Sugimoto Kei-Ji, Shimada Asami, Wakabayashi Mutsumi, Sekiguchi Yasunobu, Izumi Hiroshi, Ota Yasunori, Komatsu Norio, Noguchi Masaaki
Department of Hematology, Juntendo University Urayasu Hospital Urayasu, Japan.
Department of Pathology, Juntendo University Urayasu Hospital Urayasu, Japan.
Int J Clin Exp Pathol. 2014 Apr 15;7(5):2615-23. eCollection 2014.
A 22-year-old man sought medical advice for a swelling in the right side of the neck in December 2011. Histopathological examination of the lymph node biopsy initially suggested reactive lymphadenitis, on account of the only sparse presence of tumor cells. Bone marrow examination was performed in February 2012 revealed findings consistent with a diagnosis of T-cell lymphoblastic leukemia/lymphoma (T-LBL), and the patient was begun on remission induction therapy. The bone marrow showed an immature thymocytic pattern: cytoplasmic CD3+, surface CD3-, CD5+, CD4-, and CD8-. Re-assessment of the lymph node specimens revealed the same phenotype of the cells in the lymph node as that of the blasts in the bone marrow. In addition, a chromosomal aberration t(7;14)(p15;q32) was noted. The lymph node biopsy specimens were examined by paraffin-embedded tissue section-fluorescence in situ hybridization (PS-FISH), which revealed a fusion signal of T-cell receptor (TCR)γ gene (7p15) with T-cell leukemia/lymphoma 1A (TCL1A) gene (14q32.13). There have been at least 10 reported cases of T-LBL with t(7;14)(p15;q32), including the present case. However, this is the first reported case in which TCRγ-TCL1A translocation was confirmed by FISH.
一名22岁男性于2011年12月因右侧颈部肿胀寻求医疗建议。淋巴结活检的组织病理学检查最初提示反应性淋巴结炎，因为肿瘤细胞仅稀疏存在。2012年2月进行的骨髓检查结果与T细胞淋巴母细胞白血病/淋巴瘤（T-LBL）的诊断一致，患者开始接受缓解诱导治疗。骨髓显示出未成熟胸腺细胞模式：细胞质CD3+、表面CD3-、CD5+、CD4-和CD8-。对淋巴结标本的重新评估显示，淋巴结中的细胞与骨髓中的原始细胞具有相同的表型。此外，还发现了染色体畸变t(7;14)(p15;q32)。通过石蜡包埋组织切片荧光原位杂交（PS-FISH）对淋巴结活检标本进行检查，结果显示T细胞受体（TCR）γ基因（7p15）与T细胞白血病/淋巴瘤1A（TCL1A）基因（14q32.13）出现融合信号。至少有10例报告的T-LBL病例伴有t(7;14)(p15;q32)，包括本病例。然而，这是第一例通过FISH证实TCRγ-TCL1A易位的报告病例。
