scholarly journals The Role of USP6 Gene Rearrangement by FISH Analysis in Nodular Fasciitis and Histological Mimics

2021 ◽  
Author(s):  
Yanfen Feng ◽  
Yu Zhang ◽  
Junpeng Lai ◽  
Zichen Zhang ◽  
Min Li ◽  
...  
Keyword(s):  
Gene Rearrangement ◽  
Spindle Cell ◽  
Spindle Cell Sarcoma ◽  
Specific Gene ◽  
Fish Analysis ◽  
Nodular Fasciitis ◽  
Gene Translocation ◽  
Malignant Lesions

Abstract Background: Nodular fasciitis (NF) is a common benign fibroblast and myofibroblast tumor. Although there have been constant concerns about its histological features and differential diagnosis, NF is still the most easily misdiagnosed mesenchymal lesions, especially over diagnosed as a sarcoma. USP6 gene rearrangement was reported recently to be a reproducible and specific gene change in NF, which strongly assists the diagnosis of NF. We aim to study USP6 Gene Rearrangement in NF and other spindle cell lesions mimicking NF, and to investigate the use of USP6 Gene Rearrangement in differentiating NF and its mimics.Methods: USP6 translocation by fluorescence in situ hybridization (FISH) was studied on 40 cases of NF and 54 cases of other spindle cell lesions (including 10 cases of spindle cell sarcoma) that mimic NF. Results: Thirty-four cases (85.5%) of NF showed USP6 gene translocation, including 10 cases which previously diagnosed or considered as malignant diseases by the referring pathologists. All of other 54 cases of spindle cell lesions were negative for USP6 translocation.Conclusions: USP6 gene rearrangement by FISH analysis is a reliable test for diagnosis of NF, and also a helpful adjunct to prevent over diagnosis of NF. Positive USP6 gene rearrangement by FISH could be a useful marker to exclude malignant lesions that mimics NF.

scholarly journals Breast MRI in Patients with Unilateral Bloody and Serous-Bloody Nipple Discharge: A Comparison with Galactography

2015 ◽  
Vol 2015 ◽  
pp. 1-9 ◽  
Author(s):  
Lucia Manganaro ◽  
Ilaria D’Ambrosio ◽  
Silvia Gigli ◽  
Francesca Di Pastena ◽  
Guglielmo Giraldi ◽  
...  
Keyword(s):  
Nipple Discharge ◽  
Breast Mri ◽  
Bloody Nipple Discharge ◽  
Ductal Cancer ◽  
Malignant Lesions ◽  
Mass Enhancement ◽  
Higher Sensitivity

Purpose. Assessing the role of breast MRI compared to galactography in patients with unilateral bloody or serous-bloody nipple discharge.Materials and Methods. Retrospective study including 53 unilateral discharge patients who performed galactography and MRI. We evaluated the capability of both techniques in identifying pathology and distinguishing between nonmalignant and malignant lesions. Lesions BIRADS 1/2 underwent follow-up, while the histological examination after surgery has been the gold standard to assess pathology in lesions BIRADS 3/4/5. The ROC analysis was used to test diagnostic MRI and galactography ability.Results. After surgery and follow-up, 8 patients had no disease (15%), 23 papilloma (43%), 11 papillomatosis (21%), 5 ductal cancer in situ (10%), and 6 papillary carcinoma (11%) diagnoses. Both techniques presented 100% specificity; MRI sensitivity was 98% versus 49% of galactography. Considering MRI, we found a statistical association between mass enhancement and papilloma (P<0.001; AUC 0.957; CI 0.888–1.025), ductal enhancement and papillomatosis (P<0.001; AUC 0.790; CI 0.623–0.958), segmental enhancement and ductal cancer in situ (P=0.007; AUC 0.750; CI 0.429–1.071), and linear enhancement and papillary cancer (P=0.011).Conclusions. MRI is a valid tool to detect ductal pathologies in patients with suspicious bloody or serous-bloody discharge showing higher sensitivity and specificity compared to galactography.

Benign Fibromyxoid Lesion of the Breast: A Distinct Entity From Benign Spindle Cell Tumors of the Mammary Stroma?

