357 results match your criteria Osteosarcoma Variants


Genome sequencing analysis of blood cells identifies germline haplotypes strongly associated with drug resistance in osteosarcoma patients.

BMC Cancer 2019 Apr 16;19(1):357. Epub 2019 Apr 16.

Inova Children's Hospital, Falls Church, VA, USA.

Background: Osteosarcoma is the most common malignant bone tumor in children. Survival remains poor among histologically poor responders, and there is a need to identify them at diagnosis to avoid delivering ineffective therapy. Genetic variation contributes to a wide range of response and toxicity related to chemotherapy. Read More

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http://dx.doi.org/10.1186/s12885-019-5474-yDOI Listing

Relationship of common variants in Interleukin 33 gene with susceptibility and prognosis of osteosarcoma in Han Chinese population.

J Cancer 2019 29;10(5):1138-1144. Epub 2019 Jan 29.

Department of Joint Surgery, Honghui Hospital, Xi'an Jiaotong University, Xi'an, China.

Osteosarcoma (OS) is one of the most common malignant bone tumors. Many previous studies have indicated that OS is a complex disease and that its development may be affected by multiple genetic factors, which may contribute to its carcinogenesis. The aim of the present study was to evaluate the relationship of with susceptibility and prognosis of OS in Han Chinese individuals. Read More

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http://dx.doi.org/10.7150/jca.29086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6400670PMC
January 2019
1 Read

The relationship between metastatic potential and in vitro mechanical properties of osteosarcoma cells.

Mol Biol Cell 2019 Mar 20;30(7):887-898. Epub 2019 Feb 20.

Biomechanics Laboratory, University Hospital Balgrist, University of Zürich, 8008 Zürich, Switzerland.

Osteosarcoma is the most frequent primary tumor of bone and is characterized by its high tendency to metastasize in lungs. Although treatment in cases of early diagnosis results in a 5-yr survival rate of nearly 60%, the prognosis for patients with secondary lesions at diagnosis is poor, and their 5-yr survival rate remains below 30%. In the present work, we have used a number of analytical methods to investigate the impact of increased metastatic potential on the biophysical properties and force generation of osteosarcoma cells. Read More

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http://dx.doi.org/10.1091/mbc.E18-08-0545DOI Listing
March 2019
2 Reads
4.466 Impact Factor

A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.

Cold Spring Harb Mol Case Stud 2019 Apr 1;5(2). Epub 2019 Apr 1.

Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.

Advancing the clinical utility of whole-exome sequencing (WES) for patients with suspected genetic disorders is largely driven by bioinformatics approaches that streamline data processing and analysis. Herein, we describe our experience with implementing a semiautomated and phenotype-driven WES diagnostic workflow, incorporating both the DRAGEN pipeline and the Exomiser variant prioritization tool, at an academic children's hospital with an ethnically diverse pediatric patient population. We achieved a 41% molecular diagnostic rate for 66 duo-, quad-, or trio-WES cases, and 28% for 40 singleton-WES cases. Read More

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http://dx.doi.org/10.1101/mcs.a003756DOI Listing
April 2019
1 Read

Integration of genomic copy number variations and chemotherapy-response biomarkers in pediatric sarcoma.

BMC Med Genomics 2019 Jan 31;12(Suppl 1):23. Epub 2019 Jan 31.

Herman B Wells Center for Pediatric Research, Department of Pediatrics, School of Medicine, Indiana University, Indianapolis, IN, 46202, USA.

Background: While most pediatric sarcomas respond to front-line therapy, some bone sarcomas do not show radiographic response like soft-tissue sarcomas (rhabdomyosarccomas) but do show 90% necrosis. Though, new therapies are urgently needed to improve survival and quality of life in pediatric patients with sarcomas. Complex chromosomal aberrations such as amplifications and deletions of DNA sequences are frequently observed in pediatric sarcomas. Read More

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http://dx.doi.org/10.1186/s12920-018-0456-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357363PMC
January 2019
2 Reads
2.873 Impact Factor

Paget's Disease of Bone.

Calcif Tissue Int 2019 Jan 23. Epub 2019 Jan 23.

Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

Paget's disease of bone (PDB) is a chronic and focal bone disorder, characterized by increased osteoclast-mediated bone resorption and a subsequent compensatory increase in bone formation, resulting in a disorganized mosaic of woven and lamellar bone at one or more affected skeletal sites. As a result, bone pain, noticeable deformities, arthritis at adjacent joints, and fractures can occur. In a small proportion of cases neoplastic degeneration in osteosarcoma, or, less frequently, giant cell tumor has been also described at PDB sites. Read More

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http://dx.doi.org/10.1007/s00223-019-00522-3DOI Listing
January 2019
11 Reads

The Clonal Evolution of Metastatic Osteosarcoma as Shaped by Cisplatin Treatment.

