scholarly journals Recurrent novel HMGA2-NCOR2 fusions characterize a subset of keratin-positive giant cell-rich soft tissue tumors

2021 ◽  
Author(s):  
Abbas Agaimy ◽  
Michael Michal ◽  
Robert Stoehr ◽  
Fulvia Ferrazzi ◽  
Pavel Fabian ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Giant Cell ◽  
Mononuclear Cells ◽  
Giant Cells ◽  
Soft Tissue Tumors ◽  
Low Grade ◽  
Giant Cell Tumors ◽  
Type Giant ◽  
Metaplastic Bone

AbstractGiant cell tumors of soft tissue (GCT-ST) are rare low-grade neoplasms that were at one time thought to represent the soft tissue counterparts of GCT of bone (GCT-B) but are now known to lack the H3F3 mutations characteristic of osseous GCT. We present six distinctive giant cell-rich soft tissue neoplasms that expressed keratins and carried a recurrent HMGA2-NCOR2 gene fusion. Patients were five females and one male aged 14–60 years (median, 29). All presented with superficial (subcutaneous) masses that were removed by conservative marginal (3) or wide (2) local excision. The tumors originated in the upper extremity (2), lower extremity (2), head/neck (1), and trunk (1). Five patients with follow-up (median, 21 months; range, 14–168) remained disease-free. Grossly, all tumors were well-demarcated but not encapsulated with variable lobulation. Histologically, they were composed of bland plump epithelioid or ovoid to spindled mononuclear cells admixed with evenly distributed multinucleated osteoclast-type giant cells. Foci of stromal hemorrhage and hemosiderin were seen in all cases. The mitotic activity ranged from 2 to 14/10 high power fields (median: 10). Foci of necrosis and vascular invasion were seen in one case each. The mononuclear cells were immunoreactive with the AE1/AE3 keratin cocktail and less frequently/less diffusely for K7 and K19 but lacked expression of other lineage-associated markers. RNA-based next-generation sequencing revealed an HMGA2-NCOR2 fusion in all tumors. None of the keratin-negative conventional GCT-ST showed the HMGA2-NCOR2 fusion (0/7). Metaplastic bone (4/9) and SATB2 expression (3/4) were frequent in keratin-negative conventional GCT-ST but were lacking in keratin-positive HMGA2-NCOR2 fusion-positive tumors. The distinctive immunophenotype and genotype of these tumors strongly suggest that they represent a discrete entity, differing from conventional GCT-ST and other osteoclast-rich morphologic mimics. Their natural history appears favorable, although a study of additional cases and longer follow-up are warranted.

scholarly journals Post-Denosumab-Treated Giant Cell Tumor of Bone: A Retrospective Histomorphological and Immunohistochemical Study

2021 ◽  
Vol 42 (04) ◽  
pp. 325-332
Author(s):  
Anvesh Kamble ◽  
Monalisa Hui ◽  
K. Nageshwara Rao ◽  
N. Ramakrishna ◽  
P. Chandrasekhar ◽  
...  
Keyword(s):  
Giant Cell ◽  
Stromal Cells ◽  
Mononuclear Cells ◽  
Giant Cells ◽  
Positive Staining ◽  
Low Grade ◽  
Nuclear Staining ◽  
Giant Cell Tumors ◽  
Woven Bone ◽  
Spindle Cells

Abstract Introduction Giant cell tumors of bone (GCTBs) are treated with surgery with or without local adjuvants. Denosumab is a human monoclonal antibody that has recently emerged to be effective in treating unresectable and recurrent GCTBs. Objective In this study, we analyzed the histomorphological changes in GCTB following treatment with denosumab. The expression of histone mutation H3.3G34W by immunohistochemistry (IHC) using mutant specific antibody was also determined. Materials and Methods Of the total 109 GCTBs encountered during the study period, 14 cases with neoadjuvant denosumab therapy were analyzed retrospectively. The post-treatment changes on histopathology were examined on routine hematoxylin and eosin-stained sections. IHC was done using antihistone H3.3G34 antibodies. Statistical analysis was limited to descriptive statistics. No hypothesis testing was performed. Results All these cases except three showed fibrosis with areas of hyalinization, prominent newly formed woven bone along with spindle cells in short fascicles and storiform pattern. There was complete absence and marked reduction in osteoclast-like giant cells in six and five patients, respectively. Only three patients showed a substantial amount of residual osteoclast-like giant cells. IHC with antihistone H3.3G34W antibody showed unequivocal nuclear positivity in the mononuclear cells in nine cases. The mononuclear cells rimming and entrapped within the woven bone were also positive on IHC. The spindle cells in the benign fibrous histiocytoma-like areas and septa of aneurysmal bone cyst-like areas also retained nuclear staining. Conclusion Awareness of post-denosumab-related histopathological changes are necessary to avoid misdiagnosis as fibroosseous lesion and low-grade central osteosarcoma. Expression of mutant-specific H3.3 G34W antibody suggests that the neoplastic stromal cells are largely retained after denosumab therapy. The positive staining of cells both within and those rimming the newly formed woven bone point toward osteoblastic phenotype of the neoplastic stromal cells.

