von Recklinghausen’s disease (vRD) is an autosomal dominant neurogenetic disorder characterized by symptoms of neurofibroma and café-au-lait plaques. Although some nonepithelial tumors, such as malignant peripheral nerve sheath tumors and optic nerve gliomas, are closely associated with vRD, carcinomas are quite rare.
This study reports a case of squamous cell carcinoma of the tongue in a patient with vRD. A 54-year-old woman was referred to our hospital because of a painful mass on her tongue. Initial clinical examinations revealed a 12 mm-sized mass with indurated margins on the right lateral border of the tongue, with no metastasis observed. The cytological diagnosis was class V, which strongly suggested squamous cell carcinoma (cT1N0M0); therefore, partial glossectomy was performed. Histopathological examination confirmed the diagnosis of squamous cell carcinoma. Three months after the surgery, secondary metastatic foci were observed in the right cervical lymph nodes, and subsequent right neck dissection was performed. Histopathological examination confirmed three lymph node metastases out of the total resected lymph nodes. The patient was strictly followed up for two years without any evidence of disease.
von Recklinghausen’s disease, is an autosomal dominant disorder. It is known to be associated with nonepithelial tumors.
The occurrence of oral carcinoma with vRD has rarely been documented, because it is relatively rare.
We performed a literature review of oral carcinoma in vRD patients to understand its characteristic pathophysiology.
It was considered necessary to accumulate more cases and conduct further studies in the future.
von Recklinghausen’s disease (vRD), also known as neurofibromatosis type 1 (NF1), is an autosomal dominant disorder characterized by neurofibromas and café-au-lait plaques [ ]. Although vRD is known to be associated with malignant tumors, most of them are nonepithelial, and epithelial malignancies are relatively rare [ ]. Recently, it has been reported that certain types of carcinomas may be associated with the mutation of NF1 [ , ], whereas oral carcinoma has rarely been documented. Here, we report a case of vRD with squamous cell carcinoma (SCC) of the tongue.
Presentation of case
The patient was a 54-year-old woman who presented with pain on the right side of her tongue. She had noticed it approximately two months before the first consultation. At the age of 45 years, she underwent total hysterectomy, bilateral adnexectomy, and partial small bowel resection for uterine fibroids and gastrointestinal stromal tumor (GIST). At the age of 46 years, she was admitted to the hospital with epilepsy and was diagnosed with vRD due to the observation of multiple neurofibromas and café-au-lait plaques on her body ( Fig. 1 A and B). Intraoral examination revealed an endophytic mass measuring 12 mm with indurated margins on the right border of the tongue ( Fig. 1 C). Significant swelling of the cervical lymph nodes was not observed on extraoral examination. Contrast-enhanced computed tomography (CT) did not reveal the primary tumor and cervical or distant metastases. Magnetic Resonance Imaging (MRI) fat-suppressed T2-weighted image demonstrated an enhanced mass with a depth of approximately 3 mm on the right side of the tongue ( Fig. 2 ). The lesion was clinically diagnosed as SCC based on cytological diagnosis and staged as cT1N0M0. The patient underwent partial glossectomy of the right side under general anesthesia. Intraoperative ultrasonography of the tongue revealed that the tumor was 3 mm thick. The extent of resection was determined using Lugol’s iodine staining. The histopathological diagnosis of the resected lesion was a well-differentiated SCC. The depth of invasion (DOI) was 0.8 mm, and the histopathological stage was stage I (pT1N0M0). The patient’s postoperative course was good, and she was discharged on the 13th day, after which she was followed up regularly. Three months after surgery, cervical ultrasonography showed enlarged lymph nodes with heterogeneous internal echogenicity on the submental and right side of the upper neck. Contrast-enhanced CT showed internal necrosis of the lymph nodes, suggesting metastasis ( Fig. 3 ). Therefore, the right-sided functional neck dissection was performed under general anesthesia. The histopathological diagnosis was SCC cervical lymph node metastasis with extranodal extension in multiple lymph nodes. Based on the histopathological diagnosis, the risk of postoperative recurrence was judged to be high, and adjuvant chemoradiotherapy was planned; however, at the patient’s decision, adjuvant therapy was not performed, and strict observation was continued. In two years since the surgery, no recurrence or metastasis of the tumor has been observed, and the patient is currently undergoing regular follow-up.