Diffuse-type giant cell tumour (DTGCT) is a benign but destructive proliferative disorder of the synovium of joint capsules, tendons and bursae. Lesions originating from the articular synovium may grow intra-articularly or expand widely extra-articularly. Rare cases may develop only in peri-articular tissues. Temporomandibular joint (TMJ) involvement is exceptional and only two cases of purely extra-articular TMJ-DTGCT have been reported. The authors report an additional case of extra-articular TMJ-DTGCT. The clinical features, histopathological characteristics, imaging modalities and diagnostic methods for DTGCT are discussed together with a literature review based on the clinical aspects of TMJ involvement.
Diffuse-type giant cell tumour (DTGCT) is a benign proliferative disorder of the synovium of joint capsules, tendons and bursae, characterized by a destructive proliferation of synovial-like mononuclear cells. It has an annual incidence in all joints of 1.8 cases per million population.
Swelling, tenderness and functional impairment of the affected joint are typical symptoms. DTGCT belongs to a superfamily of synovial proliferative lesions which, according to the WHO Classification of soft tumours, includes diffuse forms such as diffuse-type tenosynovial giant cell tumour (D-TTGCT) and pigmented villonodular synovitis (PVNS), and giant cell tumour of the tendon sheath (GCTTS), which represents the localized counterpart.
GCTTS presents with a well-defined nodule. It mainly occurs in the tendon sheath of the hands, in those aged 30–50 years, with a 2:1 female predominance. DTGCT is rarer and exhibits an extensive, and frequently aggressive, nodular and villous involvement of the synovium or the peri-articular soft tissues, mostly in the knee (75%), hip (15%) and ankle. It affects males and females equally, in the second to fourth decades. Extra-articular presentation is rarer. It is treated by surgical excision.
DTGCT of the temporomandibular joint (TMJ) is exceptional. A recent paper, in which this condition was regarded as PVNS found 52 cases reported in the English language literature. the present authors report an additional case of extra-articular TMJ-DTGCT together with a literature review based on the clinical aspects of the TMJ involvement.
A 63-year-old Caucasian man was referred to the authors’ institution in May 2010 with a mass in the left preauricular area that had been growing for the past 2 years. His general medical history was non-contributory. He denied any antecedent trauma on his face, as well as any locking, clicking or pain, and was only complaining of a tender sensation in the pre-auricular area.
His maximum inter-incisal opening was 42 mm with no deviation to the left side during mandibular excursion. Visual examination detected a mild swelling in the region, which on palpation revealed a remarkable, diffuse mass underlying the cutis. An orthopantomogram showed normal morphology of the head of the left condyle of the mandible. Computed tomography (CT) and magnetic resonance images (MRI) showed normal morphology and location of the left meniscus either with opened or closed mouth and detected no structural bone abnormalities ( Fig. 1 ). They revealed a relatively well circumscribed, rounded mass of left peri-articular soft tissues with a transversal diameter of 21 mm. The medial aspect of the lesion suggested an origin from articular structures though it expanded in all directions with a moderate displacement deep to the temporal lobe of the left parotid. T 2 -weighted MRI sequences showed marked signal hypointensity throughout the lesion ( Fig. 1 B). Considering the clinical history and the imaging features with no destructive growth, the main clinical differential diagnosis was a parotid gland neoplasm. Cytology using fine needle aspiration was undiagnostic. The patient underwent surgery under general anaesthesia through a pre-auricular approach. Once exposed, the lesion appeared to lack a fibrous capsule and was a brown-reddish mass with a soft and friable texture ( Fig. 2 A ). An intraoperative biopsy suggested a possible DTGCT. Careful examination of the TMJ revealed no evidence of involvement. Consequently, the whole mass was removed as completely as possible preserving TMJ structures and facial nerve branches.