Giant Cell Tumor of Soft Tissue with Pulmonary Metastases: Pathologic and Cytogenetic Study

2005 ◽  
Vol 8 (6) ◽  
pp. 718-724 ◽  
Author(s):  
Hua Guo ◽  
Roberto A. Garcia ◽  
Mary Ann Perle ◽  
John Amodio ◽  
M. Alba Greco
Keyword(s):  
Soft Tissue ◽  
Giant Cell Tumor ◽  
Giant Cell ◽  
Mononuclear Cells ◽  
Chromosomal Abnormalities ◽  
Cytogenetic Study ◽  
Giant Cells ◽  
Cell Tumor ◽  
General Acceptance ◽  
Telomeric Association

Giant cell tumor of soft tissue (GCTST) has gained general acceptance as an uncommon but distinct primary soft tissue tumor since it was first described in 1972. GCTST is predominantly seen in adults and typically shows uniformly dispersed osteoclast-like giant cells admixed with oval to polygonal mononuclear cells. It usually follows a benign clinical course, although the malignant variant has been described in cases in which the mononuclear cells demonstrate obvious dysplastic features. It is still not clear whether the two variants belong to the spectrum of the same tumor. No cytogenetic chromosomal abnormalities have been reported in the literature of GCTST. Interestingly, the osseous counterpart of giant cell tumor, which shares similar histologic features, quite often displays a telomeric association at the cytogenetic level, a finding that has never been reported in GCTST. We report the case of a 12-year-old girl with GCTST of the right leg that metastasized to the lung. Cytogenetic studies from the primary tumor showed the phenomenon of telomeric association involving multiple chromosomes.

scholarly journals Primary mediastinal giant cell tumor

Rare Tumors ◽  
2009 ◽  
Vol 1 (2) ◽  
pp. 141-142
Author(s):  
Judd Goldberg ◽  
Shameen Azizad ◽  
Jela Bandovic ◽  
Arfa Khan
Keyword(s):  
Soft Tissue ◽  
Giant Cell Tumor ◽  
Giant Cell ◽  
Mononuclear Cells ◽  
English Literature ◽  
Giant Cells ◽  
Posterior Mediastinum ◽  
Cell Tumor ◽  
Distinct Entity ◽  
Posterior Mediastinal

Giant cell tumor of soft tissue is a rare tumor first described by Salm and Sissons in 1972 as being a distinct entity. 1 Histologically, it is composed of multinucleated giant cells dispersed among mononuclear cells, and is indistinguishable from its bone equivalent. 2 The majority of these tumors have been reported to occur in the lower extremity. 2 , 3 We describe a case of giant cell tumor of soft tissue within the posterior mediastinum. The only other report of a primary mediastinal giant cell tumor of soft tissue in the English literature was published by Fu et al. in 2002, in which they described two patients with posterior mediastinal masses. 4

scholarly journals Gaint cell tumour of phalynx: have you seen it?

2020 ◽  
Vol 8 (6) ◽  
pp. 2309
Author(s):  
Nuthan Jagadeesh ◽  
Sachin H. G. ◽  
Vishwanath M. S. ◽  
Arjun Mandri
Keyword(s):  
Giant Cell ◽  
Mononuclear Cells ◽  
Histopathological Examination ◽  
Giant Cells ◽  
Pain Scale ◽  
Giant Cell Tumors ◽  
Foot Function Index ◽  
Function Index ◽  
Foot Function ◽  
Scale 8

Giant cell tumors are rarely seen in the foot. Only 1-2% cases of GCT occur in the foot. They can cause a significant amount of pain and deformity due to their aggressive and recurrent nature whenever it occurs in foot. We present an unusual case of a giant cell tumor of proximal phalynx of middle toe of left foot. 26 year old male came with complaints of pain and swelling over the middle toe of left foot since 6 months. Clinical and radiological features showed features consistent with GCT. Foot Function Index revealed a) Pain scale: 29 / 50 = 58%, b) Disability scale: 56 / 90 = 62%, c) Activity limitation scale: 8 / 30 = 27%. Authors performed enbloc resection with ray amputation of 3rd toe. Histopathological examination of excised specimen revealed classic findings of mononuclear cells with interspersed fibro-collagenous strands and numerous multinucleated osteoclast-like giant cells which confirmed our diagnosis. Patient was serially followed up and at 6 months followup, there were no signs of recurrence with markedly improved foot function index.

