Diffuse-type Tenosynovial Giant Cell Tumor in Association With Neurofibromatosis Type 1-Noonan Syndrome: Possibly More Than a Chance Relationship

Posligua, Lorena; McDonald, Douglas J.; Dehner, Louis P.

doi:10.1097/00000478-200606000-00009

Cited by 4 publications

(2 citation statements)

References 26 publications

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“…Digital TGCT is the most common tumor type, presenting as a firm circumscribed nodule in subcutaneous tissues around the distal joints, especially on the fingers or the wrist. This rumor also presents in and around large joints, especially the knee, as a mass in excess of 8–10 cm in some cases without well-defined attachments to periarticular structures; within the joint space as PVS; or as a diffuse GCT in juxta-articular soft tissues near the ankle, wrist, proximal lower extremity, and truncal sites, such as the buttock, paravertebral region, sacrococcygeal area, and retroperitoneum [72], Diffuse-type TGCT has been associated with neurofibromatosis type 1 and Noonan syndrome [73].…”

Section: Benign Fibrohistiocytic Tumorsmentioning

confidence: 99%

Fibrohistiocytic Tumors and Related Neoplasms in Children and Adolescents

2012

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Fibrohistiocytic tumors (FHTs) in children and adolescents range from the benign fibrous histiocytoma, or dermatofibroma, to a variety of intermediate and malignant neoplasms, such as dermatofibrosarcoma protruberans and high-grade undifferentiated pleomorphic sarcoma (malignant fibrous histiocytoma). Those tumors as a group are comprised of fibroblasts, myofibroblasts, and histiocytes-dendritic cells with a variably prominent inflammatory infiltrate consisting of lymphocytes and eosinophils. Dendritic cells are also a major constituent of another group of neoplasms that include Langerhans cell histiocytosis, follicular and interdigitating cell sarcomas, and juvenile xanthogranuloma. These latter tumors are considered in this discussion for the sake of differential diagnosis and their possible histogenetic relationship to FHTs. Recent studies have suggested that the relationship between the fibroblast and histiocyte in the FHTs may reflect the intrinsic capacity to transdifferentiate from one to the other morphologic and functional state. The so-called “facultative fibroblast,” as a cell with fibroblastic and histiocytic properties, was discussed in the context of the fibrous xanthoma 50 years ago. Possibly the entire histogenetic concept of FHTs should be reconsidered in light of current studies.

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Section: Benign Fibrohistiocytic Tumorsmentioning

confidence: 99%

Fibrohistiocytic Tumors and Related Neoplasms in Children and Adolescents

2012

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“…Eine Vergesellschaftung mit anderen Erkrankungen wurde bereits mehrmals beschrieben: Myers und Masi fanden unter 49 Patienten mit diffuser PVS in 7 Fällen (14%) ein gleichzeitiges Bestehen einer rheumatoiden Arthritis [4]. Außerdem wurde die PVS bei Patienten mit Neurofibromatose [19], Hämangiomen und Lymphgefäßabnormalitäten beschrieben [20].…”

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Pigmentierte villonoduläre Synovialitis und tenosynovialer Riesenzelltumor

