Trimukhe Akshay, Mridha Asit Ranjan, Yadav Rahul, Mishra Deepika, Rasla P C, Surya Varun
Department of Oral Pathology and Microbiology, Center for Dental Education and Research, All India Institute of Medical Sciences, New Delhi, India.
Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
Oral Oncol. 2025 Aug;167:107452. doi: 10.1016/j.oraloncology.2025.107452. Epub 2025 Jun 27.
Anaplastic large cell lymphoma (ALCL), ALK-positive, is a rare subtype of peripheral T-cell lymphoma, most commonly affecting lymph nodes and soft tissues in children and young adults. Primary bone involvement is uncommon, and mandibular localization is exceptionally rare. We present the first reported case of ALK-positive ALCL presenting as a primary bone lymphoma of the mandible in a 12-year-old male. The patient reported with a diffuse, progressively enlarging swelling on the right side of the face. Imaging revealed an ill-defined, FDG-avid (SUV max 13.5) destructive lesion involving the right mandibular body, with no evidence of disease elsewhere. Histopathological examination showed a high-grade malignant neoplasm composed of cohesive sheets of large atypical cells with marked cytoplasmic clearing, nuclear pleomorphism, prominent nucleoli, and atypical mitoses, accompanied by bone destruction and a mixed inflammatory infiltrate. Due to the undifferentiated morphology, an extensive immunohistochemical panel was applied. The tumor was negative for epithelial, B-cell, plasma cell, melanocytic, and myogenic markers, but positive for CD45, CD3, CD30, ALK, and EMA, confirming a diagnosis of ALK-positive ALCL of T-cell lineage. Bone marrow aspiration and biopsy showed no evidence of infiltration, establishing the mandible as the primary site. The patient was treated with Brentuximab Vedotin in combination with the R-CHOP regimen and showed an excellent clinical response with gradual resolution of swelling. This case highlights the diagnostic complexity of undifferentiated mandibular tumors in pediatric patients and emphasizes the importance of integrating morphology, immunophenotyping, and systemic evaluation to identify rare presentations of peripheral T-cell lymphomas.
间变性大细胞淋巴瘤(ALK阳性)是外周T细胞淋巴瘤的一种罕见亚型,最常见于儿童和青年的淋巴结及软组织。原发性骨受累并不常见,而下颌骨定位极为罕见。我们报告了首例12岁男性患者,其ALK阳性间变性大细胞淋巴瘤表现为下颌骨原发性骨淋巴瘤。患者因右侧面部弥漫性、进行性肿大前来就诊。影像学检查显示右侧下颌骨体有边界不清、FDG摄取阳性(SUV最大值13.5)的破坏性病变,其他部位无疾病证据。组织病理学检查显示为高级别恶性肿瘤,由大片紧密排列的大非典型细胞组成,伴有明显的胞质透亮、核多形性、显著核仁及非典型有丝分裂,伴有骨破坏及混合性炎性浸润。由于形态学未分化,应用了广泛的免疫组织化学检测。肿瘤上皮、B细胞、浆细胞、黑素细胞及肌源性标志物均为阴性,但CD45、CD3、CD30、ALK及EMA阳性,确诊为T细胞谱系的ALK阳性间变性大细胞淋巴瘤。骨髓穿刺和活检未发现浸润证据,确定下颌骨为原发部位。患者接受了本妥昔单抗联合R-CHOP方案治疗,临床反应良好,肿胀逐渐消退。该病例突出了儿科患者未分化下颌肿瘤的诊断复杂性,并强调了整合形态学、免疫表型分析及全身评估以识别外周T细胞淋巴瘤罕见表现的重要性。