Giant cell tumor of soft tissue originating from the thyroid: a case report and literature review

2020 ◽  
Author(s):  
Jianrong Chen ◽  
Haiyong Zhang ◽  
Xiufang Li ◽  
Mengjun Hu ◽  
Huan Lei ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Giant Cell Tumor ◽  
Giant Cell ◽  
Soft Tissues ◽  
Mononuclear Cells ◽  
Giant Cells ◽  
Cell Tumor ◽  
Case Presentation ◽  
Uncommon Neoplasm ◽  
Atypical Mitosis

Abstract Background: Giant cell tumor of soft tissues (GCT-ST) is a low malignant uncommon neoplasm, with is histological and immunophenotype similar to that of GCT of bone. Primary giant cell tumor of soft tissue arising in the thyroid is exceedingly rare. Case presentation: We reported a new case of GCT-ST originating from the thyroid occurring in 69-year-old woman. Histologically, the tumor was composed of two morphological components, mononuclear cells admixed with multinucleated osteoclast-like giant cells. Tumor is devoid of atypia, pleomorphism, and atypical mitosis. Immunohistochemically, the tumor cells showed strongly positivity with antibodies to CD68, but were negative for AE1/AE3, EMA and additional muscle markers. Conclusions: Due to its rare occurrence, we analyzed the clinical features of patients with primary thyroid GCT-ST to summarize some of our experiences and conduct a literature. The interest of this case lies in the rarity of this entity, the difficulty in preoperative diagnosis, and the confusion with other malignancies.

Giant Cell Lesion of the Jaw. Case Report

1988 ◽  
Vol 74 (4) ◽  
pp. 479-484 ◽  
Author(s):  
Roberto Bondi ◽  
Carmelo Urso ◽  
Beatrice Santucci ◽  
Marco Santucci ◽  
Alessandro Marchesi ◽  
...  
Keyword(s):  
Giant Cell ◽  
Mononuclear Cells ◽  
Giant Cells ◽  
Cell Tumor ◽  
Long Bones ◽  
Giant Cell Reparative Granuloma ◽  
Giant Cell Tumors ◽  
Giant Cell Lesion ◽  
Characteristic Features ◽  
Microtubular Structures

A case is presented of a male patient affected by a giant cell lesion of the jaw, which had two recurrences in 8 years. Histologically, the lesion appeared to be composed of giant cells and mononuclear cells. Histoenzymatic study demonstrated acid phosphatase in both types of cells, and beta-glucuronidase in giant cells only. In some nuclei of giant cells, ultrastructural investigation showed filaments or microtubular structures of variable length, with irregular transverse periodicity, in addition to other expected findings. These characteristic features, found in giant cells of some giant cell tumors of the long bones, have never before been reported in a giant cell lesion of the jaw. The results are considered in order to assess the diagnosis, and the pathologic profiles of giant cell reparative granuloma, and of giant cell tumor are critically discussed.

scholarly journals Tenosynovial Giant Cell Tumor: Better molecular understanding revolutionizes treatment outcome

2016 ◽  
Vol 2 (1) ◽  
Author(s):  
Emad Shash
Keyword(s):  
Giant Cell ◽  
Mononuclear Cells ◽  
Response Rate ◽  
Inflammatory Cells ◽  
Giant Cells ◽  
High Response Rate ◽  
Giant Cell Tumors ◽  
Development Technology ◽  
Benign Nature ◽  
Stimulating Factor

<p>Tenosynovial giant cell tumors (TGCTs) are rare tumors, which are primarily treated via surgery with a low likelihood of metastasis. Although wide excision is an excellent choice for local control, tumors located within or close to major joints, along with the benign nature of the disease, make such resection impractical. An increase in local recurrences and the need for multiple surgical procedures promoted the interest in targeted-therapies for this disease. TGCTs contain a mixture of giant cells, mononuclear cells and inflammatory cells, with clonal cytogenetic abnormalities through rearrangements involving 1p11–13. Colony stimulating factor (<em>CSF1</em>) gene encodes for the ligand of CSF1 receptor (CSF1R). The <em>CSF1</em> gene is located at the chromosome 1p13 breakpoint and is found to be translocated in 63%–77% of patients with TGCTs. Selective CSF1R inhibitors yield high response rate and disease control, demonstrating the integration of a new drug development technology that could revolutionize treatment outcomes.  </p>

scholarly journals ADVANCED LYPOSARCOMA MYXOIDES OF THE EXTREMITY

2018 ◽  
pp. 030
Author(s):  
Milan Petrovic ◽  
Ljiljana Jeremic ◽  
Milan Radojkovic ◽  
Ivica Pejcic ◽  
Ivona Djordjevic ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Soft Tissue Tumors ◽  
Surrounding Tissue ◽  
Surgical Removal ◽  
Imaging Method ◽  
Low Grade ◽  
Mri Scan ◽  
Small Incidence ◽  
Magnetic Resonance Imaging Mri

