NF1 diagnosis criteria and associated sarcomatous tumor review of the literature and case report.

AIM: This paper reports the case of a sarcomatous tumor (probably a pleomorphic sarcoma) in a patient with Neurofibromatosis type 1 (NF1) and discusses the association between these two diseases.

BACKGROUND: NF1 is an autosomal dominant tumor predisposition syndrome. Malignant transformation is observed in patients with this disease, usually in the form of malignant peripheral nerve sheath tumors (MPNSTs).

REPORT: A 72-year-old female patient with diagnosis of NF1 presented with left mandibular region enlarged for about 6 months, intra-oral examination revealed a mass growth on the floor of the lower left posterior area of the oral cavity measuring 5 cm in its greatest diameter and covered by ulcerated mucosa.

SUMMARY: Few cases of association of neurofibromatosis with other types of soft tissue sarcomas have been reported. Undifferentiated pleomorphic sarcomas are the most common of these tumors. We intend to call attention to the importance of patient follow-up and counseling.