2018 ◽  
Vol 26 (6) ◽  
pp. 488-493 ◽  
Author(s):  
Christopher J. Schwartz ◽  
Cynthia A. Schandl ◽  
Jennifer Morse ◽  
Jonathan Ralston ◽  
Amy Rapkiewicz ◽  
...  
Keyword(s):  
Fluorescent In Situ Hybridization ◽  
Gene Rearrangement ◽  
Spindle Cell ◽  
Smooth Muscle Actin ◽  
Distinct Entity ◽  
Myxoid Stroma ◽  
Spindle Cells ◽  
Spindle Cell Proliferation ◽  
Rb Gene

Myxoid lesions of the breast can be diagnostically challenging entities. We report 4 cases of CD34+ fibromyxoid lesion that have been previously diagnosed as “benign myxoid lesion,” “nodular mucinosis,” or “mammary myofibroblastoma, myxoid type” on the basis of CD34-positivity. The lesions were microscopically well circumscribed and composed of a paucicellular spindle cell proliferation in a background of myxoid stroma. No epithelial component was identified. The spindle cells showed immunohistochemical reactivity for CD34 and smooth muscle actin. Based on morphologic and immunohistochemical similarities between these cases and myxoid myofibroblastoma, we compared 4 myxoid lesions with cases of typical myofibroblastoma, utilizing retinoblastoma (Rb) antibody and fluorescent in situ hybridization for 13q14 gene rearrangement (encoding the Rb gene). The myxoid lesions showed retention of Rb protein by immunohistochemistry, whereas Rb expression was lost in cases of myofibroblastoma. We identified loss of 13q14 in 3 of 4 cases of myofibroblastoma. Notably, 13q14 gene rearrangement was not observed in any of the myxoid lesions. Our data show that there is at least a subset of CD34+ fibromyxoid lesions that, despite overlapping morphologic and immunohistochemical phenotype and proposed common histogenesis with myofibroblastomas, is genetically distinct from the latter based on Rb analysis.

scholarly journals Giant Nodular Fasciitis Originating From The Humeral Periosteum: A Diagnostic Challenge

2020 ◽  
Author(s):  
Shili Yu ◽  
Jian Li ◽  
Meng Jia ◽  
Ping-Li Sun ◽  
Hongwen Gao
Keyword(s):  
Gene Rearrangement ◽  
Molecular Detection ◽  
Histopathological Examination ◽  
Low Grade ◽  
Superficial Fascia ◽  
Nodular Fasciitis ◽  
Diagnostic Challenge ◽  
Case Presentation ◽  
First Case

Abstract Background: Nodular fasciitis (NF) is a self-limiting, benign, fibroblastic, and myofibroblastic tumor that mostly occurs in the subcutaneous superficial fascia, although there are reports of NF occurrences at atypical sites, such as intraneural and intra-articular locations. However, NF originating from the appendicular periosteum is extremely rare, and NF lesions usually are smaller than 4 cm. A large NF lesion of periosteal origin can be misdiagnosed as a malignant bone tumor and may cause overtreatment.Case presentation: This case report presents a large NF that originated from the humeral periosteum in an adult and was initially diagnosed intraoperatively as low-grade sarcoma, but later diagnosed as NF after post-resection histopathological evaluation. Furthermore, fluorescence in situ hybridization analysis revealed a USP6 gene rearrangement that confirmed the diagnosis. To the best of our knowledge, this is the first case of NF in the humeral periosteum.Discussion and Conclusions: NF poses a diagnostic challenge especially occurrences at rare sites as it is often mistaken for a sarcoma. Postoperative histopathological examination of whole sectionscan be combined with immunohistochemical staining and, if necessary, the diagnosis can be confirmed by molecular detection, and thus help avoid overtreatment.

scholarly journals Ecology and Distribution of Thaumarchaea in the Deep Hypolimnion of Lake Maggiore

Archaea ◽  
2015 ◽  
Vol 2015 ◽  
pp. 1-11 ◽  
Author(s):  
Manuela Coci ◽  
Nina Odermatt ◽  
Michaela M. Salcher ◽  
Jakob Pernthaler ◽  
Gianluca Corno
Keyword(s):  
Fish Analysis ◽  
Ecological Role ◽  
Deep Lake ◽  
Lake Maggiore ◽  
Ammonia Oxidizing Archaea ◽  
Catalyzed Reporter Deposition ◽  
Card Fish ◽  
Abundance And Distribution

Ammonia-oxidizing Archaea (AOA) play an important role in the oxidation of ammonia in terrestrial, marine, and geothermal habitats, as confirmed by a number of studies specifically focused on those environments. Much less is known about the ecological role of AOA in freshwaters. In order to reach a high resolution at the Thaumarchaea community level, the probe MGI-535 was specifically designed for this study and applied to fluorescencein situhybridization and catalyzed reporter deposition (CARD-FISH) analysis. We then applied it to a fine analysis of diversity and relative abundance of AOA in the deepest layers of the oligotrophic Lake Maggiore, confirming previous published results of AOA presence, but showing differences in abundance and distribution within the water column without significant seasonal trends with respect to Bacteria. Furthermore, phylogenetic analysis of AOA clone libraries from deep lake water and from a lake tributary, River Maggia, suggested the riverine origin of AOA of the deep hypolimnion of the lake.

