USD Sanford School of Medicine, Sioux Falls, South Dakota.
Sanford Health, USD Sanford School of Medicine, Sioux Falls, South Dakota.
Pediatr Blood Cancer. 2020 Dec;67(12):e28704. doi: 10.1002/pbc.28704. Epub 2020 Sep 12.
A 4-year-old female child developed cutaneous Langerhans cell histiocytosis 6 months following a diagnosis of T-cell acute lymphoblastic leukemia. Imaging revealed no evidence of systemic disease. Seven months later, the first systemic lesion was discovered on laryngoscopy. Restaging Positron Emission Tomography - Computed Tomography at that time revealed new 18-fluorodeoxyglucose-positive lesions in the left apical pleural margin, right lower peri-esophageal region, left ventricular myocardium, pancreas, upper pole of the left kidney, and inguinal and gluteal regions consistent with progressive systemic disease. Genomic testing revealed a low tumor mutational burden as well as mutations in KRAS G12A, ARID1A Q524, CDKN2A/B loss, and an alteration in NOTCH1.
一名 4 岁女童在确诊 T 细胞急性淋巴细胞白血病 6 个月后出现皮肤朗格汉斯细胞组织细胞增生症。影像学检查未发现全身疾病的证据。7 个月后，在喉镜检查中发现了第一个全身病变。此时的正电子发射断层扫描-计算机断层扫描（Positron Emission Tomography-Computed Tomography，PET-CT）重新分期显示，左肺尖胸膜缘、右食管下区、左心室心肌、胰腺、左肾上部、腹股沟和臀区有新的 18-氟脱氧葡萄糖（18-fluorodeoxyglucose，18F-FDG）阳性病变，提示疾病进展为全身性疾病。基因检测显示肿瘤突变负担低，存在 KRAS G12A、ARID1A Q524、CDKN2A/B 缺失以及 NOTCH1 改变。