Mol Cancer Res 2019 Apr 16;17(4):895-906. Epub 2019 Jan 16.

Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, Tennessee.

To investigate the genomic evolution of metastatic pediatric osteosarcoma, we performed whole-genome and targeted deep sequencing on 14 osteosarcoma metastases and two primary tumors from four patients (two to eight samples per patient). All four patients harbored ancestral (truncal) somatic variants resulting in inactivation and cell-cycle aberrations, followed by divergence into relapse-specific lineages exhibiting a cisplatin-induced mutation signature. In three of the four patients, the cisplatin signature accounted for >40% of mutations detected in the metastatic samples. Read More

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http://mcr.aacrjournals.org/lookup/doi/10.1158/1541-7786.MCR
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http://dx.doi.org/10.1158/1541-7786.MCR-18-0620DOI Listing
April 2019
16 Reads

MTHFR variant is associated with high-dose methotrexate-induced toxicity in the Chinese osteosarcoma patients.

J Bone Oncol 2018 Nov 1;13:143-147. Epub 2018 Nov 1.

Department of Orthopedic Surgery, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Zhongshan Road 321, Nanjing 210008, China.

Background: The role of Methylene tetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms in the efficacy and toxicity of MTX-based therapy remains uncertain. Our purpose was to clarify whether these two polymorphisms are associated with the outcome of chemotherapy in a cohort of Chinese osteosarcoma (OS) patients treated by high-dose MTX.

Methods: 109 OS patients who had sequentially received high-dose MTX therapy were included in this study. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22121374183025
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http://dx.doi.org/10.1016/j.jbo.2018.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303521PMC
November 2018
12 Reads

Variants in the 14q32 miRNA cluster are associated with osteosarcoma risk in the Spanish population.

Sci Rep 2018 Oct 18;8(1):15414. Epub 2018 Oct 18.

Department of Genetics, Physical Anthropology and Animal Physiology, Faculty of Medicine and Nursery, UPV/EHU, Leioa, Spain.

Association studies in osteosarcoma risk found significant results in intergenic regions, suggesting that regions which do not codify for proteins could play an important role. The deregulation of microRNAs (miRNAs) has been already associated with osteosarcoma. Consequently, genetic variants affecting miRNA function could be associated with risk. Read More

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http://www.nature.com/articles/s41598-018-33712-4
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http://dx.doi.org/10.1038/s41598-018-33712-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194014PMC
October 2018
12 Reads

Genetic determinants of childhood and adult height associated with osteosarcoma risk.

Cancer 2018 Sep 12;124(18):3742-3752. Epub 2018 Oct 12.

Department of Epidemiology and Biostatistics, University of California at San Francisco, San Francisco, California.

Background: Although increased height has been associated with osteosarcoma risk in previous epidemiologic studies, to the authors' knowledge the relative contribution of stature during different developmental timepoints remains unclear. Furthermore, the question of how genetic determinants of height impact osteosarcoma etiology remains unexplored. Genetic variants associated with stature in previous genome-wide association studies may be biomarkers of osteosarcoma risk. Read More

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http://doi.wiley.com/10.1002/cncr.31645
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http://dx.doi.org/10.1002/cncr.31645DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6214707PMC
September 2018
4 Reads
4.890 Impact Factor

Systematic meta-analysis of genetic variants associated with osteosarcoma susceptibility.

Medicine (Baltimore) 2018 Sep;97(38):e12525

Department of Orthopedics, Beijing Friendship Hospital, Capital Medical University, Beijing, China.

Background: In the past decade, accumulated evidence has suggested that genetic variation is related to the pathogenesis of osteosarcoma. Although there are a large number of studies on the association between genetic variation and osteosarcoma, their results are inconsistent. To clarify these findings, we performed a systematic meta-analysis using allelic contrasts for each gene-specific single nucleotide variants with all available data in the field of osteosarcoma. Read More

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http://dx.doi.org/10.1097/MD.0000000000012525DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160068PMC
September 2018
1 Read

Variants of FasL and ABCC5 are predictive of outcome after chemotherapy-based treatment in osteosarcoma.

J Bone Oncol 2018 Sep 3;12:44-48. Epub 2018 May 3.

Department of Orthopedic Surgery, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Zhongshan Road 321, Nanjing 210008, China.

Objectives: Previous pharmacogenetics studies showed that genetic variants could be indicative of the response to chemotherapy. We aimed to investigate whether variants of FasL, MSH2, ABCC5, CASP3 and CYP3A4 are associated with the outcome after chemotherapy-based treatment in osteosarcoma.

Methods: 132 osteosarcoma patients who had completed the neoadjuvant chemotherapy in our center were included. Read More

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http://dx.doi.org/10.1016/j.jbo.2018.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066469PMC
September 2018
3 Reads

Two HLA Class II Gene Variants Are Independently Associated with Pediatric Osteosarcoma Risk.

