Diagnosis of extraskeletal myxoid chondrosarcoma in the thigh using EWSR1-NR4A3 gene fusion: a case report

Kobayashi, Hiroki; Kikuta, Kazutaka; Sekita, Tetsuya; Susa, Michiro; Nishimoto, Kazumasa; Sasaki, Aya; Kameyama, Kaori; Sugita, Shintaro; Hasegawa, Tadashi; Nakamura, Masaya; Matsumoto, Morio; Morioka, Hideo

doi:10.1186/s13256-016-1113-2

Cited by 7 publications

(7 citation statements)

References 12 publications

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“…The paraffin-embedded debris tissues were deparaffinized thrice with xylene. Total RNA was extracted from the debris tissues using the phenol/chloroform extraction method as described previously 20,23 and extracted from cultured cells or fresh tissues using the TRIzol (Invitrogen, USA) according to the manufacturer’s instruction. For the gene-expression assay, 1 μg of total RNA was used to synthesize cDNA in a 20 μL total volume using a PrimeScript RT reagent kit (Promega, Madison, WI, USA) and 0.4 μL of cDNA product was used for quantitative PCR with the Platinum SYBR Green qPCR SuperMix-UDG kit.…”

Section: Methodsmentioning

confidence: 99%

miR-665 expression predicts poor survival and promotes tumor metastasis by targeting NR4A3 in breast cancer

Zhao

Tang

et al. 2019

Cell Death Dis

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Cancer metastasis is the main cause of death in breast cancer (BC) patients. Therefore, prediction and treatment of metastasis is critical for enhancing the survival of BC patients. In this study, we aimed to identify biomarkers that can predict metastasis of BC and elucidate the underlying mechanism of the functional involvement of such markers in metastasis. miRNA expression profile was analyzed using a custom microarray system in 422 BC tissues. The relationship between the upregulated miR-665, metastasis and survival of BC was analyzed and verified in another set of 161 BC samples. The biological function of miR-665 in BC carcinogenesis was explored with in vitro and in vivo methods. The target gene of miR-665 and its signaling cascade were also analyzed. There are 399 differentially expressed miRNAs between BC and noncancerous tissues, of which miR-665 is the most upregulated miRNA in the BC tissues compared with non-tumor breast tissues ( P < 0.001). The expression of miR-665 predicts metastasis and poor survival in 422 BC patients, which is verified in another 161 BC patients and 2323 BC cases from online databases. Ectopic miR-665 expression promotes epithelial–mesenchymal transition (EMT), proliferation, migration and invasion of BC cells, and increases tumor growth and metastasis of BC in mice. Bioinformatics, luciferase assay and other methods showed that nuclear receptor subfamily 4 group A member 3 (NR4A3) is a target of miR-665 in BC. Mechanistically, we demonstrated that miR-665 promotes EMT, invasion and metastasis of BC via inhibiting NR4A3 to activate MAPK/ERK kinase (MEK) signaling pathway. Our study demonstrates that miR-665 upregulation is associated with metastasis and poor survival in BC patients, and mechanistically, miR-665 enhances progression of BC via NR4A3/MEK signaling pathway. This study provides a new potential prognostic biomarker and therapeutic target for BC patients.

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Section: Methodsmentioning

confidence: 99%

miR-665 expression predicts poor survival and promotes tumor metastasis by targeting NR4A3 in breast cancer

Zhao

Tang

et al. 2019

Cell Death Dis

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“…However, EMC of the vulva is extremely rare, with only 14 cases reported in the literature. EMC is poorly characterized on MRI, as most myxoid tumors are characterized by soft tissue masses that show hyperintense signals on T2-weighted images [ 3 ]. Pathologically, EMC is considered a tumor of uncertain differentiation and is difficult to differentiate because the cartilage matrix is generally not observed.…”

Section: Discussionmentioning

confidence: 99%

“…It often presents as a single soft tissue lesion that grows slowly month by month and is 5-10 cm in diameter [ 2 ]. The lower extremities are a typical site of occurrence, and although they sometimes present with an invasive clinical course, they have shown potential for long-term survival [ 3 ]. We describe a case of EMC of the vulva that was controlled with radiation therapy for local recurrence.…”

