Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, 200032, China.
Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 200032, China.
Virchows Arch. 2024 Nov;485(5):889-900. doi: 10.1007/s00428-024-03941-2. Epub 2024 Oct 8.
Pediatric-type follicular lymphoma (PTFL) and pediatric nodal marginal zone lymphoma (PNMZL) are two rare indolent B-cell lymphomas with overlapping features. Recently, cases showing hybridizing features of PTFL and PNMZL have been reported. Herein, we retrospectively analyzed the clinicopathologic features of 59 patients, including 39 with PTFL, 5 with PNMZL, and 15 with mixed-type tumors (MTT). And next-generation sequencing analysis was performed on 3 PTFL, 2 PNMZL, and 2 MTT cases. In addition, previously published mutational data of 96 PTFLs, 25 PNMZLs, and 46 MTTs were also analyzed. There were 52 male and 7 female patients, with a median age of 17 years. Most patients (96.6%) had lymph node involvement in the head and neck region and were diagnosed with stage I disease. Among the 50 patients (85%) with telephone follow-up, 44 (88%) adopted a watch-and-wait strategy after surgical resection of the lesions. Only one PTFL patient experienced a relapse 6 months after diagnosis. Microscopically, not only the MTT cases showed a composite form of enlarged follicles and interfollicular lymphocytic proliferation producing a progressively transformed germinal center (PTGC) pattern, but also focal follicles with a PTGC-like pattern were observed in PTFL cases. Genetically, the most frequently mutated genes were TNFRSF14 (in 3 PTFLs and 2 MTTs), MAP2K1 (in 2 PTFLs, 1 PNMZL and 1 MTT), and IRF8 (in 2 MTTs and 1 PNMZL). Based on the similar or overlapping clinical, pathologic, and genetic features, PTFL and PNMZL are likely to represent two different histologic patterns of the same disease.
儿童型滤泡淋巴瘤（PTFL）和儿童结外边缘区淋巴瘤（PNMZL）是两种罕见的惰性 B 细胞淋巴瘤，具有重叠的特征。最近，有报道称存在 PTFL 和 PNMZL 杂交特征的病例。在此，我们回顾性分析了 59 例患者的临床病理特征，包括 39 例 PTFL、5 例 PNMZL 和 15 例混合性肿瘤（MTT）。对 3 例 PTFL、2 例 PNMZL 和 2 例 MTT 病例进行了下一代测序分析。此外，还分析了 96 例 PTFL、25 例 PNMZL 和 46 例 MTT 的先前发表的突变数据。患者为 52 例男性和 7 例女性，中位年龄为 17 岁。大多数患者（96.6%）有头颈部淋巴结受累，诊断为Ⅰ期疾病。在 50 例（85%）有电话随访的患者中，44 例（88%）在病变切除后采用观察等待策略。仅有 1 例 PTFL 患者在诊断后 6 个月复发。显微镜下，不仅 MTT 病例显示出滤泡和滤泡间淋巴细胞增殖的复合形式，产生进行性转化生发中心（PTGC）模式，而且在 PTFL 病例中也观察到局灶性滤泡具有 PTGC 样模式。遗传上，最常突变的基因是 TNFRSF14（在 3 例 PTFL 和 2 例 MTT 中）、MAP2K1（在 2 例 PTFL、1 例 PNMZL 和 1 例 MTT 中）和 IRF8（在 2 例 MTT 和 1 例 PNMZL 中）。基于相似或重叠的临床、病理和遗传特征，PTFL 和 PNMZL 可能代表同一种疾病的两种不同组织学模式。