Cancer Epidemiol Biomarkers Prev 2018 Oct 23;27(10):1151-1158. Epub 2018 Jul 23.

Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, California.

The genetic etiology of osteosarcoma remains poorly understood despite the publication of a genome-wide association study. Association between HLA genetic variants and risk of several cancers has been observed, but HLA variation is not well captured by standard SNP arrays. We genotyped 207 Californian pediatric osteosarcoma cases and 696 controls of European ancestry using a custom genome-wide array supplemented with approximately 6,000 additional probes across the MHC region. Read More

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http://dx.doi.org/10.1158/1055-9965.EPI-18-0306DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6170682PMC
October 2018
16 Reads

Detection of Somatic Structural Variants Enables Quantification and Characterization of Circulating Tumor DNA in Children With Solid Tumors.

JCO Precis Oncol 2018 5;2018. Epub 2018 Jul 5.

Dana-Farber Cancer Institute, Boston.

Objective: Liquid biopsies are being rapidly used in adult cancers as new biomarkers of disease. Circulating tumor DNA (ctDNA) levels have been reported to be proportional to disease burden, correlate with treatment response, and predict relapse. However, little is known about how frequently ctDNA is detectable in pediatric patients with solid tumors. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6049092PMC
http://dx.doi.org/10.1200/PO.17.00285DOI Listing
July 2018
8 Reads

Glucocorticoid Receptor Mutations and Hypersensitivity to Endogenous and Exogenous Glucocorticoids.

J Clin Endocrinol Metab 2018 Oct;103(10):3630-3639

National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina.

Background: The glucocorticoid receptor (GR) consists of two alternatively spliced isoforms: GRα, which activates gene transcription, and GRβ, a dominant-negative receptor. Theoretically, inactivating variants of GRβ could result in glucocorticoid hypersensitivity.

Design: A 46-year-old woman presented for evaluation of adrenal insufficiency prompted by low plasma cortisol levels and multiple unexplained symptoms but without clinical evidence of glucocorticoid insufficiency. Read More

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http://dx.doi.org/10.1210/jc.2018-00352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6179182PMC
October 2018
6 Reads

Possible roles of genetic variations in chemotherapy related cardiotoxicity in pediatric acute lymphoblastic leukemia and osteosarcoma.

BMC Cancer 2018 Jul 3;18(1):704. Epub 2018 Jul 3.

Department of Genetics, Cell- and Immunobiology, Semmelweis University, 1089 Nagyvárad tér 4., 6 em, Budapest, 611, Hungary.

Background: The treatment of acute lymphoblastic leukemia (ALL) and osteosarcoma (OSC) is very effective: the vast majority of patients recover and survive for decades. However, they still need to face serious adverse effects of chemotherapy. One of these is cardiotoxicity which may lead to progressive heart failure in the long term. Read More

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https://bmccancer.biomedcentral.com/articles/10.1186/s12885-
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http://dx.doi.org/10.1186/s12885-018-4629-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6029426PMC
July 2018
14 Reads

A subregion-based burden test for simultaneous identification of susceptibility loci and subregions within.

Genet Epidemiol 2018 10 22;42(7):673-683. Epub 2018 Jun 22.

Department of Biostatistics, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland.

In rare variant association studies, aggregating rare and/or low frequency variants, may increase statistical power for detection of the underlying susceptibility gene or region. However, it is unclear which variants, or class of them, in a gene contribute most to the association. We proposed a subregion-based burden test (REBET) to simultaneously select susceptibility genes and identify important underlying subregions. Read More

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http://dx.doi.org/10.1002/gepi.22134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6185783PMC
October 2018
19 Reads

The Alzheimer's disease-associated TREM2 gene is regulated by p53 tumor suppressor protein.

Neurosci Lett 2018 08 26;681:62-67. Epub 2018 May 26.

Center for Translational Research and Molecular Biology of Cancer, Maria Skłodowska-Curie Institute-Oncology Center, Gliwice Branch, 44-101 Gliwice, Poland. Electronic address:

TREM2 mutations evoke neurodegenerative disorders, and recently genetic variants of this gene were correlated to increased risk of Alzheimer's disease. The signaling cascade originating from the TREM2 membrane receptor includes its binding partner TYROBP, BLNK adapter protein, and SYK kinase, which can be activated by p53. Moreover, in silico identification of a putative p53 response element (RE) at the TREM2 promoter led us to hypothesize that TREM2 and other pathway elements may be regulated in p53-dependent manner. Read More

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http://dx.doi.org/10.1016/j.neulet.2018.05.037DOI Listing
August 2018
5 Reads

Fibrous Dysplasia: Clinicopathologic Presentation of 36 Cases.

