Alveolar rhabdomyosarcoma of maxilla

Ananthaneni, Anuradha; Kuberappa, Puneeth Horatti; Srinivas, G; Kiresur, Mohammad Asif

doi:10.4103/0973-029x.180987

Cited by 11 publications

(3 citation statements)

References 10 publications

(15 reference statements)

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“…RMS is a malignant tumour that becomes invasive when cells fail to differentiate fully [24]. Although RMS is rare compared to other cancer types, it may develop in any part of the body, such as the head, neck, genitourinary tract or limbs [25].…”

Section: Discussionmentioning

confidence: 99%

CDK1 and CCNB1 as potential diagnostic markers of rhabdomyosarcoma: validation following bioinformatics analysis

Zhang

Jiang

et al. 2019

BMC Med Genomics

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BackgroundRhabdomyosarcoma (RMS), a common soft-tissue malignancy in pediatrics, presents high invasiveness and mortality. However, besides known changes in the PAX3/7-FOXO1 fusion gene in alveolar RMS, the molecular mechanisms of the disease remain incompletely understood. The purpose of the study is to recognize potential biomarkers related with RMS and analyse their molecular mechanism, diagnosis and prognostic significance.MethodsThe Gene Expression Omnibus was used to search the RMS and normal striated muscle data sets. Differentially expressed genes (DEGs) were filtered using R software. The DAVID has become accustomed to performing functional annotations and pathway analysis on DEGs.The protein interaction was constructed and further processed by the STRING tool and Cytoscape software. Kaplan–Meier was used to estimate the effect of hub genes on the ending of sarcoma sufferers, and the expression of these genes in RMS was proved by real-time polymerase chain reaction (RT-PCR). Finally, the expression of CDK1 and CCNB1 in RMS was validated by immunohistochemistry (IHC).ResultsA total of 1932 DEGs were obtained, amongst which 1505 were up-regulated and 427were down-regulated. Up-regulated genes were largely enriched in the cell cycle, ECM-receptor interaction, PI3K/Akt and p53 pathways, whilst down-regulated genes were primarily enriched in the muscle contraction process. CDK1, CCNB1, CDC20, CCNB2, AURKB, MAD2L1, HIST2H2BE, CENPE, KIF2C and PCNA were identified as hub genes by Cytoscape analyses. Survival analysis showed that, except for HIST2H2BE, the other hub genes were highly expressed and related to poor prognosis in sarcoma. RT-PCR validation showed that CDK1, CCNB1, CDC20, CENPE and HIST2H2BE were significantly differential expression in RMS compared to the normal control. IHC revealed that the expression of CDK1 (28/32, 87.5%) and CCNB1 (26/32, 81.25%) were notably higher in RMS than normal controls (1/9, 11.1%; 0/9, 0%). Moreover, the CCNB1 was associated with the age and location of the patient’s onset.ConclusionsThese results show that these hub genes, especially CDK1 and CCNB1, may be potential diagnostic biomarkers for RMS and provide a new perspective for the pathogenesis of RMS.

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Section: Discussionmentioning

confidence: 99%

CDK1 and CCNB1 as potential diagnostic markers of rhabdomyosarcoma: validation following bioinformatics analysis

Zhang

Jiang

et al. 2019

BMC Med Genomics

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“…When cells fail to properly differentiate, a malignant tumor such as RMS develops (20). The head and neck, genitourinary system, and extremities are all possible sites of RMS development (21), despite the disease's relative rarity in comparison to other cancers.…”

Section: Discussionmentioning

confidence: 99%

Critical miRNAs as a Biomarker in Development and Progression of Rhabdomyosarcoma