Microscopic examination of the specimen showed nests of spindled or epithelioid mononuclear cells infiltrating the muscle and parotid gland involvement with fibrous tissue containing multinucleated giant cells pigmented by granules ( Fig. 2 B). Pearls staining suggested a hemosiderinic nature for these granules ( Fig. 2 D). Immunostaining revealed a HBM − , MelanA − , S-100 protein − pattern, but strong granular cytoplasmic reactivity with CD68 of giant and mononuclear cells ( Fig. 2 C). Ki-67 staining showed a low mitotic index. Based on the clinical, imaging, histologic and immunohistochemical findings the lesion was diagnosed as DTGCT. No additional adjuvant therapy was suggested. The patient developed post-surgical facial paralysis which resolved after 2 months. No recurrence occurred after 12 months of follow-up.
The authors describe a purely extra-articular case of TMJ-DTGCT. DTGCT belongs to a family of lesions affecting the synovium historically divided in two groups: PVNS and pigmented villonodular bursitis; and localized nodular synovitis and pigmented villonodular tenosynovitis. The first group included the diffuse form in diarthroidal joints and bursa/tendon synovium, while the second was the exact counterpart with a localized appearance. In the medical literature, localized forms have generally been regarded as GCTTS as they characteristically affect the synovial tendon sheath of the hands and feet. Diffuse forms have mainly been regarded as PVNS, because they often arise from the articular synovium; when the origin appears to be from bursa or tendon sheaths the attribute ‘extra-articular’ has been added. Many authors use the term ‘extra-articular PVNS’ to describe the clinical presence of an extra-articular expansion of the lesion and not because of a primary synovial origin.
This potential misunderstanding has occurred in the TMJ area. In 1995 Enzinger and Weiss introduced the term tenosynovial giant cell tumour and classified it into a diffuse variant (i.e. D-TTGCT) and a localized variant (i.e. GCTTS). They indicated that the diffuse form was a synonym of PVNS with extra-articular origin (i.e. bursae and tendons) with or without involvement of an adjacent joint.
In 1998 Omura et al. reported one case of D-TTGCT of the TMJ and described it as the first case. To date, two other cases have been described, one recently, although its existence had been questioned by Lee et al. in 2000. They thought the case described by Omura et al. was extrarticular PVNS, as Enzinger and Weiss had indicated it was a synonym of D-TTGCT. The present authors point out that the D-TTGCT of TMJ cannot exist as Enzinger and Weiss considered the extra-articular synovial origin of the lesion and not the clinical aspect of extra-articular diffusion, also the TMJ lacks bursae and sliding tendons lined by synovium, unlike the fingers and knee.
The present authors have adopted the nomenclature of the current WHO classification of soft tumours, which considers the diffuse forms as DTGCT, and the localized ones as GCTTS. All these lesions share the common histologic findings of a villous to nodular synovial hyperplasia with proliferating synovial histiocyte-like cells, which are polyhedral, round or spindled, and have variable proportions of lymphocytes, giant cells, foamy macrophages and hemosiderin pigment. Immunohistochemically, the mononuclear cells express CD68. This cellular polymorphism has caused authors to debate whether this condition is a reactive lesion or true neoplasm. Findings of DNA aneuploidy, clonal karyotypic aberrations and up-regulation of telomerase activity as well as of the anti-apoptotic human peptide strongly suggested a neoplastic property for DTGCT. Though rare, malignancy and death from metastasis has been also reported in extra-articular forms. Both could fit the hypothesis given recent observations of an increased expression of colony stimulating factor 1 (CSF1) in synovial cells associated with its gene translocation. CFS1 binds the CSF1 receptor expressed by the synovial cell itself as well as by inflammatory cells, such as histiocytes, lymphocytes and multinucleated cells. The first autocrine effect causes neoplastic proliferation, the second paracrine effect determines the recruitment of inflammatory cells.
All these findings are shared by DTGCT and GCTTS and it has recently been advocated that the denomination of these conditions should be unified.
