Orthopaedic Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York.
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York.
JBJS Case Connect. 2024 Oct 3;14(4). doi: e24.00200. eCollection 2024 Oct 1.
Lynch syndrome (hereditary nonpolyposis colorectal cancer) is associated with extracolonic manifestations, but skeletal tumors are rare. Our patient, a 12-year-old boy with Lynch syndrome, developed osteosarcoma of the left femur. Treatment included cytotoxic chemotherapy, wide resection, and pembrolizumab. Two years later, he developed an aggressive lesion in the contralateral femur that was thought to be metastatic osteosarcoma but which histology revealed to be Langerhans cell histiocytosis.
This case underscores the importance of advanced testing in patients with osteosarcoma and poor response to chemotherapy, and of tissue sampling when patients with a primary malignancy develop new bone lesions.
IV.
林奇综合征（遗传性非息肉病性结直肠癌）与结外表现有关，但骨骼肿瘤较为罕见。我们的患者是一名 12 岁的林奇综合征男孩，他患有左侧股骨骨肉瘤。治疗包括细胞毒性化疗、广泛切除和派姆单抗治疗。两年后，他的对侧股骨出现侵袭性病变，被认为是转移性骨肉瘤，但组织学检查显示为朗格汉斯细胞组织细胞增生症。
该病例强调了对骨肉瘤患者进行高级检测的重要性，以及对化疗反应不佳的患者进行组织取样的重要性，特别是对于患有原发性恶性肿瘤的患者出现新的骨骼病变时。
IV。