Turk Patoloji Derg 2018 ;34(3):234-241

Department of Surgical Pathology, Uludag University Faculty of Medicine , BURSA, TURKEY.

Objective: Fibrous dysplasia is a slowly progressing bone lesion resulting from displacement of the normal medullary bone with abnormal fibroosseous tissue. The aim of this study was to assess the similarities and differences of our cases in relation to published reports.

Material And Method: In this study, the archives of the Uludag University Medical Faculty Department of Pathology were screened for fibrous dysplasia cases between 2004 and 2016. Read More

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http://dx.doi.org/10.5146/tjpath.2018.01428DOI Listing
December 2018
7 Reads

Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients.

Eur J Hum Genet 2018 08 30;26(8):1217-1221. Epub 2018 Apr 30.

Unité INSERMU830, Institut Curie, Paris, France.

Osteosarcoma is the most common malignant bone tumor in adolescents and young adults. Most osteosarcomas are sporadic but the risk of osteosarcoma is also increased by germline variants in TP53, RB1 and RECQL4 genes. ATRX germline variations are responsible for the rare genetic disorder X-linked alpha-thalassemia mental retardation (ATR-X) syndrome characterized by severe developmental delay and alpha-thalassemia but no obvious increased risk of cancer. Read More

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http://dx.doi.org/10.1038/s41431-018-0147-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057977PMC
August 2018
30 Reads

Incorporating Si N into PEEK to Produce Antibacterial, Osteocondutive, and Radiolucent Spinal Implants.

Macromol Biosci 2018 06 24;18(6):e1800033. Epub 2018 Apr 24.

Department of Immunology, Kyoto Prefectural University of Medicine, Kamigyo-ku, Kyoto, 602-8566, Japan.

Polyetheretherketone (PEEK) is a popular polymeric biomaterial which is primarily used as an intervertebral spacer in spinal fusion surgery; but it is developed for trauma, prosthodontics, maxillofacial, and cranial implants. It has the purported advantages of an elastic modulus which is similar to native bone and it can be easily formed into custom 3D shapes. Nevertheless, PEEK's disadvantages include its poor antibacterial resistance, lack of bioactivity, and radiographic transparency. Read More

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http://dx.doi.org/10.1002/mabi.201800033DOI Listing

Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma.

Eur J Hum Genet 2018 07 17;26(7):1026-1037. Epub 2018 Apr 17.

Medical Genetics, University of Siena, Siena, Italy.

Retinoblastoma is the most common eye cancer in children. Numerous families have been described displaying reduced penetrance and expressivity. An extensive molecular characterization of seven families led us to characterize the two main mechanisms impacting on phenotypic expression, as follows: (i) mosaicism of amorphic pathogenic variants; and (ii) parent-of-origin-effect of hypomorphic pathogenic variants. Read More

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http://www.nature.com/articles/s41431-017-0054-6
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http://dx.doi.org/10.1038/s41431-017-0054-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018773PMC
July 2018
14 Reads

Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.

Int J Mol Sci 2018 Apr 6;19(4). Epub 2018 Apr 6.

Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy.

Biallelic mutations in gene, a caretaker of the genome, cause Rothmund-Thomson type-II syndrome (RTS-II) and confer increased cancer risk if they damage the helicase domain. We describe five families exemplifying clinical and allelic heterogeneity of RTS-II, and report the effect of pathogenic variants by predictions and transcripts analyses. Complete phenotype of patients #39 and #42 whose affected siblings developed osteosarcoma correlates with their c. Read More

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http://dx.doi.org/10.3390/ijms19041103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5979380PMC
April 2018
13 Reads

Association between genetic variants in p53 binding sites and risks of osteosarcoma in a Chinese population: a two-stage case-control study.

Cancer Biol Ther 2018 Mar 29:1-14. Epub 2018 Mar 29.

a Department of Orthopedics , China-Japan Union Hospital Of Jilin University , Changchun130033, Jilin Province , China.

Osteosarcoma (OS) is one of the most common bone malignancies in children and adolescents. To date, inaugural mechanism of OS was considered as a complex process and was still not clear. The p53 gene, most important tumor suppressors, was associated with risk of many tumors, including OS. Read More

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http://dx.doi.org/10.1080/15384047.2018.1456607DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6301815PMC
March 2018
13 Reads
3.070 Impact Factor

[Benign and malignant giant-cell rich lesions of bone: Pathological diagnosis with special emphasis on recent immunohistochemistry and molecular techniques].

Ann Pathol 2018 Apr 23;38(2):92-102. Epub 2018 Mar 23.

Service d'anatomie pathologique et neuropathologie, department of pathology, CHU de Timone, Assistance publique-Hôpitaux de Paris (AP-HP), BMT-Timone 2, 2(e) étage, 264, rue Saint-Pierre, 13000 Marseille, France.