TarvijEslami

Nasirian

Moradi

et al. 2023

Preprint

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Rhabdomyosarcoma (RMS) is the most prevalent pediatric soft tissue malignancy. The early metastasis and recurrence of RMS, as well as the pain and bleeding induced by tumor compression, significantly compromise therapy efficacy and prognosis. In some cases, up to 37.7 percent of RMS spread to other parts of the body. Therefore, it is important to investigate the molecular pathways behind RMS in order to find a reliable target for the early detection and targeted treatment of this cancer. A microarray dataset of 63 RMS tissue samples and 63 control group samples was obtained and analyzed. GEO2R was able to detect genes that were differentially expressed miRNAs between rhabdomyosarcoma and normal tissue. Analysis of gene ontology ( molecular functions and biological processes) and the Kyoto Encyclopedia of Genes and Genomes pathways was conducted. Hub target genes of miRNAs were found through building an interaction network. Then we intersection between miRNAs RMS profile and miRnone of RMS. In RMS tumor tissues, 75 miRNAs were found to be up-regulated and 86 miRNAs were found to be down-regulated. According to the results of the gene ontology analysis, the functions of the cell cycle, retinal pigmented epithelium development, oxidative stress, cellular aging, and PI3K/AKT were the most significantly enriched. With 75 nodes and 1740 edges, hsa-miR-758-3p, hsa-miR-1908-3p, hsa-miR-127-5p and hsa-miR-6762-3p upregulated miRNAs and hsa-miR-1229-5p, hsa-miR-6831-5p, hsa-miR-4660, hsa-miR-3908, hsa-miR-1182, hsa-miR-6796-5p, hsa-miR-1180-3p, hsa-miR-519e-3p and hsa-miR-370-5p downregulated miRNAs were observed with miRnome of RMS. hsa-miR-410-3p were possibility role to invasion RMS tumor to retina. Our results show that RMS and normal tissue samples had varied miRNAs expression levels. As hsa-miR-410-3p and hsa-miR-127-5p have been hypothesized to play a role in the etiology of RMS, they should be studied in greater depth.

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“…RMS are very aggressive malignant mesenchymal tumors that arise from immature cells intended to form skeletal striated muscle [3]. The characteristic cells of this tumor are the rhabdomyoblasts.…”

Section: Discussionmentioning

confidence: 99%

Primary Rhabdomyosarcoma of the Pleura: A Case Report and Review of the Literature

Chekhlabi¹,

Toughza²,

Dini³

2021

Cureus

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Rhabdomyosarcoma is a malignant tumor of striated muscle tissue that can exceptionally present in the pleura. Its prognosis is generally poor. We report a case of an eight-year-old child admitted for a persistent dry cough which had progressed for three weeks, complicated by breathing difficulties and a deterioration in general condition. He had a history of recent contact with an uncle with pulmonary tuberculosis. Clinical examination on admission revealed right pleural effusion syndrome with moderate respiratory repercussion. The biological assessment shows moderate inflammation and a very high level of lactate dehydrogenase (LDH). Radiologically, there was abundant right pleurisy with intra-pleural nodular masses without ipsilateral pulmonary invasion or other distant localization. Pleural puncture reveals exudative lymphocytic fluid with negative tuberculous polymerase chain reaction (PCR) and atypical cells in cytology. Biopsy of the pleural mass showed pleural rhabdomyosarcoma of the alveolar type. The pet scan found bone metastases at two costal arches. After conditioning, the child received several courses of chemotherapy. The clinical and radiological outcome was favorable. This case is reported in view of its rarity and originality. We conclude that early diagnosis and treatment greatly improves the prognosis of this aggressive tumor.

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Alveolar rhabdomyosarcoma of maxilla

Cited by 11 publications

References 10 publications

CDK1 and CCNB1 as potential diagnostic markers of rhabdomyosarcoma: validation following bioinformatics analysis

CDK1 and CCNB1 as potential diagnostic markers of rhabdomyosarcoma: validation following bioinformatics analysis

Critical miRNAs as a Biomarker in Development and Progression of Rhabdomyosarcoma

Primary Rhabdomyosarcoma of the Pleura: A Case Report and Review of the Literature

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