Synovial Sarcoma Mimicking Pleomorphic Hyalinizing Angiectatic Tumor of Soft Parts: A Case Report

2017 ◽  
Vol 26 (1) ◽  
pp. 73-77
Author(s):  
Neha Gupta ◽  
Samuel Kenan ◽  
Leonard B. Kahn
Keyword(s):  
Synovial Sarcoma ◽  
Fluorescent In Situ Hybridization ◽  
Spindle Cell ◽  
Low Grade ◽  
Unique Case ◽  
Gene Translocation ◽  
High Grade Sarcoma ◽  
Pleomorphic Hyalinizing Angiectatic Tumor ◽  
Histologic Types

Synovial sarcoma is a high-grade sarcoma commonly affecting young adults. The sites of involvement include soft tissue near joints, lung, pleura, mediastinum, larynx, kidney, and buttocks. Histologic types include monophasic, biphasic, and undifferentiated. We report a unique case of synovial sarcoma with low-grade histologic features mimicking pleomorphic hyalinizing angiectatic tumor (PHAT) with indolent behavior for a period of 10 years. The tumor showed angiectatic blood vessels with fibrinous cuffing, hypocellular and hypercellular spindle cell areas with rare mitoses, and focal atypia in a myxoid background. TLE1 was positive with SYT gene translocation detected on fluorescent in situ hybridization. Cases of myxoinflammatory fibroblastic sarcoma and myxofibrosarcoma have been reported as exhibiting histologic features of PHAT. However, to the best of our knowledge, cases of synovial sarcoma mimicking PHAT have not been reported.

Primary cutaneous Ewing sarcoma/primitive neuroectodermal tumour: a clinicopathological analysis of seven cases highlighting diagnostic pitfalls and the role of FISH testing in diagnosis

2009 ◽  
Vol 62 (10) ◽  
pp. 915-919 ◽  
Author(s):  
M V Shingde ◽  
M Buckland ◽  
K J Busam ◽  
S W McCarthy ◽  
J Wilmott ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
In Situ Hybridisation ◽  
Molecular Testing ◽  
Fish Analysis ◽  
Fluorescence In Situ Hybridisation ◽  
Clinicopathological Analysis ◽  
Blue Cell

Aims:To perform a clinicopathological analysis of a series of primary cutaneous Ewing sarcomas/primitive neuroectodermal tumours (ES/PNET) to highlight the pathological features, discuss the differential diagnosis, emphasise the role of molecular testing (particularly fluorescence in situ hybridisation, FISH) in diagnosis and outline the patients’ clinical course.Methods:Seven cases of primary cutaneous ES/PNET were identified from the authors’ consultation files.Results:The patients were aged 16–61 years (median 25). Five were female and two were male. Five cases involved the limbs and two the trunk. Five were initially misdiagnosed (three as carcinoma and two as melanoma). All cases were characterised histologically by sheet-like growth of small round cells with little cytoplasm and showed strong membranous staining for CD99 and positive but variable staining for FLI-1. Six patients showed an EWS rearrangement (five on FISH analysis and one on RT-PCR). All tumours were completely excised. Three patients received adjuvant chemotherapy, one of whom also received radiotherapy. Follow-up was available in all cases (range 11–57 months; median 41). No recurrences or metastases occurred.Conclusions:Although rare, primary cutaneous ES/PNET should be considered in the differential diagnosis of cutaneous “small blue cell tumours”. Immunostaining for FLI-1 and molecular testing for evidence of an EWS rearrangement are useful ancillary investigations to confirm the diagnosis. The prognosis of primary cutaneous ES/PNET appears to be more favourable than extracutaneous ES/PNET.

scholarly journals Plac1 Expression Pattern at the Mouse Fetomaternal Interface and Involvement in Trophoblast Differentiation

2017 ◽  
Vol 43 (5) ◽  
pp. 2001-2009 ◽  
Author(s):  
Yanli Gu ◽  
Junhui Wan ◽  
Lv Yao ◽  
Nan-Ni Peng ◽  
Wen-Lin Chang
Keyword(s):  
Expression Pattern ◽  
Giant Cells ◽  
Specific Gene ◽  
Trophoblast Differentiation ◽  
Spatiotemporal Expression ◽  
Trophoblast Stem Cell ◽  
Trophoblast Giant Cells ◽  
Ectoplacental Cone

