hon.2319. Epub 2016 Jun 29.

DOI:10.1002/hon.2319

PMID:27353473

Abstract

We report the case of a patient with a history of Epstein-Barr virus-positive large B-cell lymphoma, who relapsed with an angioimmunoblastic T-cell lymphoma (AITL) associated with a chronic myelomonocytic leukaemia (CMML). We performed targeted next-generation sequencing on CMML and AITL DNA, which revealed mutations of TET2, DNMT3A, SRSF2, NRAS and IDH1, thus confirming that the spectrum of AITL mutations share similarities with myeloid disorders. The frequencies of TET2/DNMT3A and SRSF2 variants could support the hypothesis that TET2/DNMT3A mutations occurred in an early progenitor cell, which later progressed to both the AITL and CMML clones. Treatment with 5-azacytidine led to the complete remission of both diseases. Thus, targeting DNA methylation abnormalities in AITL may be an alternative strategy to chemotherapy. Copyright © 2016 John Wiley & Sons, Ltd.

摘要

我们报告了一例有EB病毒阳性大B细胞淋巴瘤病史的患者，其复发为血管免疫母细胞性T细胞淋巴瘤（AITL），并伴有慢性粒单核细胞白血病（CMML）。我们对CMML和AITL的DNA进行了靶向二代测序，结果显示TET2、DNMT3A、SRSF2、NRAS和IDH1发生了突变，从而证实AITL的突变谱与髓系疾病有相似之处。TET2/DNMT3A和SRSF2变异的频率可能支持这样的假说，即TET2/DNMT3A突变发生在早期祖细胞中，该祖细胞随后发展为AITL和CMML克隆。用5-氮杂胞苷治疗导致两种疾病完全缓解。因此，针对AITL中的DNA甲基化异常可能是化疗的替代策略。版权所有© 2016约翰·威利父子有限公司。