Jain Hemani, Shetty Dhanlaxmi, Jain Hasmukh, Sengar Manju, Khattry Navin, Subramanian P G
Cancer Cytogenetic Department, Tata Memorial Centre, Advanced Centre for Treatment, Research & Education in Cancer (ACTREC), Sector-22, Room No. 6, CCE building, Kharghar, Navi Mumbai 410210, India.
Cancer Cytogenetic Department, Tata Memorial Centre, Advanced Centre for Treatment, Research & Education in Cancer (ACTREC), Sector-22, Room No. 6, CCE building, Kharghar, Navi Mumbai 410210, India.
Cancer Genet. 2018 Dec;228-229:17-20. doi: 10.1016/j.cancergen.2018.06.003. Epub 2018 Jul 19.
Hepatosplenic T-cell lymphoma (HSTL) is a rare subtype of peripheral T-cell lymphoma predominantly seen in young males. This disease presents with isolated hepatosplenomegaly and thrombocytopenia with sinusoidal infiltration of liver and sinusal infiltration of spleen. Immunophenotype shows positivity for CD3, CD7, TCRγδ or TCRαβ, CD38 and double negative for CD4, CD8, TdT, CD5, and CD56. Isochromosome 7q with or without trisomy 8 is seen in HSTL. Recently, ring chromosome 7 has also been identified as a new abnormality. We describe the clinical, immunophenotypic and cytogenetic analysis in a 24-year-old woman. We present an unusual case of TCRγδ positive T-cell lymphoma with aberrant expression of CD19, which is a B-cell lymphoid marker, with amplification of 7q region and subsequent formation of ring chromosome 7 and trisomy 8. This is the second case of HSTL, positive for CD19 and first case presenting with ring chromosome 7 and trisomy 8 in a CD19 positive HSTL which is a rare finding in T-cell lymphoma and needs to be explored further.
肝脾T细胞淋巴瘤(HSTL)是外周T细胞淋巴瘤的一种罕见亚型,主要见于年轻男性。该疾病表现为孤立性肝脾肿大和血小板减少,伴有肝脏的窦状隙浸润和脾脏的窦状隙浸润。免疫表型显示CD3、CD7、TCRγδ或TCRαβ、CD38呈阳性,而CD4、CD8、TdT、CD5和CD56呈双阴性。HSTL可见7号等臂染色体,伴有或不伴有8号染色体三体。最近,环状7号染色体也被确定为一种新的异常。我们描述了一名24岁女性的临床、免疫表型和细胞遗传学分析。我们报告了一例不寻常的TCRγδ阳性T细胞淋巴瘤病例,其异常表达B细胞淋巴标志物CD19,伴有7号染色体区域扩增,随后形成环状7号染色体和8号染色体三体。这是第二例CD19阳性的HSTL病例,也是第一例在CD19阳性的HSTL中出现环状7号染色体和8号染色体三体的病例,这在T细胞淋巴瘤中是罕见发现,需要进一步研究。