Ghose Sandip, Pramanick Debasish, Mazumdar Anjana
Department of Oral Pathology, Dr. R. Ahmed Dental College and Hospital, 114, A.J.C. Bose Road, Kolkata, West Bengal, India.
Indian J Pathol Microbiol. 2020 Jan-Mar;63(1):112-115. doi: 10.4103/IJPM.IJPM_61_19.
Neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, is a type of genodermatoses having an autosomal dominant inheritance pattern and is recently considered as a RASopathy. Such patients are very much prone to develop mesenchymal tumors. However, carcinomas are quite rare in NF1 patients. This case study is the first case of oral squamous cell carcinoma (SCC) in tongue of an NF1 patient. A 35-year-old male reported to the Department of Oral Pathology in a tertiary care center with a chief complain of a painful ulcer on tongue for last 1 month. For confirmation of diagnosis of NF1, the "Diagnostic Criteria for Neurofibromatosis Type 1" was followed. Biopsied specimen of the tongue lesion was examined under microscope and histopathological features were suggestive of infiltrating SCC. Immunohistochemistry with Pan CK and beta-catenin was positive. RASopathy, WNT-beta-catenin pathway alteration, heat shock factor 1 production, and miRNA activity are investigated to explain the pathogenesis of malignancies in NF1 patients. In this first case of tongue SCC, we have found out the altered WNT-beta-catenin pathway.
1型神经纤维瘤病（NF1），也称为冯雷克林霍增氏病，是一种具有常染色体显性遗传模式的遗传性皮肤病，最近被认为是一种RAS病。这类患者极易发生间充质肿瘤。然而，NF1患者中癌症相当罕见。本病例研究是首例NF1患者舌部发生口腔鳞状细胞癌（SCC）的病例。一名35岁男性到一家三级护理中心的口腔病理科就诊，主诉舌部疼痛性溃疡持续1个月。为确诊NF1，遵循了“1型神经纤维瘤病诊断标准”。对舌部病变的活检标本进行显微镜检查，组织病理学特征提示为浸润性SCC。泛细胞角蛋白（Pan CK）和β-连环蛋白免疫组化呈阳性。对RAS病、WNT-β-连环蛋白信号通路改变、热休克因子1产生及微小RNA（miRNA）活性进行了研究，以解释NF1患者恶性肿瘤的发病机制。在这例首例舌部SCC病例中，我们发现了WNT-β-连环蛋白信号通路的改变。
