A Rare Case of Diffuse-type Tenosynovial Giant Cell Tumor in a Teenager With Noonan Syndrome.

Noonan syndrome is a common autosomal dominant disorder associated with an increased risk of malignancy. We report a 16-year-old female with Noonan syndrome (KRAS gene variant, Q22R) and diffuse-type tenosynovial giant cell tumor, a proliferative disorder that has been rarely reported in this population. These tumors may represent a complication of the dysregulated RAS/MAPK signaling pathway that underlies Noonan syndrome. They lack typical clinical features, causing misdiagnosis and delays in management, which could lead to osseous invasion requiring more complicated surgical procedures. Increased awareness of this association will improve the clinical outcomes of patients with Noonan syndrome who develop diffuse-type tenosynovial giant cell tumors.

[Tumors affecting the temporomandibular joint - a literature review]. / Tumeurs de l'articulation temporomandibulaire ­ revue de la littérature.

Benign and malign tumors can affect the temporomandibular joint (TMJ) as any other articulation. Nevertheless, TMJ tumors are rare and mostly benign. Their clinical expression is varied including symptomatology similar to TMJ dysfunctional disorders, otologic or neurologic pathologies. In some cases, they remain totally asymptomatic. Hence, diagnosis is difficult since the symptomatology can be misleading with TMJ dysfunctional disorders or otologic disorders wrongly diagnosed. There is thus frequently a long delay between symptoms onset and diagnosis. The great variety of TMJ lesions explains the wide range of possible treatment modalities, mostly based on surgery. We provide here a review of the lesions originating from the TMJ. Tumoral or cystic mandibular lesion affecting the TMJ through local extension will not be discussed. Osteoma, osteoid osteoma, osteoblastoma, chondroma, osteochondroma, chondroblastoma, tenosynovial giant cell tumors, giant cell lesions, non-ossifying fibroma, hemangioma, lipoma or Langerhans cell histiocytosis are all possible diagnosis among the benign tumors found in the TMJ. Pseudotumors include synovial chondromatosis and aneurysmal bone cyst. Finally, malign tumors of the TMJ include mainly sarcomas (osteosarcoma, chondrosarcoma, synovial sarcoma, Ewing sarcoma, and fibrosarcoma), but also multiple myeloma and secondary metastases. We will review the clinical, radiological and histological aspects of each of these lesions. The treatment and the recurrence risk will also be discussed.

Tenosynovial Giant Cell Tumor in an Infant.

In this report, the authors describe a child presenting at 6 months old with a rapidly expanding extracranial left temporal mass concerning for malignancy. The mass was successfully treated at 16 months with radical surgical excision. The patient was found to have a tenosynovial giant cell tumor, diffuse type, completely encased by the temporalis muscle. To our knowledge, this is the first report of a case of diffuse type tenosynovial giant cell tumor in the temporalis muscle, without articular involvement, presenting in an infant.

Risk factors for early osteoarthritis in tenosynovial giant cell tumour. / Factores de riesgo para artrosis precoz en el tumor de células gigantes tenosinovial.

OBJECTIVE: Tenosynovial giant cell tumour (TGCT) is locally aggressive entity affecting young people (around 4th decade of life) and can cause joint destruction. It could be nodular or diffuse. These two varieties are histological and genetically similar, but present a different prognosis. The aim of this study is to identify risk factors for local recurrence and predisposing factors for the development of early osteoarthritis in patients with TGCT. MATERIAL AND METHODS: We conducted a retrospective study of 35 patients with an anatomopathological diagnosis of TGCT in our Institution from 1991 to 2017. The mean follow-up was 8.2 years. Demographic variables, characteristics of the primary tumor and its evolution were collected to assess the risk factors for local recurrence and early osteoarthritis. RESULTS: The diffuse type was identified as a risk factor for the development of osteoarthritis (p=0.01) and for local recurrence (p=0.015). Osteoarthritis was more frequent in the hip and ankle than in the knee (p=0.03). A difference of 16 months in the duration of symptoms prior to diagnosis between those who developed osteoarthritis and those who did not was observed (p=0.05). CONCLUSIONS: The diffuse type is more aggressive than the nodular type; it is associated with a higher risk of osteoarthritis and local recurrence. The hip and ankle present a higher risk of osteoarthritis than other joints. The time of evolution of the symptoms before diagnosis and adequate treatment, negatively influences the development of osteoarthritis.

Nodular Tenosynovitis of the Temporomandibular Joint: An Entity Not Yet Described.

Nodular tenosynovitis usually affects the hands and it represents a benign pathology with locally aggressive behavior. Its etiology could be related to chronic inflammatory processes such as trauma, metabolic disturbance, and joint diseases. Histopathological analysis is required for a diagnosis of certainty and surgery represents the treatment of choice. There are no cases in the literature that describe a nodular tenosynovitis affecting the temporomandibular joint (TMJ) The main aim of the present report therefore, is to describe this unusual case and to show the utility of arthroscopic procedures in managing intra-articular tumors of the TMJ.

Patients with benign hand tumors are indicated for surgery according to patient-rated outcome measures.

