Texas dad diagnosed with cancer that has only been reported in 400 adults over the last 30 years 

Antonio Martinez, of San Antonio, Texas, was diagnosed in June with rhabdomyosarcoma, a cancer in which tumors develop from muscle or fibrous tissue, and resists most treatments.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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AbstractBackground and aimSolid tumors, including pediatric malignancies, depend on angiogenesis for tumor growth, invasion, and metastases. We aimed to evaluate the prognostic impact of circulating endothelial cells (CECs) and endothelial progenitor cells (EPCs) on treatment response and survival of pediatric patients with solid tumors.MethodsA prospective study included 70 patients with different pediatric solid tumors treated with different types of chemotherapy and 20 age and sex-matched healthy children as controls. Blood samples collected at diagnosis then on day 7 and day 21 after chemotherapy. CECs and EPCs were ev...
Source: Cancer Immunology, Immunotherapy - Category: Cancer & Oncology Source Type: research
Abstract Soft tissue sarcomas in children are rare tumor, representing around 6 to 7% of children cancer. They spread mostly sporadically (90%) and therefore are rarely associated to an underlying constitutional genetic disease (10%). About half of those sarcomas are rhabdomyosarcomas and the others are a very heterogenous histologic group with various bio-pathologies and prognosis. Clinical presentation is mainly a soft tissue lump often difficult to distinguish from more frequent benign causes (malformative, infectious, benign, or pseudotumor). Inappropriate initial diagnosis work-up has a strong impact on soft ...
Source: Bulletin du Cancer - Category: Cancer & Oncology Authors: Tags: Bull Cancer Source Type: research
AbstractPurposeTo describe clinical characteristics and identify prognostic factors among men with testicular sarcoma, and to compare survival with other testicular cancers.MethodsThe surveillance, epidemiology, and end results (SEER) database (1975 –2016) was queried to identify adults with testicular sarcoma. Multivariable Cox proportional hazards, Fine and Gray competing-risks regression, propensity score matching, and Kaplan–Meier analyses were used.Results230 men were included in this study. Median age at diagnosis was 58  years (range 18–94), and median OS was 10.3 years. Patients with tum...
Source: International Urology and Nephrology - Category: Urology & Nephrology Source Type: research
ConclusionsEven if the lymph node staging was not always complete according to the RMS2005 protocol, node sampling changed lymph node status in a significant number of patients. Despite the higher rate of patients treated with locoregional radiotherapy, survival in RMS2005 did not improve compared to the previous European SIOP ‐MMT95 study.
Source: Cancer Medicine - Category: Cancer & Oncology Authors: Tags: ORIGINAL RESEARCH Source Type: research
Conclusion: To our knowledge, this is the first adult MYOD1-mutant sclerosing rhabdomyosarcoma studied cytogenetically. The only other reported sclerosing rhabdomyosarcoma with MYOD1 mutation and abnormal karyotype was pediatric. Since these tumors are highly aggressive, further studies unravelling their cytogenetic and molecular characteristics are warranted.
Source: Cancer Genomics and Proteomics - Category: Cancer & Oncology Authors: Tags: Experimental Studies Source Type: research
The objective of this study was to evaluate the cumulative incidence of cancer-specific death and competing risk of death among RMS patients after surgery and to build nomograms to predict overall survival (OS) and cancer-specific survival (CSS) based on a large population-based cohort. The records of 217 patients who were pathologically diagnosed with an orbital RMS between 1973 and 2015 from the Surveillance, Epidemiology, and End Results (SEER) database were retrospectively analyzed. The 10-, 20-, and 40-years OS rates and cancer-specific mortality were 82.5, 72.2, and 48.9%, respectively, and 14.8, 21.7, and 21.7%, res...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Abstract EpCAM is a transmembrane glycoprotein typically overexpressed in cancer of epithelial origin and mainly involved in the epithelial-to-mesenchymal transition (EMT) of tumor cells that spread and disseminate. Strategies for the targeting and capture of EpCAM-expressing tumor cells are showing promise in cancers prone to metastatize, both as diagnostic tools and potential therapies. Sarcomas are among the most aggressive tumors in children, with a common mesenchymal origin that comprises both soft tissue sarcomas (STS) and bone sarcomas. The aim of this study was to assess EpCAM expression in pediatric sarco...
Source: Translational Oncology - Category: Cancer & Oncology Authors: Tags: Transl Oncol Source Type: research
Cyclin-Dependent Kinases (CDKs) are well-known reliable targets for cancer treatment being often deregulated. Among them, since the transcription-associated CDK9 represents the sentry of cell transcriptional homeostasis, it can be a valuable target for managing cancers in which the transcriptional machinery is dysregulated by tumor-driver oncogenes. Here we give an overview of some natural compounds identified as CDK inhibitors with reported activity also against CDK9, that were taken as a model for the development of highly active synthetic anti-CDK9 agents. After, we summarize the data on CDK9 inhibition in a group of ra...
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
We report for the first time that GLI1 and GLI2 physically and functionally interact in cancer cells. GLI1 and GLI2 were shown to co-immunoprecipitate in PANC1 pancreatic cancer cells and RMS13 rhabdomyosarcoma cells. Mapping analysis demonstrated that the zinc finger domains of both proteins are required for their heteromerization. RNAi knockdown of either GLI1 or GLI2 inhibited expression of a number of well characterized GLI target genes (BCL2, MYCN PTCH2, IL7 and CCND1) in PANC1 cells, whereas PTCH1 expression was only inhibited by GLI1 depletion. qPCR screening of a large set of putative canonical and non-canonical He...
Source: The Biochemical Journal - Category: Biochemistry Authors: Tags: Biochem J Source Type: research
The NuRD complex subunit CHD4 is essential for fusion-positive rhabdomyosarcoma (FP-RMS) survival, but the mechanisms underlying this dependency are not understood. Here, a NuRD-specific CRISPR screen demonstrates that FP-RMS is particularly sensitive to CHD4 amongst the NuRD members. Mechanistically, NuRD complex containing CHD4 localizes to super-enhancers where CHD4 generates a chromatin architecture permissive for the binding of the tumor driver and fusion protein PAX3-FOXO1, allowing downstream transcription of its oncogenic program. Moreover, CHD4 depletion removes HDAC2 from the chromatin, leading to an increase and...
Source: eLife - Category: Biomedical Science Tags: Cancer Biology Source Type: research
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