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].