Diffuse-type tenosynovial giant cell tumor in association with neurofibromatosis type 1-Noonan syndrome: Possibly more than a chance relationship

A case of diffuse-type tenosynovial giant cell tumor arising in the left upper extremity is reported in a 23-year-old man with neurofibromatosis type 1 (NF1)-Noonan syndrome. The predominately mononuclear cellular proliferation with psammomatous calcifications had the immunohistochemical and ultrastructural features of a fibrohistiocytic neoplasm. This uncommon type of soft tissue neoplasm occurring in this unique clinical setting served to open an inquiry into the subject of nonneurogenic tumors in association with NF1 and Noonan syndrome, both manifested in our patient. Nonossifying fibroma of bone as a presumptive fibrohistiocytic tumor is an uncommon but well-documented manifestation in NF1, whereas in Noonan-like syndrome, both giant cell granuloma and pigmented villonodular synovitis are recognized as associated lesions with histologic and immunophenotypic similarities with the diffuse-type tenosynovial giant cell tumor.