The infiltration by numerous osteoclastic giant cells is a frequent finding in bone tumors and pseudo-tumors. Pathologists must integrate clinical and radiological data to achieve a correct diagnosis in bone pathology. Benign giant-cell rich lesions of bone encompass giant cell tumor of bone, aneurysmal bone cyst, chondroblastoma, brown tumor and fibrous cortical defect/non-ossifying fibroma. Read More

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http://dx.doi.org/10.1016/j.annpat.2018.01.008DOI Listing
April 2018
64 Reads

Low-Grade Central Osteosarcoma: Report of Two Unusual Morphologic Variants.

Indian J Surg Oncol 2018 Mar 13;9(1):74-78. Epub 2017 Nov 13.

IBS Hospital, New Delhi, India.

Low-grade central osteosarcoma (LGCO) is a rare subtype of osteosarcoma, constituting < 2% of all osteosarcomas. If not treated appropriately, the tumor can recur with higher-grade disease. We report two cases of low-grade central osteosarcoma with unusual morphologic features and belonging to different age groups. Read More

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http://dx.doi.org/10.1007/s13193-017-0713-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5856698PMC
March 2018
35 Reads

UDiTaS™, a genome editing detection method for indels and genome rearrangements.

BMC Genomics 2018 03 21;19(1):212. Epub 2018 Mar 21.

Editas Medicine, 11 Hurley Street, Cambridge, MA, 02141, USA.

Background: Understanding the diversity of repair outcomes after introducing a genomic cut is essential for realizing the therapeutic potential of genomic editing technologies. Targeted PCR amplification combined with Next Generation Sequencing (NGS) or enzymatic digestion, while broadly used in the genome editing field, has critical limitations for detecting and quantifying structural variants such as large deletions (greater than approximately 100 base pairs), inversions, and translocations.

Results: To overcome these limitations, we have developed a Uni-Directional Targeted Sequencing methodology, UDiTaS, that is quantitative, removes biases associated with variable-length PCR amplification, and can measure structural changes in addition to small insertion and deletion events (indels), all in a single reaction. Read More

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http://dx.doi.org/10.1186/s12864-018-4561-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5861650PMC
March 2018
8 Reads

Detection of circulating tumor DNA in patients with osteosarcoma.

Oncotarget 2018 Feb 18;9(16):12695-12704. Epub 2018 Jan 18.

Division of Hematology/Oncology, Children's Hospital at Montefiore, Bronx, NY, USA.

Identification and quantification of somatic alterations in plasma-derived, circulating tumor DNA (ctDNA) is gaining traction as a non-invasive and cost effective method of disease monitoring in cancer patients, particularly to evaluate response to treatment and monitor for disease recurrence. To our knowledge, genetic analysis of ctDNA in osteosarcoma has not yet been studied. To determine whether somatic alterations can be detected in ctDNA and perhaps applied to patient management in this disease, we collected germline, tumor, and serial plasma samples from pediatric, adolescent, and young adult patients with osteosarcoma and used targeted Next Generation Sequencing (NGS) to identify somatic single nucleotide variants (SNV), insertions and deletions (INDELS), and structural variants (SV) in 7 genes commonly mutated in osteosarcoma. Read More

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http://dx.doi.org/10.18632/oncotarget.24268DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849166PMC
February 2018
2 Reads

More severe toxicity of genetic polymorphisms on MTHFR activity in osteosarcoma patients treated with high-dose methotrexate.

Oncotarget 2018 Feb 14;9(14):11465-11476. Epub 2017 Dec 14.

Musculoskeletal Tumor Center, Peking University People's Hospital, Beijing 100044, China.

5,10-Methylenetrahydrofolate reductase (MTHFR), a key enzyme for folate metabolism, catalyses the irreversible conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, which is located at the end of the short arm (1p36.3). Two common non-synonymous variants, the C677T (Ala222Val) and A1298C (Glu429Ala), were mainly described with decreased enzymatic activity and an alteration of intracellular folate distribution. Read More

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http://dx.doi.org/10.18632/oncotarget.23222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5837742PMC
February 2018
11 Reads

Parosteal osteosarcoma of mandible: A rare case report.

J Cancer Res Ther 2018 Jan-Mar;14(2):471-474

Department of Oral Medicine and Radiology, Subharti Dental College, Swami Vivekanand Subharti University, Meerut, Uttar Pradesh, India.

With the exception of multiple myelomas, osteosarcoma is the most frequently occurring primary malignant bone tumor with an overall incidence of 1:100,000/year. It has greatest predilection for the metaphyses, most frequently femur and tibia. However, osteosarcomas affecting the craniofacial bones are infrequent. Read More

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http://dx.doi.org/10.4103/0973-1482.176420DOI Listing
August 2018
10 Reads

Possible role of CYP2B6 genetic polymorphisms in ifosfamide-induced encephalopathy: report of three cases.

