Osteosarcoma in a patient with neurofibromatosis type 1: a case report and review of the literature.
Osteosarcoma in a patient with neurofibromatosis type 1: a case report and review of the literature.
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DOI：
10.1620/tjem.208.343
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发表时间：
2006-04
期刊：
影响因子：
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通讯作者：
M. Hatori;M. Hosaka;Mika Watanabe;T. Moriya;H. Sasano;S. Kokubun
中科院分区：
文献类型：
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作者：
M. Hatori;M. Hosaka;Mika Watanabe;T. Moriya;H. Sasano;S. Kokubun
1型神经纤维瘤病（NF1）或von Recklinghausen病是一种遗传性疾病，通常以卡萨梅-au-lait斑点和神经纤维瘤为特征。神经系统的恶性肿瘤，如恶性神经鞘瘤、胶质瘤或星形细胞瘤，众所周知与神经纤维瘤病共存。然而，与神经系统无关的恶性肿瘤的发生是罕见的。我们报告一个不寻常的病例，29岁的NF1女性患恶性周围神经鞘肿瘤（MPNST），最终在股骨近端发展成骨肉瘤。骨肉瘤是最常见的高度恶性骨肿瘤，肿瘤细胞产生类骨。在23岁和24岁时，她接受了左侧大腿后部MPNST的切除术。这些标本中未发现骨肉瘤部分。患者术后接受化疗。29岁时，左侧大腿近端出现疼痛和肿胀。计算机断层扫描显示发生MPNST的左股骨近端皮质骨破坏。磁共振成像显示肿瘤在骨骼外生长。骨显像显示左侧股骨近端摄取增加。进行髋关节脱臼。切除的肿瘤由高度间变性细胞组成。肿瘤细胞中可见不规则蕾丝样骨样形成。MPNST成分完全缺失。肿瘤诊断为成骨细胞型骨肉瘤。术后2个月患者死于双侧肺转移。骨肉瘤的组织发生与NF1患者基因异常的关系尚未明确，但本例骨肉瘤转化的发现提示NF1患者神经外胚层组织的细胞分化分化为间充质恶性肿瘤。
Neurofibromatosis type 1 (NF1) or von Recklinghausen's disease is a genetic disease generally characterized by café-au-lait spots and neurofibromas. Malignant tumors of the nervous system, such as malignant schwannomas, gliomas, or astrocytomas, have been well known to coexist with neurofibromatosis. However, occurrence of malignant tumors unrelated to the nervous system is rare. We report an unusual case of a 29-year-old NF1 female suffering from malignant peripheral nerve sheath tumor (MPNST) that eventually developed osteosarcoma in the proximal femur. Osteosarcoma is the most common high-grade malignant bone tumor in which the neoplastic cells produce osteoid. At 23 and 24 years old, she underwent excision of MPNST in the left posterior thigh. No osteosarcomatous portion was identified in these specimens. The patient underwent postoperative chemotherapy. At 29, left proximal thigh pain and swelling appeared. Computed tomography demonstrated cortical bone destruction in the left proximal femur where MPNST occurred. Magnetic resonance imaging revealed extraskeletal growth of the tumor. Bone scintigraphy demonstrated increased uptake in the left proximal femur. Hip disarticulation was performed. The removed tumor was composed of highly anaplastic cells. Lace-like irregular osteoid formation was observed among the tumor cells. MPNST component was totally absent. The tumor was diagnosed as osteoblastic type osteosarcoma. Two months after disarticulation the patient died of bilateral pulmonary metastasis. The correlation between the histogenesis of osteosarcoma and the genetic abnormality in NF1 patients has not been elucidated, but the finding of osteosarcomatous transformation in this case suggests the divergent cellular differentiation to mesenchymal malignant tumors of neuroectodermal tissue in NF1 patients.