The authors reviewed all reported cases of giant cell tumour of the TMJ based on the clinical/intraoperative aspect of TMJ involvement. 56 cases were found in the English language literature ( Table 1 ). They all were unilateral. 54 cases (average age 44.0 ± 14.55 years) showed a diffuse pattern of growth and so were recognized as DTGCT. Of these, 50 developed in both extra-articular and intra-articular tissues, 1 was confined in the TMJ space and 3 grew only in peri-articular soft and hard tissues, strictly adherent to the capsule but with no evidence of involvement of the TMJ space and structures. 2 cases of localized giant cell tumour of the synovium, the above mentioned localized nodular synovitis, were detected and thus identified as GCTTS, according to WHO nomenclature ( Table 1 ). No case of extra-articular GCTTS was found, which is peculiar to the synovium of tendons, and is absent in the TMJ.
|Case||Author||Age/sex||Clinical features||Pre-operative diagnosis||Bony destruction||Treatment||Recurrence/months|
|Diffuse type with both extra-articular and intra-articular involvement|
|1–2||Lapayowker et al. (1973)||22/M||Preauricular mass, pain||Parotid tumour||Yes||SE, partial capsulectomy||NR|
|58/F||Preauricular mass, decreased hearing, trismus||NR||Yes||NR||NR|
|3||Barnard et al. (1975)||37/M||Preauricular mass, pain, trismus||PVNS||Yes||SE||NR|
|4||Dinerman et al. (1977)||58/F||Preauricular mass, decreased hearing, tinnitus, clicking||PVNS||Yes||SE, dura mater excision||No/48|
|5||Miyamoto et al. (1977)||34/M||Preauricular mass, trismus||Parotid tumour||No||SE||No/24|
|6||Raibley (1977)||62/F||Preauricular mass, pain||Malignant parotid tumour||Yes||SE||No/5|
|7||Tagagi and Ishikawa (1981)||36/M||Preauricular mass, sub-trismus, clicking||NR||Yes||SE, condilectomy||Yes/60|
|8||Gallia et al. (1982)||47/F||Preauricular mass, sub-trismus, pain||NR||Yes||SE||No/132|
|9||Rickert and Shapiro (1982)||39/F||Parotid mass||PVNS||NR||SE, partial capsulectomy||NR|
|10||Curtin et al. (1983)||47/F||Preauricular mass, pain, sub-trismus||PVNS||Yes||SE||NR|
|11||O’Sullivan et al. (1984)||61/F||Preauricular mass||Parotid tumour||Yes||SE, radiotherapy||Yes/36|
|12||Dawiskiba et al. (1989)||32/M||Preauricular mass, trismus, pain||PVNS (biopsy)||No||NR||NR|
|13||Eisig et al. (1992)||50/F||Hearing loss||Central giant cell granuloma||Yes||SE, condilectomy||No/12|
|14||Syed et al. (1993)||10/F||Preauricular mass||Parotid tumour||No||SE, partial capsulectomy||NR|
|15||Franchi et al. (1994)||59/F||Preauricular mass, pain||Parotid tumour||No||SE, partial capsulectomy||No/12|
|16||Shapiro et al. (1996)||36/M||Preauricular mass, pain, hearing loss, clicking||NR||Yes||SE||No/18|
|17||Youssef et al. (1997)||41/F||Preauricular mass, pain||PVNS||Yes||SE, synoviectomy||No/12|
|18||Rubin et al. (1997)||70/F||Preauricular mass, sub-trismus, clicking||NR||Yes||SE, synoviectomy||No/36|
|19||Allis-Montmayeur (1997)||39/F||External ear canal mass||NR||NR||NR||No/7|
|20||Tanaka et al. (1997)||47/M||Preauricular mass, sub-trismus, pain||Giant cell granuloma||Yes||SE, condilectomy, craniectomy||No/24|
|21||Yu et al. (1997)||48/M||Preauricular mass, pain||Parotid tumour||No||SE||NR|
|22||Chow et al. (1998)||42/F||Zygomatic mass||Giant cell tumour, chondroblastoma||Yes||SE, condylectomy, capsulectomy||No/24|
|23||Omura et al. (1998)||18/M||Preauricular mass, sub-trismus, pain||NR||Yes||SE||No/24|