INTRODUCTION: This study assessed the treatment outcomes of upper extremity benign tumors using the patient-rated outcome measures of Hand20 questionnaire. METHODS: In total, 304 patients who underwent surgery for benign bone and soft tissue tumors of the upper limb were included. Tumors were classified into three size groups: <1 cm, 1-3 cm, and >3 cm. Tumors were divided with respect to location: digit, hand, wrist, forearm, elbow, upper arm, or axilla. We prospectively assessed responses to the Hand20 questionnaire that was administered both before and after surgery. RESULTS: The mean Hand20 and pain scores significantly improved after surgery in patients with ganglion cysts, giant cell tumors of the tendon sheath, enchondromas, or pyogenic granulomas. For patients with hemangiomas, schwannomas, or glomus tumors, although the mean pain scores improved significantly following surgery, there were no significant changes in the mean Hand20 scores. However, the statistical power for this analysis was low. The mean Hand20 and pain scores improved significantly, regardless of the size grouping. The mean Hand20 scores significantly improved after surgery in patients with finger, thumb, hand, or wrist tumors. Except for elbow to axillary tumors, the mean pain scores significantly improved in all patients. CONCLUSION: The results of Hand20 and pain scores suggest that most patients with benign hand tumors are indicated for surgery, but the degree of improvement differs according to tumor pathology and location but not size.

Multifocal tenosynovial giant cell tumors in a child with Noonan syndrome.

Noonan syndrome is a genetic disorder with variable expression of distinctive facial features, webbed neck, chest deformity, short stature, cryptorchidism and congenital heart disease. The association of Noonan syndrome and giant cell granulomas of the mandible is widely reported. However, Noonan syndrome may also be associated with single or multifocal tenosynovial giant cell tumors, also referred to as pigmented villonodular synovitis. We report a child with Noonan syndrome, giant cell granulomas of the mandible and synovial and tenosynovial giant cell tumors involving multiple joints and tendon sheaths who was initially misdiagnosed with juvenile idiopathic arthritis. It is important for radiologists to be aware of the association of Noonan syndrome and multifocal giant cell lesions, which can range from the more commonly described giant cell granulomas of the mandible to isolated or multifocal intra- or extra-articular tenosynovial giant cell tumors or a combination of all of these lesions.

Tenosynovial giant cell tumors in unusual locations detected by positron emission tomography imaging confused with malignant tumors: report of two cases.

BACKGROUND: A tenosynovial giant cell tumor (T-GCT) is a benign synovial tumor arising from the synovium, bursae, or tendon sheath. It can be intra- or extra-articular and localized or diffuse. Diffuse T-GCT is considered as a locally aggressive. Positron emission tomography (PET) with fluorine-18 fluorodeoxyglucose with computed tomography (FDG PET/CT) is widely used to differentiate malignant from benign tumors and to detect distant metastasis. However, FDG PET/CT is limited by false-positive findings. In this study, we present two cases of T-GCT that developed in unusual locations and were confused with malignant tumors. The final diagnoses were histologically confirmed as T-GCTs. CASE PRESENTATION: Case 1. A 45-year-old Japanese female presented with a left choroidal melanoma and an abnormal lesion adjacent to the first cervical (C1) lamina confirmed by a PET scan (maximum standardized uptake value [SUVmax] =9.9 g/ml). MRI of the neck also detected a soft tissue mass (14.6 × 7.7 × 7 mm) adjacent to the C1 lamina. The choroidal melanoma was treated by heavy carbon ion radiotherapy. Although the size of the C1 soft tissue tumor remained unchanged, a CT-guided biopsy confirmed the diagnosis of the neck mass as a T-GCT. Case 2. A 15-year-old Japanese male with multiple type 1 neurofibromatosis presented with a soft tissue mass (26.1 × 24.7 × 11.5 mm) of the extra-articular hip joint that was coincidentally detected by FDG PET/CT during examination of a mediastinal soft tissue mass. SUVmax of the mediastinal lesion was 2.6 g/ml and of the hip lesion was 12.8 g/ml. Thus, differentiation from a malignant tumor, such as a malignant peripheral nerve sheath tumor, was necessary. An open biopsy was performed, and the frozen section was diagnosed as T-GCT. The tumor was excised, and the final histological diagnosis confirmed T-GCT. CONCLUSION: T-GCT can show high FDG uptake, which might be confused with malignancy. Although MRI findings and location might help in the diagnosis of a T-GCT, careful assessment is mandatory, especially in unusual locations.

Pediatric Intra-Articular Localized Tenosynovial Giant Cell Tumor Presenting as an Acutely Irritable Hip: A Case Report.

CASE: An otherwise healthy 9-year-old girl developed a fever and atraumatic right hip pain with inability to bear weight and exquisite pain with any motion. Her peripheral white blood-cell count was 9.85 × 10/µL, erythrocyte sedimentation rate was 18 mm/hr, and C-reactive protein level was 7.56 mg/L. Aspiration yielded bloody fluid with 611,932 red blood cells/µL, 49,529 white blood cells/µL (92% neutrophils), negative Gram stain, and no crystals. Magnetic resonance imaging revealed an intracapsular lesion anterior to the femoral neck. The joint was irrigated and the lesion was excised. Microscopic examination showed neutrophils interspersed within an otherwise histologically classic tenosynovial giant cell tumor. CONCLUSION: Tenosynovial giant cell tumor may rarely present as an acutely irritable hip.