Wang Ying, Xiao Yi, Meng Xiangyu, Zhang Heng, Li Qinlu, Meng Fankai, Huang Lifang, Li Chunrui, Zhou Jianfeng
Department of Hematology, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology, 1095 Jie-Fang Avenue, Wuhan 430030, Hubei, PR China.
Center for Evidence-based and Translational Medicine, Zhongnan Hospital of Wuhan University, Wuhan 430030, Hubei, PR China.
Exp Mol Pathol. 2017 Feb;102(1):146-155. doi: 10.1016/j.yexmp.2017.01.007. Epub 2017 Jan 11.
Pathological analysis is the cornerstone for diagnosing malignant lymphoma. Status of cytogenetic abnormalities is frequently left unexamined if no evidence of malignancy is found in pathological analysis. In this study, we presented 3 cases in which clonal cytogenetic abnormalities were detected but morphological alterations of the same tissue did not support malignant non Hodgkin lymphoma at the first lymph node biopsy. Case 1 is a 55-year-old female with lymphadenopathy neoplastic process confirmed by flow cytometry and polymerase chain reaction (PCR). Chromosome analysis revealed 47,XX,t(3;22)(q27;q11),+del(9)(p12)[16]/46,XX[4]. The pathological analysis of subsequent lymph node biopsy indicated diffuse large B-cell lymphoma (DLBCL). Case 2, a 74-year-old female, for whom the pathological analysis, molecular studies and flow cytometric analysis of the first lymph node biopsy found no evidence of clonal cell. Cytogenetic analysis demonstrated a terminal deletion of chromosome 7 and 1, and the patient received a second lymph node biopsy and splenectomy. A pathological diagnosis of splenic marginal zone lymphoma (SMZL) was made. In Case 3 who was a 66-year-old female with right cervical and axillary lymph node enlargement. Cytogenetic analysis showed clonal karyotypic abnormalities: 48,XX, t(14;18)(q32;q21) [13]/46, XY [7]. The diagnosis of follicular lymphoma was rendered by the second biopsy of axillary lymph node according to the analysis of morphology and immunohistochemistry. We propose that clonal cytogenetic abnormalities may be a high potential risk for developing non-Hodgkin lymphomas. Follow-up and rebiopsy must be performed in patients who are cytogenetically abnormal but morphologically benign.
病理分析是诊断恶性淋巴瘤的基石。如果在病理分析中未发现恶性证据，细胞遗传学异常情况通常不会被检查。在本研究中，我们呈现了3例病例，这些病例在首次淋巴结活检时检测到克隆性细胞遗传学异常，但同一组织的形态学改变并不支持恶性非霍奇金淋巴瘤。病例1是一名55岁女性，其淋巴结病变的肿瘤过程经流式细胞术和聚合酶链反应（PCR）证实。染色体分析显示为47,XX,t(3;22)(q27;q11),+del(9)(p12)[16]/46,XX[4]。后续淋巴结活检的病理分析显示为弥漫性大B细胞淋巴瘤（DLBCL）。病例2是一名74岁女性，其首次淋巴结活检的病理分析、分子研究和流式细胞术分析均未发现克隆性细胞的证据。细胞遗传学分析显示染色体7和1末端缺失，该患者接受了第二次淋巴结活检和脾切除术。病理诊断为脾边缘区淋巴瘤（SMZL）。病例3是一名66岁女性，有右侧颈部和腋窝淋巴结肿大。细胞遗传学分析显示克隆性核型异常：48,XX, t(14;18)(q32;q21) [13]/46, XY [7]。根据腋窝淋巴结的形态学和免疫组化分析，第二次活检诊断为滤泡性淋巴瘤。我们提出克隆性细胞遗传学异常可能是非霍奇金淋巴瘤发生的高潜在风险。对于细胞遗传学异常但形态学为良性的患者，必须进行随访和再次活检。