|24||Bemporad et al. (1999)||37/M||Preauricular mass, sub-trismus, hearing loss||PVNS||Yes||SE||NR|
|25||Song et al. (1999)||57/F||Preauricular mass||Parotid tumour||Yes||SE, condilectomy||No/24|
|26||Lee et al. (2000)||59/F||Preauricular mass||PVNS||Yes||SE, condilectomy||No/24|
|27||Klenoff et al. (2001)||35/NR||Preauricular mass, sub-trismus, pain, tinnitus||Parotid tumour||Yes||SE, mandibulectomy, craniectomy||No/36|
|28||Shapiro et al. (2002)||36/M||Temporal/preauricular mass||PVNS (biopsy)||Yes||SE, craniectomy||No/84|
|29–30||Church et al. (2003)||42/M||Preauricular mass, clicking, hearing loss||PVNS (biopsy)||Yes||SE, partial mandibulectomy||No/36|
|33/M||Preauricular mass, sub-trismus, pain||PVNS (biopsy)||Yes||SE, partial mandibulectomy||No/24|
|31||Heo et al. (2003)||45/M||Preauricular mass, sub-trismus, clicking, tinnitus||PVNS||Yes||NR||NR|
|32||Aoyama et al. (2004)||33/M||Preauricular mass, sub-trismus, clicking||Giant cell tumour, malignant tumour||Yes||SE, condilectomy||No/24|
|33–36||Kim et al. (2004)||28/F||NR||NR||Yes||NR||NR|
|Diffuse type with extra-articular and intra-articular involvement|
|37||Tosun et al. (2004)||60/M||Zygomatic mass, pain, trismus||PVNS (biopsy)||Yes||SE, condilectomy||No/84|
|38–39||Stryjakowska et al. (2005)||36/M||Preauricular mass, sub-trismus, tinnitus||PVNS (biopsy)||Yes||SE, mandibulectomy||No/36|
|36/F||Preauricular mass, pain||NR||Yes||SE, partial capsulectomy||Yes/12|
|40–41||Oda et al. (2007)||52/M||Tightness in ear||NR||Yes||SE||No/11|
|67/M||Cheek mass, pain||NR||Yes||SE||No/87|
|42||Chen et al. (2007)||52/M||Preauricular mass, sub-trismus, pain||NR||Yes||SE, condilectomy||NR|
|43||Cascone et al. (2008)||78/M||Preauricular mass||NR||No||SE, partial synoviectomy||No/24|
|44||Chen et al. (2008)||56/F||Hearing loss, temporal pain||NR||Yes||SE, craniectomy, radiotherapy||No/9|
|45||Day et al. (2008)||38/M||Zygomatic mass, pain||Cholesterol cyst, aneurismal bone cyst||Yes||SE, partial synoviectomy||No/3|
|46||Herman et al. (2009)||36/M||Preauricular mass, sub-trismus, pain||NR||Yes||SE, craniectomy||No/132|
|47||Shkoukani et al. (2009)||74/F||Preauricular mass, sub-trismus, pain||NR||Yes||SE, condilectomy||No/NR|
|48||Leiggener et al. (2010)||22/F||Pain, trismus||NR||Yes||SE, condilectomy||No/36|
|49||Lu et al. (2010)||42/M||Preauricular mass||PVNS (biopsy)||Yes||SE, synoviectomy||Yes/24|
|50||Romaňach et al. (2011)||26/M||Preauricular mass, trismus, pain, hearing loss||Osteosarcoma, chondrosarcoma, metastasis||Yes||SE, synoviectomy, craniectomy, radiotherapy||No/18|
|Diffuse type with only intra-articular involvement|
|51||Kişnişci et al. (2001)||45/F||Preauricular mass, sub-trismus, pain||NR||Yes||SE, partial capsulectomy||NR|
|Diffuse type with only extra-articular involvement|
|52||Cascone et al. (2005)||38/F||Preauricular mass||NR||No||SE, parotidectomy||No/12|
|53||Gong et al. (2010)||34/M||Preauricular mass, trismus||Giant cell containing lesion (biopsy)||Yes||SE, craniectomy||No/24|
|54||Present case||63/M||Preauricular mass||Parotid tumour||No||SE, partial parotidectomy||No/11|
|Localized type with only intra-articular involvement|
|55||Makek et al. (1978)||55/F||Preauricular mass, trismus, pain||NR||Yes||SE, capsulectomy||No/9|
|56||Cai et al. (2009)||21/F||Preauricular mass, sub-trismus, pain, clicking||NR||No||SE, synoviectomy||No/13|