Bruns¹,

Yazigee²,

Habermann³

2008

Z Orthop Unfall

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Pigmented villo-nodular synovitis (PVS) and teno-synovial giant-cell tumors (TSGCT) are rare diseases of joints, tendon-sheaths and other synovial structures. Regarding PVS the knee joint is the most often involved joint and TSGCT are mostly located in the tendon-sheaths of fingers. Both diseases mostly occur in adults but are also observed in children. Symptoms of both diseases are non-specific. Optimal diagnosis includes an X-ray of the involved structure and a MRI. For PVS optimal therapy is a complete synovectomy, whereas, in TSGCT tumors resection of the tumor itself within marginal margins is sufficient. Because of the high rate of recurrence (up to 50 %) in cases suffering from PVS adjuvant therapeutical strategies such as postoperative radiation or radio-synoviorthesis are recommended. Although there are no significant analyses confirming the effect of an adjuvant therapy on the rate of recurrence scientifically at least there is a tendency that these strategies may reduce the rate of recurrence. Malignant dedifferentiation is rarely seen. The prognosis of the mostly benign disease depends on the extent of the disease, the involved structure, additional bony involvement and still existing degenerative changes. In TSGCT no severe sequelae are known. In contrast, PVS in the hip regularly is followed by a secondary osteoarthrosis, in other joints degenerative changes are depending on the still existing changes at the date of diagnosis. Data on the long-term prognosis are rare and only analysed retrospectively.

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Current Systemic Treatment Options for Tenosynovial Giant Cell Tumor/Pigmented Villonodular Synovitis: Targeting the CSF1/CSF1R Axis

Brahmi

Vinceneux

Cassier

2016

Curr. Treat. Options in Oncol.

102

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Adequate surgical resection remains the treatment of choice for tenosyovial giant cell tumor (TGCT). However, diffuse type TGCT (D-TGCT) is more difficult to resect and has a higher rate of recurrence (up to 50 %), which is often multiple. D-TGCT is rarely lethal and only rare cases of metastases have been described. Nevertheless, patients might have a significant decline in their quality of life due to multiple operations, which may sometimes result in a partial loss of function of the affected joint and may also be associated with perioperative morbidity and secondary arthrosis. As of today, no systemic treatment is approved for this rare disease. The aims of systemic therapy in the context of a non-lethal tumor are to reduce surgical morbidity and to preserve function and patient quality of life. Because TGCT is associated with characteristic cytogenetic abnormalities resulting in the overexpression of CSF1, systemic therapies targeting the CSF1/CSF1R axis (imatinib, nilotinib, emactuzumab, and PLX3397) have been tested in patients with locally advanced or relapsed D-TGCT. The more recent and more specific CSF1R inhibitors have shown a very interesting clinical activity with acceptable toxicity in early phase trials. These results will need to be confirmed in larger, ideally randomized, trials. But the high rate of clinical and functional improvement seen in some patients with advanced D-TGCT, often after multiple operations, suggests that these inhibitors will likely have a role in the management of patients with an inoperable disease; the definition of "inoperable TGCT" still requires refinement to reach a consensus. Another point that will need to be addressed is that of "the optimal duration of therapy" for these patients. Indeed, we and others have observed often prolonged clinical benefit and symptomatic relief even after treatment was stopped, with both monoclonal antibodies and tyrosine kinase inhibitors. Responses were observed very early on with emactuzumab and PLX3397, and patients experienced significant symptom improvement within a few weeks of starting therapy (2-4 weeks). Another possible application of CSF1R inhibitors could be used either as a preoperative or postoperative therapy for patients with operable TGCT. However, we currently lack sufficient follow-up to adequately address these questions which will each require specific trial designs. Overall, the striking clinical activity of CSF1R specific inhibitors in TGCT has created great enthusiasm among clinicians, and further development of these agents is clearly medically needed. Nevertheless, further investigations are necessary to validate those treatments and assess how to best incorporate them among other treatment modalities into the overall therapeutic strategy for a given patient.

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Diffuse-type Tenosynovial Giant Cell Tumor in Association With Neurofibromatosis Type 1-Noonan Syndrome: Possibly More Than a Chance Relationship

Cited by 4 publications

References 26 publications

Fibrohistiocytic Tumors and Related Neoplasms in Children and Adolescents

Fibrohistiocytic Tumors and Related Neoplasms in Children and Adolescents

Pigmentierte villonoduläre Synovialitis und tenosynovialer Riesenzelltumor

Current Systemic Treatment Options for Tenosynovial Giant Cell Tumor/Pigmented Villonodular Synovitis: Targeting the CSF1/CSF1R Axis

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