Department of Pathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Hematol Oncol Stem Cell Ther. 2021 Sep;14(3):231-239. doi: 10.1016/j.hemonc.2020.10.003. Epub 2020 Nov 13.
OBJECTIVE/BACKGROUND: B-cell neoplasms are clonal tumors of B cells at various stages of maturation, including diffuse large B-cell lymphoma (DLBCL), chronic lymphocytic lymphoma (CLL), Burkitt lymphoma (BL), lymphoplasmacytic lymphoma (LPL)/Waldenström's macroglobulinemia (WM), splenic marginal zone lymphoma (SMZL), nodal marginal zone lymphoma (NMZL), mantle cell lymphoma (MCL), follicular lymphoma (FL), and hairy cell leukemia (HCL). In this study, we analyzed the frequency of MYD88 L265P mutation and its correlation with clinico-hematological profile in mature B-cell neoplasms.
A total of 110 consecutive cases of B-cell neoplasms showing peripheral blood and/or bone marrow infiltration were included. MYD88 L265P mutation was detected by polymerase chain reaction amplification of exon 5 of MYD88 gene, followed by restriction fragment length polymorphism analysis.
Among the 110 cases, the major group was of CLL (54.5%, n = 60), followed by HCL. Other cases included MCL, LPL, DLBCL, SMZL, NMZL, FL, and BL. MYD88 L265P mutation was seen in 21 (19.1%) cases of B-cell neoplasm, whereas 89 (80.9%) cases were negative for MYD88 L265P mutation. It was most commonly seen in LPL/WM cases followed by HCL, SMZL, CLL, and MCL cases. No case of DLBCL, FL, and BL showed MYD88 L265P mutation. Statistically significant difference was seen for hemoglobin level in CLL cases, with MYD88 L265P mutated cases showing higher mean hemoglobin levels than MYD88 wild-type cases (p = .001). For other parameters, no statistically significant difference was noted between mutated and unmutated cases.
MYD88 L265P mutation is seen in various B-cell neoplasms; it is most commonly seen in LPL/WM cases but not specific for it.
目的/背景：B 细胞肿瘤是 B 细胞在不同成熟阶段的克隆性肿瘤，包括弥漫性大 B 细胞淋巴瘤（DLBCL）、慢性淋巴细胞白血病（CLL）、伯基特淋巴瘤（BL）、淋巴浆细胞淋巴瘤（LPL）/华氏巨球蛋白血症（WM）、脾脏边缘区淋巴瘤（SMZL）、结外边缘区淋巴瘤（NMZL）、套细胞淋巴瘤（MCL）、滤泡性淋巴瘤（FL）和毛细胞白血病（HCL）。在本研究中，我们分析了 MYD88 L265P 突变的频率及其与成熟 B 细胞肿瘤临床血液学特征的相关性。
共纳入 110 例表现为外周血和/或骨髓浸润的 B 细胞肿瘤连续病例。通过聚合酶链反应扩增 MYD88 基因外显子 5，然后进行限制性片段长度多态性分析，检测 MYD88 L265P 突变。
110 例病例中，以 CLL（54.5%，n=60）为主，其次是 HCL。其他病例包括 MCL、LPL、DLBCL、SMZL、NMZL、FL 和 BL。在 110 例 B 细胞肿瘤中，21 例（19.1%）存在 MYD88 L265P 突变，89 例（80.9%）为阴性。最常见于 LPL/WM 后接 HCL、SMZL、CLL 和 MCL 病例。未发现 DLBCL、FL 和 BL 病例存在 MYD88 L265P 突变。CLL 病例的血红蛋白水平有统计学显著差异，MYD88 L265P 突变病例的平均血红蛋白水平高于 MYD88 野生型病例（p=0.001）。对于其他参数，突变型与未突变型之间无统计学显著差异。
在各种 B 细胞肿瘤中均可见 MYD88 L265P 突变，最常见于 LPL/WM 病例，但并非特异性。
