神经纤维瘤病1型并慢性髓性白血病一例及文献复习

神经纤维瘤病是一组三种异质性疾病,包括神经纤维瘤病1型（NF1）、神经纤维瘤病2型（NF2）和神经鞘瘤病。NF1是这三种疾病中最常见的一种,临床表现多样,其主要特征是良性皮肤病变,包括神经纤维瘤和咖啡斑等。慢性髓性白血病是骨髓造血干细胞克隆性增殖形成的恶性血液肿瘤。检索PUBMED只发现3例关于慢性髓性白血病与神经纤维瘤病1型共存的报道。而通过复习相关文献,我们注意到在合并患有神经纤维瘤病1型的慢性髓性白血病患者,在发病机制及治疗上均有部分重叠。现我们报道1例面部巨大神经纤维瘤病1型患者并发慢性髓性白血病的病例。

Neurofibromatosis type 1 complicated with chronic myeloid leukemia: a case report and literature review

Neurofibromatosis is a group of three heterogeneous diseases, including neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis. NF1 is the most common of these three diseases with various clinical manifestations. Its main characteristics are benign skin lesions, including neurofibroma and coffee spot. Chronic myeloid leukemia (CML) is a hematological malignancy caused by clonal proliferation of bone marrow hematopoietic stem cells. Only 3 cases of coexistence of chronic myeloid leukemia and neurofibromatosis type 1 were found in PubMed. By reviewing the relevant literature, we noticed that the pathogenesis and treatment of chronic myeloid leukemia patients with neurofibromatosis type 1 have some overlap. We report a case of facial giant neurofibromatosis type 1 complicated with chronic myeloid leukemia.