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Background and Objectives: Tenosynovial giant cell tumor (TGCT) is a rare, locally aggressive, benign neoplasm arising from the synovium of joints, tendon sheaths, and bursa. There are two main subtypes of TGCT: localized-type TGCT(L-TGCT) and diffuse-type TGCT (D-TGCT). While surgical excision is still considered the gold standard of treatment, the high recurrence rate, especially for D-TGCT, may suggest the need for other treatment modalities. Materials and Methods: This study reviews current literature on the current treatment modalities for refractory-relapsed TGCT disease. Results: The gold standard of treatment modality in TGCT remains surgical excision of the tumor nevertheless, the elevated recurrence rate and refractory disease, particularly in D-TGCT indicates and underscores the necessity for additional treatment alternatives. Conclusions: TGCT is a benign tumor with inflammatory features and a potential destructive and aggressive course that can lead to significant morbidity and functional impairment with a high impact on quality of life. Surgical resection remains the gold standard current treatment and the optimal surgical approach depends on the location and extent of the tumor. Systemic therapies have been recently used for relapsed mainly cases.

The present study aimed to investigate the value of magnetic resonance imaging (MRI) in the diagnosis of giant cell tumor of the tendon sheath (GCTTS), including localized (L-) and diffuse (D-) types. A total of 38 patients with GCTTS, including 31 with L-GCTTS and 7 with D-GCTTS, diagnosed by surgery and pathology, were retrospectively analyzed. All patients underwent MRI examination. Of the 31 patients with L-GCTTS, the tumors were located in the hand and wrist (18 patients), the ankle and foot (10 cases), the knee joint (2 cases) and the temporomandibular joint (1 case). All 31 lesions were either located in relation to a tendon or were partially/completely enveloping it and all were well marginated. With respect to the 7 D-GCTTS patients, the tumors were located in the ankle and foot (6 cases) or the hand and wrist (1 cases). All 7 lesions presented as an aggressive soft tissue mass infiltrating the tendon sheath and adipose tissue around the joint. The characteristic internal signal of GCTTS, including L-GCTTS and D-GCTTS, was demonstrated by MRI examination. MRI is currently the optimal modality for preoperative assessment of tumor size, extent and invasion of adjacent joint and tenosynovial space.

Background Tenosynovial giant cell tumor (TSGCT) is a benign fibrohistiocytic tumor that affects the synovium of joints, bursa, and tendon sheaths and is categorized into localized TSGCT (LTSGCT) and diffuse TSGCT (DTSGCT). LTSGCT and DTSGCT are characterized by recurrent fusions involving the colony-stimulating factor 1 ( CSF1 ) gene and its translocation partner collagen type VI alpha 3 chain. The fusion gene induces intratumoral overexpression of CSF1 mRNA and CSF1 protein. CSF1 expression is a characteristic finding of TSGCT and detection of CSF1 mRNA and CSF1 protein may be useful for the pathological diagnosis. Although there have been no effective anti-CSF1 antibodies to date, in situ hybridization (ISH) for CSF1 mRNA has been performed to detect CSF1 expression in TSGCT. We performed CSF1 immunohistochemistry (IHC) using anti-CSF1 antibody (clone 2D10) in cases of TSGCT, giant cell-rich tumor (GCRT), and GCRT-like lesion and verified its utility for the pathological diagnosis of TSGCT. Methods We performed CSF1 IHC in 110 cases including 44 LTSGCTs, 20 DTSGCTs, 1 malignant TSGCT (MTSGCT), 10 giant cell tumors of bone, 2 giant cell reparative granulomas, 3 aneurysmal bone cysts, 10 undifferentiated pleomorphic sarcomas, 10 leiomyosarcomas, and 10 myxofibrosarcomas. We performed fluorescence ISH (FISH) for CSF1 rearrangement to confirm CSF1 expression on IHC in TSGCTs. We considered the specimens to have CSF1 rearrangement if a split signal was observed in greater than 2% of the tumor cells. Results Overall, 50 of 65 TSGCT cases, including 35 of the 44 LTSGCTs and 15 of the 20 DTSGCTs, showed distinct scattered expression of CSF1 in the majority of mononuclear tumor cells. MTSGCT showed no CSF1 expression. Non-TSGCT cases were negative for CSF1. FISH revealed CSF1 rearrangement in 6 of 7 CSF1-positive cases on IHC. On the other hand, FISH detected no CSF1 rearrangement in all CSF1-negative cases on IHC. Thus, the results of IHC corresponded to those of FISH. Conclusion We revealed characteristic CSF1 expression on IHC in cases of TSGCT, whereas the cases of non-TSGCT exhibited no CSF1 expression. CSF1 IHC may be useful for differentiating TSGCTs from histologically mimicking GCRTs and GCRT-like lesions.

