Malignant Diffuse-type Tenosynovial Giant Cell Tumors

Li, Chien‐Feng; Wang, Jun Wen; Huang, Wen Wen; Hou, Chi Chen; Chou, Shih‐Chien; Eng, Hock Liew; Lin, Chih‐Ming; Yu, Shih Chen; Huang, Hsuan Ying

doi:10.1097/pas.0b013e318158428f

Cited by 58 publications

(31 citation statements)

References 14 publications

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“…The mononucleated cells are immunoreactive to CD163, CD68, smooth muscle actin, desmin, and S100 protein, whereas osteoclastic giant cells are positive with CD68. [25] In our case, CD68 was positive in both stromal cells and giant cells.…”

Section: Discussionmentioning

confidence: 49%

“…The differential diagnoses of malignant D-TGCT are undifferentiated pleomorphic sarcoma, fibrosarcoma, and myxosarcoma. [5] In our case, the initial tumor could be a low grade malignancy with low metastatic potential, or a benign tumor which was slowly progressive, controlled by local excision and radiotherapy for approximately 4 years. Undifferentiated pleomorphic sarcoma, fibrosarcoma, and myxosarcoma show progressive disease with early relapse and metastasis, which were not seen in our case in the initial phase.…”

Section: Discussionmentioning

confidence: 94%

“…[35] However, most patients develop early local recurrences, regional nodal and distant metastases to the lung, vertebra or disseminated disease, and die of the disease within a few months of diagnosis. [235] Chemotherapy with CSF1R targeted imatinib, adriamycin, and ifosafamide has shown limited success. [3] Our case also showed rapidly progressive disease with lung metastases and died of the disease.…”

Section: Discussionmentioning

confidence: 99%

“…[34] Malignant D-TGCTs, however, are more destructive and show frequent metastasis and cellular anaplasia, and patients with this tumor have poor prognosis. [5] Less than 50 cases of malignant D-TGCT have been reported mostly as case reports, and the diagnosis is made on the basis of histopathological examination. [356] We describe the cytomorphologic features of a malignant D-TGCT from a lung metastasis.…”

Section: Introductionmentioning

confidence: 99%

“…[5] Less than 50 cases of malignant D-TGCT have been reported mostly as case reports, and the diagnosis is made on the basis of histopathological examination. [356] We describe the cytomorphologic features of a malignant D-TGCT from a lung metastasis.…”

Section: Introductionmentioning

confidence: 99%

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Fine needle aspiration cytology diagnosis of metastatic malignant diffuse type tenosynovial giant cell tumor

Ramteke

Iyer

Madan

et al. 2017

J Cytol

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Tenosynovial giant cell tumors (TGCTs) arise from the synovium of joint, bursa, and tendon sheath, and are classified into localized and diffuse types. Diffused type often affects the large joint, and has more recurrence, metastasis, and malignant transformation potential compared to the localized type. Malignant diffused TGCT (D-TGCT) usually occurs as a large tumor (>5 cm), in older patients, and its histopathologic features include necrosis, cellular anaplasia, prominent nucleoli, high nuclear cytoplasmic ratio, brisk mitosis, discohesion of tumor cells, paucity of giant cells, and a diffuse growth pattern. At least five of these criteria are required for the histopathologic diagnosis of malignant TGCT because the benign TGCT also shares many of these morphological features. We describe the cytomorphologic features of a malignant D-TGCT from an unusual case of pulmonary metastasis in an adult patient. Fine needle aspiration cytologic features of malignant D-TGCT have not been described earlier in the English literature.

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Section: Discussionmentioning

confidence: 49%

Section: Discussionmentioning

confidence: 94%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Fine needle aspiration cytology diagnosis of metastatic malignant diffuse type tenosynovial giant cell tumor

Ramteke

Iyer

Madan

et al. 2017

J Cytol

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Fine‐needle aspiration cytology of diffuse type tenosynovial giant cell tumor with malignant trasformation and review of literature

Shafi,

MacDonald,

Satturwar

2024

Diagnostic Cytopathology

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Tenosynovial giant cell tumors (TGCTs) arise from the synovium of joint, bursa, and tendon sheath. Diffuse type often affects large joints, has higher recurrence rates, metastases, and malignant transformation potential compared to the localized type. The cytopathology of TGCT, a fibrohistiocytic neoplasm distinct from other giant cell–rich soft tissue tumors, is rarely reported. Here we describe cytomorphology of a case of TGCT that was initially diagnosed on fine‐needle aspiration cytology (FNAC) consisting of a mixture of singly scattered polygonal or spindle mononuclear cells with hemosiderin laden macrophages, inflammatory cells, and a population of multinucleated osteoclast‐like giant cells. Persistent symptoms and repeat excision were consistent with high‐grade malignant transformation of the TGCT. Atypical cytologic features in a recurrent, infiltrative, or a metastatic lesion should raise suspicion for malignancy.

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A novel colony‐stimulating factor 1 (CSF1) translocation involving human endogenous retroviral element in a tenosynovial giant cell tumor

Lipplaa

Meijer

Sande

et al. 2023

Genes Chromosomes & Cancer

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Tenosynovial giant cell tumors (TSGCTs) are rare tumors arising in tendons or the synoviae of joints and bursae. The localized type is benign while the diffuse type shows expansive growth leading to greater morbidity and is therefore considered locally aggressive. Typical recurrent chromosomal aberrations are found in the majority of TSCGT and the CSF1 gene is frequently involved. In this article, we describe a newly identified gene fusion mediated by an inversion in a case of diffuse TSGCT.Multicolor-fluorescence in situ hybridization (FISH) molecular karyotyping identified a pericentric inversion of chromosome 1 in 7 out of 17 analyzed cells 46,XX,inv(1) (p13.3q24.3) [7]/46,XX [10], and with interphase FISH the involvement the CSF1 locus was detected. After performing transcriptome sequencing analysis for fusion detection, only one out of five fusion gene algorithms detected a fusion involving the CSF1 gene product. The resulting chimera fuses a sequence from a human endogenous retrovirus (HERV) gene to CSF1 Exon 6 on chromosome 1, abrogating the regulatory element of the 3 0 untranslated region of the CSF1 gene. This new translocation involving Exon 6 of the CSF1 gene fused to 1q24.1, supports the hypothesis that a mutated CSF1 protein is likely to play a vital role in the pathogenesis of TSGCT. The role of the HERV partner identified as a translocation partner, however, remains unclear. Our data add to the complexity of involved translocation partners in TSGCT and point to the potential difficulty of identifying fusion partners in tumor diagnostics using transcriptome sequencing when HERV or other repeat elements are involved.

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Malignant Diffuse-type Tenosynovial Giant Cell Tumors

Cited by 58 publications

References 14 publications

Fine needle aspiration cytology diagnosis of metastatic malignant diffuse type tenosynovial giant cell tumor

Fine needle aspiration cytology diagnosis of metastatic malignant diffuse type tenosynovial giant cell tumor

Fine‐needle aspiration cytology of diffuse type tenosynovial giant cell tumor with malignant trasformation and review of literature

A novel colony‐stimulating factor 1 (CSF1) translocation involving human endogenous retroviral element in a tenosynovial giant cell tumor

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