Section: Introductionmentioning

confidence: 99%

Extraskeletal Myxoid Chondrosarcoma of the Vulva: A Case Report

Omote¹,

Taniguchi²,

Ide³

et al. 2023

Cureus

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Extraskeletal myxoid chondrosarcoma (EMC) of the vulva is extremely rare. We report our experience with a case of disease control by radiation therapy to a localized lesion of EMC. A 41-year-old woman presented to our clinic with a vulvar mass. Magnetic resonance imaging showed a 15 cm mass between the perineum and the medial thigh muscle. It was the "adductor magnus muscle." After the needle biopsy, a histopathological diagnosis of EMC was made. Tissue genomic analysis detected the EWSR1-NR4A3 fusion gene. A joint operation by the Department of Orthopedics, Gynecology, and Plastic Surgery was performed, which included a wide excision of the perineum, partial excision of the medial thigh muscle, and rectus abdominis valvuloplasty. Intraoperatively, pubic infiltration was detected. Postoperative pelvic radiotherapy was administered as adjuvant therapy. Recurrent common iliac lymph node metastases outside the irradiation field and multiple lung metastases were observed. Pazopanib was administered as adjuvant therapy. Pulmonary metastases were controlled, but the pelvic tumor had spread, so the patient underwent radiation therapy. After second-line chemotherapy with doxorubicin, left pleural effusion and mediastinal lymph node metastasis appeared, and third-line chemotherapy with eribulin mesylate was administered. The pleural effusion improved, but the patient developed cough again, and trabectedin was administered as the fourth chemotherapy. In this case, there was no local recurrence for three years after radiotherapy, suggesting the effectiveness of radiotherapy in local control.

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“…Gene analysis may be used to detect > 150 types of human disease, including cardiovascular system, cancer and other rare diseases (epilepsy and phenylketonuria) [14–16]. Gene analysis may be used for prenatal diagnosis for congenital heart disease via the molecular analysis of a splicing mutation (c.2639 + 1G > C) in the splice donor site of intron 22 of the tuberin (TSC2) gene in the mother and the fetus [17].…”

Section: Introductionmentioning

confidence: 99%

Use of magnetic resonance imaging combined with gene analysis for the diagnosis of fetal congenital heart disease

Wang¹,

Nie

Wang³

et al. 2019

BMC Med Imaging

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BackgroundFetal deformity is a disease caused by abnormal chromosome structure, which may be influenced by genetic factors as well as the maternal and external environment. Magnetic resonance imaging (MRI) may be used to effectively diagnose fetus deformities. However it has been reported that gene analysis is a more accurate diagnostic method. The aim of the present study was to investigate the effectiveness of MRI in combination with gene analysis for the diagnosis of fetal congenital heart disease, a form of fetus deformity.MethodsMRI, array comparative genome hybridization analysis and fluorescence in situ hybridization were used to analyze the effectiveness of the two methods in a total of 78 pregnant women with suspected fetal congenital heart disease.ResultsOur findings demonstrated that the combination of MRI and gene analysis resulted in significantly improved diagnostic accuracy, sensitivity and specificity for fetal congenital heart disease compared with either method alone. MRI combined with gene analysis confirmed 42 fetuses with pulmonary stenosis, 24 with aortic stenosis and 12 healthy fetuses, which was significantly improved compared with MRI or gene analysis alone. It was also observed that gene analysis was a more efficient method of diagnosis compared with MRI; however, the combination of the two methods was the most effective.ConclusionIn conclusion, the results of the present study suggest that MRI combined with gene analysis may be a more effective diagnostic method for fetal congenital heart disease compared with the current protocol.

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Diagnosis of extraskeletal myxoid chondrosarcoma in the thigh using EWSR1-NR4A3 gene fusion: a case report

Cited by 7 publications

References 12 publications

miR-665 expression predicts poor survival and promotes tumor metastasis by targeting NR4A3 in breast cancer

miR-665 expression predicts poor survival and promotes tumor metastasis by targeting NR4A3 in breast cancer

Extraskeletal Myxoid Chondrosarcoma of the Vulva: A Case Report

Use of magnetic resonance imaging combined with gene analysis for the diagnosis of fetal congenital heart disease

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