Fundam Clin Pharmacol 2018 Jun 25;32(3):337-342. Epub 2018 Jan 25.

Department of Pharmacology, Rouen University Hospital, 1 rue de Germont, F 76000, Rouen, France.

Ifosfamide (IFA) is a potent alkylating antitumoral agent, but its use is limited by neurological side effects. IFA is a racemic mixture of two enantiomeric forms, R-IFA and S-IFA with a stereoselective metabolism by CYP3A4 and CYP2B6, leading either to bioactive or to toxic pathways. In three consecutive cases of pediatric patients who exhibited IFA-induced encephalopathy (IIE), genotyping of clinically relevant single-nucleotide polymorphisms associated with decreased CYP3A4 and CYP2B6 activities was performed. Read More

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http://doi.wiley.com/10.1111/fcp.12345
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http://dx.doi.org/10.1111/fcp.12345DOI Listing
June 2018
29 Reads

Pediatric oncologist willingness to offer germline TP53 testing in osteosarcoma.

Cancer 2018 Mar 3;124(6):1242-1250. Epub 2018 Jan 3.

Division of Pediatrics, The University of Texas MD Anderson Cancer Center, Houston, Texas.

Background: Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by mutations in the tumor-suppressor gene TP53. Osteosarcoma is a sentinel cancer in LFS. Prior studies using Sanger sequencing platforms have demonstrated that 3% of individuals with osteosarcoma harbor a mutation in TP53. Read More

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http://dx.doi.org/10.1002/cncr.31212DOI Listing
March 2018
15 Reads

Diagnostic utility of histone H3.3 G34W, G34R, and G34V mutant-specific antibodies for giant cell tumors of bone.

Hum Pathol 2018 03 12;73:41-50. Epub 2017 Dec 12.

Department of Anatomic Pathology, Graduate of School of Medical Science, Kyushu University, 812-8582, Fukuoka, Japan.

Giant cell tumors of bone (GCTBs) are characterized by mononuclear stromal cells and osteoclast-like giant cells; up to 95% have H3F3A gene mutation. The RANKL inhibitor denosumab, when used for the treatment of GCTB, leads to histological changes such as new bone formation and giant cell depletion. Here we assessed the diagnostic utility of immunohistochemical staining with the antibodies against histone H3. Read More

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http://dx.doi.org/10.1016/j.humpath.2017.11.020DOI Listing
March 2018
15 Reads

Genome-wide association study identifies the GLDC/IL33 locus associated with survival of osteosarcoma patients.

Int J Cancer 2018 04 23;142(8):1594-1601. Epub 2017 Dec 23.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD.

Survival rates for osteosarcoma, the most common primary bone cancer, have changed little over the past three decades and are particularly low for patients with metastatic disease. We conducted a multi-institutional genome-wide association study (GWAS) to identify germline genetic variants associated with overall survival in 632 patients with osteosarcoma, including 523 patients of European ancestry and 109 from Brazil. We conducted a time-to-event analysis and estimated hazard ratios (HR) and 95% confidence intervals (CI) using Cox proportional hazards models, with and without adjustment for metastatic disease. Read More

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http://dx.doi.org/10.1002/ijc.31195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814322PMC
April 2018
27 Reads

Osteosarcoma of the jaws in Koreans: analysis of 26 cases.

J Korean Assoc Oral Maxillofac Surg 2017 Oct 26;43(5):312-317. Epub 2017 Oct 26.

Department of Oral and Maxillofacial Surgery, Yonsei University College of Dentistry, Seoul, Korea.

Objectives: In order to assess clinical behavior, response to treatment, and factors influencing prognosis of Korean patients with osteosarcoma of the jaws (OSJ).

Materials And Methods: A retrospective study of clinical, and pathological records of 26 patients with OSJ treated at the Department of Oral and Maxillofacial Surgery in Yonsei University Dental Hospital from 1990 to March 2017.

Results: Of 26 patients, there were 9 men (34. Read More

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http://dx.doi.org/10.5125/jkaoms.2017.43.5.312DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685860PMC
October 2017
35 Reads

Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome.

Curr Opin Oncol 2018 Jan;30(1):23-29

Team of Tumor Molecular Pathology and Biomarker, Institute for Advanced Bioscience, University Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Grenoble, France.

Purpose Of Review: Germline pathogenic TP53 mutation may predispose to multiple cancers but penetrance and cancer patterns remain incompletely documented. We have analyzed international agency for research on cancer TP53 database to reevaluate age and variant-dependent tumor patterns.

