Hematopathology Service, Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas 77030, USA.
Hum Pathol. 2018 Apr;74:5-16. doi: 10.1016/j.humpath.2018.01.005. Epub 2018 Jan 11.
Hepatosplenic T-cell lymphoma (HSTCL) is a rare and clinically aggressive type of T-cell lymphoma that arises most often in adolescents and young adults. Patients with HSTCL commonly present with B-symptoms and cytopenias, which may suggest a diagnosis of acute leukemia initially. Patients present with extranodal disease involving the spleen, liver and bone marrow; lymphadenopathy is usually absent. The lymphoma cells can show a spectrum of cell sizes and are of T-cell lineage, often negative for CD4 and CD8 and positive for T-cell receptor γδ or, less often, αβ. Recent studies have identified gene mutations in oncogenic pathways that are likely involved in pathogenesis and may be targets for therapy. Mutations in STAT3 or STAT5B lead to activation of the JAK/STAT pathway, and mutations involving SETD2, IN080 and ARID1 are involved in chromatin modification. Currently, there is no consensus standard of care for HSTCL patients, although several studies support a role for allogeneic hematopoietic stem cell transplant. Although patients with HSTCL are best treated in the context of clinical trials, the rarity of these neoplasms likely necessitates a multi-institutional approach. In this review, we focus on the clinicopathologic and genetic characteristics of HSTCL. We also discuss the differential diagnosis and therapeutic approaches.
肝脾 T 细胞淋巴瘤(HSTCL)是一种罕见且临床侵袭性强的 T 细胞淋巴瘤,多发生于青少年和年轻成人。HSTCL 患者常出现 B 症状和血细胞减少症,最初可能提示急性白血病的诊断。患者表现为累及脾脏、肝脏和骨髓的结外疾病;通常无淋巴结病。淋巴瘤细胞可呈现一系列细胞大小,并属于 T 细胞谱系,通常 CD4 和 CD8 阴性,T 细胞受体 γδ 阳性,或较少见的 αβ 阳性。最近的研究确定了致癌途径中的基因突变,这些突变可能与发病机制有关,并且可能成为治疗的靶点。STAT3 或 STAT5B 的突变导致 JAK/STAT 途径的激活,而涉及 SETD2、IN080 和 ARID1 的突变则参与染色质修饰。目前,尽管有几项研究支持异基因造血干细胞移植的作用,但对于 HSTCL 患者,尚无共识的治疗标准。尽管 HSTCL 患者最好在临床试验的背景下进行治疗,但这些肿瘤的罕见性可能需要采用多机构方法。在这篇综述中,我们重点介绍了 HSTCL 的临床病理和遗传学特征。我们还讨论了鉴别诊断和治疗方法。