Shabir Muhammad Hamad, Din Hafeez Ud, Mahmood Rafia, Shehzad Umair Aslam
Department of Histopathology.
Department of Hematology, Armed Forces Institute of Pathology (AFIP), Punjab, Pakistan.
Appl Immunohistochem Mol Morphol. 2025 Jan 1;33(1):10-14. doi: 10.1097/PAI.0000000000001239. Epub 2024 Dec 5.
MYD88 L265P mutation is a gain-of-function driver mutation. It is observed in a significant proportion of Waldenstrom macroglobulinemia and activated B-cell subtype of diffuse large B-cell lymphoma (DLBCL; non-germinal center subtype). The incidence of this mutation in the subtypes of DLBCL has not yet been documented in the Pakistani population. This study aimed to ascertain the frequency and association of MYD88 L265P mutation within 2 subtypes of DLBCL, germinal center B-cell-like (GCB) and non-GCB B-cell lymphoma (non-GCB), in the local population. This cross-sectional study was conducted at the Armed Forces Institute of Pathology, Punjab, Pakistan. All newly diagnosed cases of DLBCL were included in the study. We analyzed 82 biopsy-proven cases of DLBCL (28 cases of GCB subtype and 54 cases of non-GCB subtype). DNA was extracted from formalin-fixed paraffin-embedded tissue blocks, and a conventional polymerase chain reaction was used to detect the MYD88 L265P mutation. The MYD88 L265P mutation was detected in 01 of 28 (3.6%) cases of the GCB subtype (95% CI: 0%-10%) and in 12 of 54 (22.2%) cases of the non-GCB subtype (95% CI: 11%-33%). Pearsos χ2 test revealed a statistically significant association of MYD88 L265P mutation with non-GCB subtype of DLBCL (P = 0.024). This association will assist in identifying a target population that may benefit from MYD88-specific treatment regimens. This may exponentially improve the outcome of patients with DLBCL harboring this mutation.
MYD88 L265P突变是一种功能获得性驱动突变。在相当一部分华氏巨球蛋白血症和弥漫性大B细胞淋巴瘤(DLBCL;非生发中心亚型)的活化B细胞亚型中可观察到该突变。在巴基斯坦人群中,DLBCL各亚型中这种突变的发生率尚未有文献记载。本研究旨在确定MYD88 L265P突变在当地人群DLBCL的两种亚型,即生发中心B细胞样(GCB)和非GCB B细胞淋巴瘤(非GCB)中的频率及相关性。这项横断面研究在巴基斯坦旁遮普省武装部队病理研究所进行。所有新诊断的DLBCL病例均纳入本研究。我们分析了82例经活检证实的DLBCL病例(28例GCB亚型和54例非GCB亚型)。从福尔马林固定石蜡包埋组织块中提取DNA,并采用常规聚合酶链反应检测MYD88 L265P突变。在28例(3.6%)GCB亚型病例中有1例(95%CI:0%-10%)检测到MYD88 L265P突变,在54例(22.2%)非GCB亚型病例中有12例(95%CI:11%-33%)检测到该突变。Pearson χ2检验显示MYD88 L265P突变与DLBCL的非GCB亚型存在统计学显著相关性(P = 0.024)。这种相关性将有助于识别可能从MYD88特异性治疗方案中获益的目标人群。这可能会成倍改善携带这种突变的DLBCL患者的治疗结果。