神经纤维瘤病1型（NF1）是由神经纤维素1（NF1）基因突变引起的常染色体显性多系统综合症，该基因编码蛋白神经纤维素具有肿瘤抑制功能。神经纤维素主要作为Ras家族癌基因的GTP酶激活蛋白功能，激活许多与细胞增殖和分化相关的信号通路; 没有神经纤维素，Ras会构成性激活，从而开启很多与致癌相关的下游信号通路。NF1患者有一些已知的易感癌症，包括恶性周围神经鞘肿瘤、胶质瘤和乳腺癌，以及NF1与淋巴增生性疾患如淋巴瘤的潜在关联。本文中，我们回顾了NF1的病理生理和肿瘤发生机制，以前报道的NF1患者的皮肤淋巴瘤病例以及我们NF1相关的头皮B细胞淋巴瘤和NF1相关的皮外淋巴瘤的病例展示。在NF1患者中，淋巴瘤特别是皮肤淋巴瘤的诊断可能很困难，因为他们经常有皮肤病变和/或皮肤/皮下结节或肿瘤，如神经纤维瘤，这增加了NF1患者被低估皮肤淋巴瘤的可能性。我们还全面讨论了NF1和淋巴瘤之间的联系。总之，大多数研究支持NF1和淋巴瘤之间的潜在关联。需要进一步研究来阐明NF1和淋巴瘤之间的关联，以将可能被低估的NF1相关淋巴瘤的临床意识和NF1患者个体化管理带入实践。版权所有©2023澳大利亚病理学家学院。由Elsevier B.V.出版。保留所有权利。

Neurofibromatosis type 1 (NF1) is an autosomal dominant multisystem syndrome caused by mutations in the neurofibromin 1 (NF1) gene that encodes for the protein neurofibromin acting as a tumour suppressor. Neurofibromin functions primarily as a GTPase-activating protein for the Ras family of oncogenes, which activates many signalling pathways for cell proliferation and differentiation; without neurofibromin, Ras is constitutively activated, thereby turning on many downstream signalling pathways related to oncogenesis. Patients with NF1 have a well known predisposition for certain types of malignancies including malignant peripheral nerve sheath tumours, gliomas, and breast cancers, as well as a potential association of NF1 with lymphoproliferative disorders such as lymphomas. In this article, we review the pathophysiology and tumourigenesis of NF1, previously reported cases of cutaneous lymphomas in NF1 patients along with our case demonstration of a NF1-associated scalp B-cell lymphoma, and NF1-associated extra cutaneous lymphomas. The diagnosis of lymphomas particularly cutaneous lymphomas may be difficult in NF1 patients as they often have skin lesions and/or cutaneous/subcutaneous nodules or tumours like neurofibromas, which raises the possibility of underdiagnosed cutaneous lymphomas in NF1 patients. We also comprehensively discuss the association between NF1 and lymphomas. In summary, most studies support a potential association between NF1 and lymphomas. Further investigation is needed to clarify the association between NF1 and lymphomas in order to bring clinical awareness of possibly underdiagnosed NF1-associated lymphomas and individualised management of NF1 patients to practice.Copyright © 2023 Royal College of Pathologists of Australasia. Published by Elsevier B.V. All rights reserved.