Clinical presentation:
About 70% of cases of the GCTB are detected by palpation, 26% through screening and 4% during follow-up post breast malignancy [12,14,16]. Most of the palpable masses were painless, mobile, firm and elastic with some possible associated skins changes like thickening, tethering, dimpling and retraction. Some patients have reported pain or pruritus. Axillary lymph adenopathy is not common, most of the time being reactive [11,12,14]. GCTBs are usually solitary, but multiple lesions can occur within the breast or in combination with an extramammary mass in 18% of the cases [16]. In 10% of the cases there can be a concomitant malignancy, mostly ductal carcinoma [17,18]. Multiple GCTs should raise clinical concerns about associated syndromes such as Noonan syndrome, neurofibromatosis type I, and LEOPARD syndrome [19-24]. Some authors have reported PTPN11 gene mutations in granular cell tumors associated with LEOPARD and Noonan syndromes [22]. In another study, granular cell tumor was also associated with germline PTEN mutations in patients with PTEN hamartoma tumor syndrome [25].