Zhang Man, Xiao Jianwen, Liu Xing, Zhang Ziyuan, Li Xiang, Shi MingYan, Wang Peikang, Zhang Xinkai, Yao Hailun
Children's Hospital of Chongqing Medical University Chongqing China.
Pediatr Discov. 2023 Jun 10;1(1):e15. doi: 10.1002/pdi3.15. eCollection 2023 Jun.
Primary lymphoma of the bone (PLB) is a rare form of extranodal lymphoma. The clinical features and imaging findings of PLB are not specific. Histological examination and immunophenotyping is the gold standard for diagnosis. We reported three cases, all diagnosed with B-cell lymphoblastic lymphoma. The first patient is a 4-year-old boy with 6 months history of PLB. Lytic permeative areas with soft-tissue masses showed on imaging. A mutation of the FANCA gene of this patient was detected through whole exome sequencing (WES). The second patient is a 17-year-old boy with multiple areas of pain over 2 months. Flurodeoxyglucose positron emission tomography/computed tomography showed that the density of multiple bones was slightly increased. WES revealed a heterozygous splice site variation in the SBDS gene. The third patient is a 3-year-old boy with swelling and pain of the left knee joint and fever for 43 days. An oval like lesion area appeared on imaging. The display of case details helps to diagnose and understand PLB. The correlation between the occurrence and progression of the disease and FANCA gene and SBDS gene mutations remains to be studied.
骨原发性淋巴瘤（PLB）是一种罕见的结外淋巴瘤形式。PLB的临床特征和影像学表现不具有特异性。组织学检查和免疫表型分析是诊断的金标准。我们报告了3例病例，均诊断为B细胞淋巴母细胞淋巴瘤。首例患者为一名4岁男孩，有6个月的PLB病史。影像学检查显示有溶骨性浸润区域及软组织肿块。通过全外显子组测序（WES）检测到该患者的FANCA基因突变。第二例患者是一名17岁男孩，2个月来多处疼痛。氟脱氧葡萄糖正电子发射断层扫描/计算机断层扫描显示多骨密度略有增加。WES显示SBDS基因存在杂合剪接位点变异。第三例患者是一名3岁男孩，左膝关节肿胀疼痛伴发热43天。影像学检查出现椭圆形病灶区。病例细节展示有助于PLB的诊断和理解。疾病发生发展与FANCA基因和SBDS基因突变之间的相关性仍有待研究。
