Ben-Izhak O, Groisman G M
Department of Pathology, Rambam Medical Center, Haifa, Israel.
Arch Pathol Lab Med. 1995 Mar;119(3):285-8.
A 48-year-old man with the nonfamilial form of neurofibromatosis type 1 (NF-1) developed a malignant fibrous histiocytoma in the deep soft tissue of the calf. Following excision and local radiotherapy, the tumor did not recur. At age 59, due to rectal bleeding, a polypoid malignant melanoma of the anal canal was detected and resected. One year later a local recurrence was removed, a pelvic mass was seen on computed tomography, and the patient died. The malignant melanoma was amelanotic and negative for HMB-45 (a melanoma-specific antibody), and the recurrent tumor showed areas of desmoplasia and prominent perineural and intraneural spread. The latter properties underscore the similarities of this melanoma to malignant peripheral nerve sheath tumor. In addition to neurofibroma and malignant schwannoma, NF-1 is associated with other neuroectodermal tumors, including brain tumors and pheochromocytoma. However, it is still controversial whether cutaneous malignant melanoma is more prevalent in NF-1 patients. Anorectal melanoma and malignant fibrous histiocytoma are exceedingly rare in NF-1. Second primary cancers are probably more frequent in NF-1 patients compared to the general population and may be related to alterations in the NF-1 gene.
一名患有非家族性1型神经纤维瘤病（NF-1）的48岁男性在小腿深部软组织中发生了恶性纤维组织细胞瘤。切除并进行局部放疗后，肿瘤未复发。59岁时，因直肠出血，检测出肛管息肉样恶性黑色素瘤并进行了切除。一年后，切除了局部复发病灶，计算机断层扫描显示盆腔有肿块，患者死亡。该恶性黑色素瘤无黑色素，HMB-45（一种黑色素瘤特异性抗体）检测为阴性，复发性肿瘤表现为促纤维增生区域以及明显的神经周围和神经内扩散。后一种特性突出了这种黑色素瘤与恶性周围神经鞘瘤的相似性。除了神经纤维瘤和恶性神经鞘瘤外，NF-1还与其他神经外胚层肿瘤有关，包括脑肿瘤和嗜铬细胞瘤。然而，NF-1患者中皮肤恶性黑色素瘤是否更常见仍存在争议。肛管直肠黑色素瘤和恶性纤维组织细胞瘤在NF-1中极为罕见。与普通人群相比，NF-1患者中第二原发性癌症可能更常见，这可能与NF-1基因的改变有关。
