Fondazione I.R.C.C.S. Istituto Neurologico C. Besta, Unit of Molecular Neuro-Oncology, Milan, Italy.
Neurol Sci. 2012 Dec;33(6):1429-33. doi: 10.1007/s10072-011-0886-8.
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder, which confers an increased risk of a wide range of cancers, and malignant tumors are the most common cause of death in individuals with NF1. Although in children with NF1, the most common neoplasms are optic nerve gliomas and brain tumors, an elevated risk of myeloid leukemia and an increased relative risk of acute lymphoblastic leukemia and non-Hodgkin lymphoma were reported. In adults with NF1, the relative risk of brain tumor is 100 times higher than in the general population. Cases of malignant lymphoma occurring in NF1 adult patients have been reported. However, the association between NF1 and lymphoproliferative diseases is still debated. We report a case of CNS primitive lymphoma in an adult patient who resulted positive for NF1 at genetic testing. At present, only one case of CNS lymphoma in an adult patient displaying clinical criteria for NF1 diagnosis has been reported.
神经纤维瘤病 1 型（NF1）是一种常染色体显性遗传疾病，它会增加罹患多种癌症的风险，而恶性肿瘤是 NF1 患者死亡的最常见原因。尽管在 NF1 患儿中，最常见的肿瘤是视神经胶质瘤和脑肿瘤，但据报道，他们罹患髓性白血病的风险增加，急性淋巴细胞白血病和非霍奇金淋巴瘤的相对风险也增加。在 NF1 成年患者中，脑瘤的相对风险比普通人群高 100 倍。已有 NF1 成年患者发生恶性淋巴瘤的病例报告。然而，NF1 与淋巴增生性疾病之间的关联仍存在争议。我们报告了一例 NF1 基因检测阳性的成年患者中枢神经系统原始淋巴瘤。目前，仅有一例符合 NF1 诊断标准的成年患者中枢神经系统淋巴瘤的病例报告。