Recent Findings: Genome-wide studies suggest that germline variants are more frequent than estimated prevalence of Li-Fraumeni syndrome (LFS), suggesting that many carriers of potentially pathogenic mutations may not develop the syndrome. Read More

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http://dx.doi.org/10.1097/CCO.0000000000000423DOI Listing
January 2018
11 Reads

Preclinical Testing of an Oncolytic Parvovirus: Standard Protoparvovirus H-1PV Efficiently Induces Osteosarcoma Cell Lysis In Vitro.

Viruses 2017 10 17;9(10). Epub 2017 Oct 17.

Division of Tumor Virology, Program Infection, Inflammation and Cancer, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 242, 69120 Heidelberg, Germany.

Osteosarcoma is the most frequent malignant disease of the bone. On the basis of early clinical experience in the 1960s with H-1 protoparvovirus (H-1PV) in osteosarcoma patients, this effective oncolytic virus was selected for systematic preclinical testing on various osteosarcoma cell cultures. A panel of five human osteosarcoma cell lines (CAL 72, H-OS, MG-63, SaOS-2, U-2OS) was tested. Read More

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http://dx.doi.org/10.3390/v9100301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5691652PMC
October 2017
8 Reads

Exome array analysis identifies GPR35 as a novel susceptibility gene for anthracycline-induced cardiotoxicity in childhood cancer.

Pharmacogenet Genomics 2017 Dec;27(12):445-453

aHuman Genotyping Unit-CeGen bHuman Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO) cPediatric Solid Tumor Laboratory, Human Genetic Department, Research Institute of Rare Diseases, Instituto de Salud Carlos III dDepartment of Pediatric Hemato-Oncology eDepartment of Pediatric Cardiology, Hospital Universitario La Paz fDepartment of Pediatrics, Hospital Universitario Infanta Elena, Madrid gDepartment of Pediatrics, University Clinic of Navarra, Universidad de Navarra, Pamplona, Spain hDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology iDepartment of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK jDepartment of Electron Microscopy/Molecular Pathology, Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Objectives: Pediatric cancer survivors are a steadily growing population; however, chronic anthracycline-induced cardiotoxicity (AIC) is a serious long-term complication leading to considerable morbidity. We aimed to identify new genes and low-frequency variants influencing the susceptibility to AIC for pediatric cancer patients.

Patients And Methods: We studied the association of variants on the Illumina HumanExome BeadChip array in 83 anthracycline-treated pediatric cancer patients. Read More

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http://dx.doi.org/10.1097/FPC.0000000000000309DOI Listing
December 2017
22 Reads

Comparative proteomic investigation of metastatic and non-metastatic osteosarcoma cells of human and canine origin.

PLoS One 2017 14;12(9):e0183930. Epub 2017 Sep 14.

Department of Comparative Biosciences, Department of Biochemistry, Beckman Institute for Advanced Science, Division of Nutritional Sciences, Neuroscience Program and Department of Bioengineering, University of Illinois Urbana-Champaign, Urbana, Illinois, United States of America.

Osteosarcoma is the most common bone cancer in dogs and people. In order to improve clinical outcomes, it is necessary to identify proteins that are differentially expressed by metastatic cells. Membrane bound proteins are responsible for multiple pro-metastatic functions. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0183930PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5598957PMC
October 2017
6 Reads

Molecular mechanisms of pathogenesis in hepatocellular carcinoma revealed by RNA‑sequencing.

Mol Med Rep 2017 Nov 11;16(5):6674-6682. Epub 2017 Sep 11.

Department of Infectious Diseases, Baoji Municipal Central Hospital, Baoji, Shaanxi 721008, P.R. China.

The present study aimed to explore the underlying molecular mechanisms of hepatocellular carcinoma (HCC). RNA‑sequencing profiles GSM629264 and GSM629265, from the GSE25599 data set, were downloaded from the Gene Expression Omnibus database and processed by quality evaluation. GSM629264 and GSM629265 were from HCC and adjacent non‑cancerous tissues, respectively. Read More

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http://dx.doi.org/10.3892/mmr.2017.7457DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5865798PMC
November 2017
7 Reads

Histone 3.3 mutations in giant cell tumor and giant cell-rich sarcomas of bone.

Hum Pathol 2017 10 9;68:128-135. Epub 2017 Sep 9.

Section of Anatomic Pathology, Department of Surgery and Translational Medicine, University of Florence, 50134, Florence, Italy. Electronic address:

Mutually exclusive histone 3.3 gene mutations have been recognized in chondroblastoma and giant cell tumor of bone (GCTB), which may be useful for differential diagnostic purposes in morphologically ambiguous cases. Although more than 90% of GCTBs present histone 3. Read More

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http://dx.doi.org/10.1016/j.humpath.2017.08.033DOI Listing
October 2017
24 Reads

PD-1 and PD-L1 expression in bone and soft tissue sarcomas.