Abstract—The existence of Rayleigh waves propagating along the periodic boundary of a homogeneous isotropic half-plane with an arbitrary edge profile is proved. It is shown that a periodic family of cracks perpendicular to the straight boundary of the half-plane, with an increase in the lengths, is capable of forming an arbitrary predetermined number of linearly independent localized waves in the low-frequency range of the spectrum including the standing ones, which transfer no energy along the edge. The results are obtained by means of variational and asymptotic methods of spectral analysis of a model problem in a half-strip with a curved end and with quasi-periodicity conditions on the lateral sides.

Pigmented villonodular synovitis (PVNS) arising from the elbow joint is extremely rare; only 24 cases have been reported. It is extremely difficult to differentiate PVNS from other soft tissue tumors on the basis of imaging findings alone. Therefore, a biopsy is required for definitive diagnosis. A 20-year-old female reported a mass on her right elbow. Physical examination revealed a tumor measuring 3.0x3.0 cm. Magnetic resonance imaging (MRI) revealed that the signal intensity of the tumor was isointense to muscle on T1-weighted images; however, it was hyper- or isointense to muscle on T2-weighted images. In images obtained by gadolinium-enhanced MRI, the margin of the tumor was well-contrasted. Thallium (Tl)-201 scintigrams revealed an abnormal accumulation in the area of the mass in the early and delayed phases. On the basis of clinical findings, imaging characteristics and incision biopsy results, localized PVNS was diagnosed and marginal excision was performed. We thus identified an extremely rare case of PVNS arising from the elbow joint. When interpreting Tl-201 images for the assessment of bone and soft tissue lesions, it is important to recognize PVNS as a condition that simulates malignant tumors. Furthermore, PVNS should be considered in the differential diagnosis when increased Tl-201 activity is closely related to the joint. MRI aids in the differentiation by demonstrating features of hemosiderin degradation products. These findings are likely to be extremely helpful in the differential diagnosis of bone and soft tissue tumors.

Segmental neurofibromatosis or type V neurofibromatosis is a rare genodermatosis characterized by neurofibromas, café-au-lait spots and neurofibromas limited to a circumscribed body region. The disease may be associated with systemic involvement and malignancies. The disorder has not been reported yet in the Polish medical literature. A 63-year-old Caucasian woman presented with a 20-year history of multiple, flesh colored, dome-shaped, soft to firm nodules situated in the right lumbar region. A histopathologic evaluation of three excised tumors revealed neurofibromas. No neurological and ophthalmologic symptoms of neurofibromatosis were diagnosed.

A local-orbital-based ab initio approach to calculate correlation effects on quasi-particle energies in insulating solids is presented. The use of localized Wannier-type Hartree–Fock orbitals allows correlation effects to be efficiently assessed. First a Green's function approach based on exact diagonalization is introduced and this is combined with an incremental scheme, while subsequently different levels of perturbative approximations are derived from the general procedure. With these methods the band structure of LiF is calculated and good agreement with experiment is found. By comparing the different approximations proposed, including the exact diagonalization procedure, their relative quality is established.

