Catelli Arianna, Nanni Cristina, Mulè Rita, Zinzani Pier Luigi, Sabattini Elena, Lanari Marcello, Conti Francesca
Specialty School of Paediatrics-Alma Mater Studiorum, University of Bologna, 40138 Bologna, Italy.
Nuclear Medicine, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
J Clin Med. 2024 Apr 11;13(8):2203. doi: 10.3390/jcm13082203.
Activated phosphoinositide 3-kinase-δ syndrome 2 (APDS2) is characterized by lymphoproliferation and increased risk of malignancy. FDG-PET/CT may represent a helpful diagnostic tool for differentiating these clinical features and correctly diagnosing inborn errors of immunity (IEI). We present the case of a female patient diagnosed with Hodgkin's lymphoma at 19 years of age, although atypical imaging aspects emerged: baseline FDG-PET/CT revealed several hot lymph nodes with a symmetrical distribution, and increased tracer uptake in spleen, axial, and appendicular bone marrow. Imaging repeated after chemotherapy and autologous stem cell transplantation showed persistent increased FDG uptake at multiple supradiaphragmatic nodes and in bone marrow. After the diagnosis of APDS2 and rapamycin treatment, FDG-PET/CT confirmed complete metabolic normalization of all sites. In the IEI scenario, FDG-PET/CT plays an effective role in differentiating malignant proliferation and immune dysregulation phenotypes. Atypical patterns at FDG-PET/CT should be interpreted as a red flag for the need of an early immunological evaluation.
活化磷脂酰肌醇3激酶δ综合征2（APDS2）的特征是淋巴细胞增殖和恶性肿瘤风险增加。氟代脱氧葡萄糖正电子发射断层扫描/计算机断层扫描（FDG-PET/CT）可能是区分这些临床特征并正确诊断先天性免疫缺陷（IEI）的有用诊断工具。我们报告一例19岁被诊断为霍奇金淋巴瘤的女性患者，尽管出现了非典型的影像学表现：基线FDG-PET/CT显示多个热淋巴结呈对称分布，脾脏、中轴骨和四肢骨髓的示踪剂摄取增加。化疗和自体干细胞移植后重复进行的影像学检查显示，多个膈上淋巴结和骨髓中FDG摄取持续增加。在诊断为APDS2并接受雷帕霉素治疗后，FDG-PET/CT证实所有部位完全代谢正常。在IEI情况下，FDG-PET/CT在区分恶性增殖和免疫失调表型方面发挥着有效作用。FDG-PET/CT的非典型模式应被视为需要早期进行免疫学评估的警示信号。