Sarcomas are soft tissue tumors arising from primitive mesenchyme. Small incidence (4-5/100 000 in Europe) is the reason their pathogenesis is relatively unknown. Patient (38) complained of a growth on the upper part of right thigh, the size of a child’s head. A magnetic resonance imaging (MRI) scan was done and tumefaction was described: oval shape, 13.5 x 7.5 x 11cm in diameter, without infiltration of surrounding tissue. The tumor was surgically removed and was pathohistologically verified as low grade liposarcoma myxoides. After initial presentation the patient presented a series of recurrences and metastases in the abdominal wall, extremities and  liver. Soft tissue metastasis from the lower extremities to the liver occur in 0.5% of cases and they are usually small and multiple, as in the presented patient. The European Sarcoma Medical Oncologist’s guide recommends that every  extremity tumor larger than 5cm and suspicious of malignancy should be evaluated using biopsy and imaging methods. A biopsy should be done before excision under ultrasound or computerized tomography (CT) guidance with the goal of planning the best therapy protocol and prevention of a generalized disease with metastases. The recommended imaging method is an MRI scan, although sarcomas can have a benign presentation.  Standard therapy includes surgical resection with local radiotherapy.  Liposarcoma myxoides, a rare soft tissue tumor, demands biopsy and complete surgical removal with detailed and continuous postoperative imaging follow-up and oncological therapy. The therapeutic goal is to increase survival and preserve extremity function.

Giant Cell Granuloma of the Temporal Bone: A Case Report With Immunohistochemical, Enzyme Histochemical, and In Vitro Studies

2003 ◽  
Vol 127 (9) ◽  
pp. 1217-1220 ◽  
Author(s):  
Xue-Fei Tian ◽  
Tie-Jun Li ◽  
Shi-Feng Yu
Keyword(s):  
Giant Cell ◽  
Temporal Bone ◽  
Mononuclear Cells ◽  
Giant Cells ◽  
Tartrate Resistant Acid Phosphatase ◽  
Giant Cell Granuloma ◽  
Ki 67 ◽  
The Right ◽  
Histochemical Reactivity

Abstract A case of giant cell granuloma (GCG) that occurred in the right temporal bone is reported. The lesion showed histologic features identical to GCG. The multinuclear giant cells (MGCs) in the lesion showed strong reactivity with CD68, but patchy staining for myeloid/histiocyte antigen, α-1-antitrypsin, α-1-antichymotrypsine, and lysozyme. Activity of tartrate-resistant acid phosphatase was also consistently detected in the MGCs. Some of the mononuclear cells of the lesion exhibited similar immunocytochemical and histochemical reactivity as the MGCs. Ki-67 staining, however, was only detected in the mononuclear cells. The MGCs isolated from the lesion presented characteristic morphology of osteoclasts and possessed the ability to excavate bone in vitro. Thus, the MGCs in GCG appeared to express both macrophage- and osteoclast-associated phenotypes. The mononuclear cells were the major proliferative elements in the lesion and a subpopulation of these cells may represent precursors of the MGCs.

Giant Cell Poor Extra-Articular Diffuse-Type Tenosynovial Giant Cell Tumor With Extensive Desmin Expression: A Potential Diagnostic Pitfall With Cytogenetic Confirmation

2018 ◽  
Vol 27 (1) ◽  
pp. 59-61
Author(s):  
Liurka Lopez ◽  
Karen Schoedel ◽  
Ivy John
Keyword(s):  
Giant Cell Tumor ◽  
Giant Cell ◽  
Mononuclear Cells ◽  
Giant Cells ◽  
Cell Tumor ◽  
Diffuse Type ◽  
Tenosynovial Giant Cell Tumor ◽  
Diagnostic Pitfall

Diffuse-type tenosynovial giant cell tumor can rarely present as an entirely extra-articular mass, which can be misdiagnosed as a sarcoma especially when giant cells are absent, dominated by large dendritic mononuclear cells, and desmin expression is extensive.

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