ObjectivesPlasmacytoid dendritic cells (pDC) have been implicated in the pathogenesis of autoimmune diseases, such as scleroderma (SSc). However, this has been derived from indirect evidence using ex vivo human samples or mouse pDC in vivo. We have developed human-specific pDC models to directly identify their role in inflammation and fibrosis, as well as attenuation of pDC function with BDCA2-targeting to determine its therapeutic application.MethodsRNAseq of human pDC with TLR9 agonist ODN2216 and humanised monoclonal BDCA2 antibody, CBS004. Organotypic skin rafts consisting of fibroblasts and keratinocytes were stimulated with supernatant from TLR9-stimulated pDC and with CBS004. Human pDC were xenotransplanted into Nonobese diabetic/severe combined immunodeficiency (NOD SCID) mice treated with Aldara (inflammatory model), or bleomycin (fibrotic model) with CBS004 or human IgG control. Skin punch biopsies were used to assess gene and protein expression.ResultsRNAseq shows TLR9-induced activation of human pDC goes beyond type I interferon (IFN) secretion, which is functionally inactivated by BDCA2-targeting. Consistent with these findings, we show that BDCA2-targeting of pDC can completely suppress in vitro skin IFN-induced response. Most importantly, xenotransplantation of human pDC significantly increased in vivo skin IFN-induced response to TLR agonist and strongly enhanced fibrotic and immune response to bleomycin compared with controls. In these contexts, BDCA2-targeting suppressed human pDC-specific pathological responses.ConclusionsOur data indicate that human pDC play a key role in inflammation and immune-driven skin fibrosis, which can be effectively blocked by BDCA2-targeting, providing direct evidence supporting the development of attenuation of pDC function as a therapeutic application for SSc.

Juvenile scleroderma (JS), comprising localized (JLSd) and systemic (JSSc) forms, is a rare autoimmune disorder. This study investigated associations of polymorphisms in extracellular matrix (MMP1, MMP9) and vascular homeostasis (NOS3) genes with JS risk and immunological phenotypes. A case–control study involved 215JS patients (194 JLSd, 21 JSSc) and 72 controls. SNPs (MMP1 rs1799750, MMP9 rs3918242, NOS3 rs1799983) were genotyped using real-time PCR followed by minisequencing and mass spectrometric analysis of reaction products. Associations with disease risk, subtypes, and immunological markers were analyzed statistically. The MMP9 (rs3918242) CT genotype was significantly associated with JLSd (OR = 2.23, 95% CI: 1.14–4.37, p = 0.022), showing a trend in linear facial forms. The NOS3 (rs1799983) GG genotype demonstrated a trend toward association with JSSc (OR = 2.61, 95% CI: 0.92–7.37, p = 0.065). No significant associations were found for rs1799750 MMP1 and risk of disease development. The MMP9 risk genotype did not correlate with scleroderma-specific autoantibodies, while the NOS3 GG genotype was associated with lower serum levels of anti-collagen IV antibodies (p = 0.039). Genetic associations differ for JS subtypes: MMP9 with JLSd and NOS3 with JSSc. Children with CT polymorphism MMP9 (rs3918242) and with NOS3 (rs1799983) GG genotype were found to be genetically predisposed for the development of JS.

Localized scleroderma (LSc), a connective tissue disorder restricted to the skin and subcutaneous tissue, is characterized by skin fibrosis due to an excessive deposition of types I collagen. The mechanism of such fibrosis is still unknown, but epigenetics may play some roles in the excessive collagen expression. In the present study, we investigated the mechanism of fibrosis seen in LSc, focusing on microRNA (miRNA). miRNA expression was determined by PCR array, real-time PCR, and in situ hybridization. The function of miRNA was evaluated using specific inhibitor. Immunoblotting was performed to detect α2(I) collagen protein. PCR array analysis using tissue miRNA demonstrated miR-7 level was significantly decreased in LSc skin as well as keloid tissue compared to normal skin in vivo. In situ hybridization also showed miR-7 expression in dermal fibroblasts was decreased in LSc dermis. The transfection of specific inhibitor for miR-7 into cultured normal dermal fibroblasts resulted in the up-regulation of α2(I) collagen protein in vitro. Also, the serum levels of miR-7 were significantly decreased in LSc patients compared with healthy controls, but serum miR-29a levels not. Systemic or local down-regulation of miR-7 may contribute to the pathogenesis of LSc via the overexpression of α2(I) collagen, and serum miR-7 may be useful as a disease marker. Investigation of the regulatory mechanisms of LSc by miRNA may lead to new treatments by the transfection into the lesional skin of this disease.