Pathology 2017 Aug 5;49(5):506-513. Epub 2017 Jul 5.

Department of Biomedical Sciences, Texas Tech University Health Sciences Center, Paul L. Foster School of Medicine, El Paso, Texas, United States.

PD-1 and its ligands have been shown to play a significant role in evasion of malignant tumour cells from the immune system. Last year, the Unites States Food and Drug Administration (FDA) approved anti-PD-1 inhibitors for treatment of non-small cell lung carcinoma and recently expanded the use of immunotherapy for metastatic urothelial cell carcinoma and Hodgkin lymphoma. However, studies on expression of PD-1 and its ligand in malignant bone and soft tissue sarcoma are sparse. Read More

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http://dx.doi.org/10.1016/j.pathol.2017.05.003DOI Listing
August 2017
27 Reads

Chronic Recurrent Multifocal Osteomyelitis: A Case Report with Atypical Presentation.

J Orthop Case Rep 2017 Jan-Feb;7(1):75-78

Department of Orthopaedics, Hospital Prof. Doutor Fernando Fonseca, Estrada IC19, 2720-276 Amadora, Portugal.

Introduction: Chronic recurrent multifocal osteomyelitis (CRMO) is a rare autoinflammatory condition. The clinical picture consists of sterile osteomyelitis, typically with multiple-site lesions in the metaphysis of long bones and not uncommonly, symmetrical bone involvement. It is a poorly understood entity, whose prognosis, etiology and ideal treatment are still controversial. Read More

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http://dx.doi.org/10.13107/jocr.2250-0685.69DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5458704PMC
June 2017
5 Reads

Genetic Association between ERCC2, NBN, RAD51 Gene Variants and Osteosarcoma Risk: a Systematic Review and Meta-Analysis

Asian Pac J Cancer Prev 2017 05 1;18(5):1315-1321. Epub 2017 May 1.

Department of Orthopedics, Afshar Hospital, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

Background: To date, only a few studies have investigated associations between ERCC2, NBN, and RAD51 variants and risk of developing osteosarcoma. In this systematic review and meta-analysis, we focused on clarifying links. Materials and Methods: We systematically searched PubMed, Google Scholar, and ISI web of knowledge databases to identify relevant studies. Read More

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http://dx.doi.org/10.22034/APJCP.2017.18.5.1315DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5555541PMC
May 2017
3 Reads

Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.

Br J Cancer 2017 Jun 18;116(12):1621-1626. Epub 2017 May 18.

Department of Human Genetics, McGill University, 1205 Dr. Penfield Avenue, Stewart Biology Building, Room N5/13, Montréal, QC H3A 1B1, Canada.

Background: Sarcomas are rare and heterogeneous cancers. We assessed the contribution of DICER1 mutations to sarcoma development.

Methods: The coding region of DICER1 was sequenced in 67 sarcomas using a custom Fluidigm Access Array. Read More

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http://dx.doi.org/10.1038/bjc.2017.147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518865PMC
June 2017
58 Reads

Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome.

Hum Mol Genet 2017 08;26(16):3046-3055

Department of Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine, Houston, TX 77030, USA.

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, small stature, sparse hair, skeletal abnormalities, increased risk of osteosarcoma, and decreased bone mass. To date, there has not been a comprehensive evaluation of the prevalence and extent of metabolic bone disease in RTS. Furthermore, the mechanisms that result in this phenotype are largely unknown. Read More

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http://dx.doi.org/10.1093/hmg/ddx178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886079PMC
August 2017
21 Reads

Osteosarcoma: A Diagnostic Dilemma.

J Exp Ther Oncol 2017 May;12(1):61-65

Department of Pedodontics and Preventive Dentistry Institute of Dental Sciences, Bareilly, UP, India.

Objective: Osteosarcoma is a primeval disease which is still partly understood. It is a malignancy of mesenchymal cells that have the capacity to generate osteoid or immature bone. There have been an abundance of debate and controversies about the nature, aggressiveness, behavior, and various treatment modalities of this entity. Read More

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May 2017
13 Reads

Chondroblastic and fibroblastic osteosarcoma of the jaws: Report of two cases and review of literature.

Indian J Dent Res 2017 Jan-Feb;28(1):100-104

Department of Oral Pathology, SRM Dental College, SRM University, Chennai, Tamil Nadu, India.

This study aims to report of two variants of gnathic osteosarcoma with highlights on the varied histopathological presentation of osteosarcomas (OS). OS present with diverse histological appearances. Despite significant advances in molecular pathogenesis and biomarkers, clinicopathologic correlation is still considered as the important criteria in diagnosis. Read More

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http://www.ijdr.in/text.asp?2017/28/1/100/203632
Publisher Site
http://dx.doi.org/10.4103/ijdr.IJDR_792_14DOI Listing
May 2018
3 Reads