Background/Aims: It is well known that Plac1 is a placenta-specific gene; however, its spatiotemporal expression pattern and exact role at t h e mouse fetomaternal interface r e m a i n s unclear. Methods: In situ hybridization (ISH) was used to localize the Plac1 mRNA at the mouse fetomaternal interface. A trophoblast stem cell (TS) differentiation model with Plac1 shRNA-overexpressing lentivirus was employed to investigate the possible role of Plac1 in placentation. Real-time RT-PCR was used to detect changes in gene expression. Results: Plac1 was exclusively expressed in the ectoplacental cone (EPC) as well as in 8.5 and 9.5 days post-coitum (dpc) embryos. Subsequently, Plac1 expression was abundant in the spongiotrophoblast layer and moderately in the labyrinth layer until 13.5 dpc, and declined thereafter. Interestingly, Plac1 was also expressed by secondary trophoblast giant cells and glycogen trophoblast cells, but not in primary trophoblast giant cells. Plac1 transcription was increased during the TS differentiation (P < 0.01), and knockdown of Plac1 significantly impaired TS differentiation. Conclusion: Plac1 is abundantly expressed at the fetomaternal interface and in all trophoblast subtypes except in primary trophoblast giant cells. Plac1 knockdown retarded the progress of TS differentiation, indicating that Plac1 is necessary for normal trophoblast differentiation into various trophoblast subpopulations.

scholarly journals Neoadjuvant Trabectedin plus Radiotherapy in High-Grade Sarcoma of the Leg: A Case Report

2018 ◽  
Vol 11 (2) ◽  
pp. 499-504
Author(s):  
António José Loureiro da Silva ◽  
Carolina Carvalho ◽  
Miguel Jacobetty ◽  
João Freitas ◽  
Ruben Fonseca ◽  
...  
Keyword(s):  
Spindle Cell ◽  
Progression Free Survival ◽  
Spindle Cell Sarcoma ◽  
First Line ◽  
Free Survival ◽  
High Grade Sarcoma ◽  
The Right ◽  
Disease Free ◽  
Line Chemotherapy

Here, we present the case of a 78-year-old male patient with undifferentiated spindle cell sarcoma on the posteromedial surface of the right leg who experienced a long-lasting progression-free survival. Due to an underlying cardiac disease, the patient was not suitable for anthracyclines. In September 2015, he received first-line chemotherapy with trabectedin (Yondelis®) at the approved dosage and regimen – concomitant with external radiotherapy (RT). After the first 9 cycles of trabectedin plus RT given in the neoadjuvant setting, the patient underwent surgical resection. At that stage, we observed a very good pathological response with 80% of necrotic area. The patient resumed the therapy with trabectedin; however, approximately 5 months later, we observed a new nodular heterogeneous lesion with ill-defined margins in the right leg and suggestive of tumor relapse. Subsequently an above-the-knee amputation was performed, and the patient resumed his trabectedin therapy with the same dosage and regimen. In January 2018, almost 2 1/2 years after the start of trabectedin treatment and 30+ cycles of trabectedin, the patient is locoregionally and distant metastatically disease-free. Currently, the treatment with trabectedin is maintained without any significant serious toxicity. Future clinical trials are needed to gain additional insights into the role of trabectedin maintenance therapy until disease progression in the neoadjuvant setting and to identify predictive and prognostic criteria for response to trabectedin in patients with advanced sarcoma.

scholarly journals Role of placenta-specific protein 1 in trophoblast invasion and migration

Reproduction ◽  
2014 ◽  
Vol 148 (4) ◽  
pp. 343-352 ◽  
Author(s):  
Wen-Lin Chang ◽  
Qing Yang ◽  
Hui Zhang ◽  
Hai-Yan Lin ◽  
Zhi Zhou ◽  
...  
Keyword(s):  
First Trimester ◽  
Specific Protein ◽  
Trophoblast Invasion ◽  
Specific Gene ◽  
Invasion And Migration ◽  
Functional Studies ◽  
And Migration ◽  
Extravillous Trophoblasts

Placenta-specific protein 1 (PLAC1), a placenta-specific gene, is known to be involved in the development of placenta in both humans and mice. However, the precise role of PLAC1 in placental trophoblast function remains unclear. In this study, the localization of PLAC1 in human placental tissues and its physiological significance in trophoblast invasion and migration are investigated by technical studies including real-time RT-PCR, in situ hybridization, immunohistochemistry, and functional studies by utilizing cell invasion and migration assays in the trophoblast cell line HTR8/SVneo as well as the primary inducing extravillous trophoblasts (EVTs). The results show that PLAC1 is mainly detected in the trophoblast columns and syncytiotrophoblast of the first-trimester human placental villi, as well as in the EVTs that invade into the maternal decidua. Knockdown of PLAC1 by RNA interference significantly suppresses the invasion and migration of HTR8/SVneo cells and shortens the distance of the outgrowth of the induced EVTs from the cytotrophoblast column of the explants. All the above data suggests that PLAC1 plays an important role in human placental trophoblast invasion and migration.

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