413 results match your criteria Osteosarcoma Variants


Novel pathogenic variants in the RECQL4 gene causing Rothmund-Thomson syndrome in three Chinese patients.

J Dermatol 2021 Jun 22. Epub 2021 Jun 22.

Department of Dermatology, Shunyi Maternal and Children's Hospital of Beijing Children's Hospital, Beijing, China.

Rothmund-Thomson syndrome (RTS) is a rare autosomal-recessive disorder characterized by poikiloderma, short stature, sparse hair, skeletal abnormalities, and cancer predisposition. Mutations in ANAPC1 or RECQL4 have been identified to underlie RTS. Either Sanger sequencing or next-generation sequencing (NGS) was performed for three Chinese RTS patients. Read More

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Genomic and Transcriptomic Characterization of Canine Osteosarcoma Cell Lines: A Valuable Resource in Translational Medicine.

Front Vet Sci 2021 17;8:666838. Epub 2021 May 17.

Department of Veterinary Science, University of Turin, Turin, Italy.

Osteosarcoma (OSA) represents the most common primary bone tumor in dogs and is characterized by a highly aggressive behavior. Cell lines represent one of the most suitable and reproducible pre-clinical models, and therefore the knowledge of their molecular landscape is mandatory to investigate oncogenic mechanisms and drug response. The present study aims at determining variants, putative driver genes, and gene expression aberrations by integrating whole-exome and RNA sequencing. Read More

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Pediatric Head and Neck Tumors Associated with Li-Fraumeni Syndrome.

Ann Otol Rhinol Laryngol 2021 May 10:34894211014786. Epub 2021 May 10.

Department of Otolaryngology-Head and Neck Surgery, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.

Introduction: Cancer predisposition syndromes are germline pathogenic variants in genes that greatly raise the risk of developing neoplastic diseases. One of the most well-known is Li-Fraumeni syndrome (LFS), which is due to pathogenic variants in the gene. Children with LFS have higher risks for multiple malignancies before adulthood, often with rare and aggressive subtypes. Read More

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MYC amplifications are common events in childhood osteosarcoma.

J Pathol Clin Res 2021 May 9. Epub 2021 May 9.

Wellcome Sanger Institute, Hinxton, UK.

Osteosarcoma, the most common primary malignant tumour of bone, affects both children and adults. No fundamental biological differences between paediatric and adult osteosarcoma are known. Here, we apply multi-region whole-genome sequencing to an index case of a 4-year-old child whose aggressive tumour harboured high-level, focal amplifications of MYC and CCNE1 connected by translocations. Read More

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Osteosarcoma in One of Identical Twins: Three Cases Report and a Literature Review.

Orthop Surg 2021 May 5. Epub 2021 May 5.

Department of Orthopaedic Surgery, The 960th Hospital of the PLA Joint Logistics Support Force, Jinan, China.

Background: Osteosarcoma (OS) is the most common primary malignant bone tumor occurring mainly in children and young adults. OS is usually seen in sporadic cases, and it is an extremely rare phenomenon in blood relatives, particularly among identical twins.

Case Presentation: The present study reports three cases of OS occurring in only one of identical twins. Read More

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Transformed Canine and Murine Mesenchymal Stem Cells as a Model for Sarcoma with Complex Genomics.

Cancers (Basel) 2021 Mar 5;13(5). Epub 2021 Mar 5.

Department of Pathology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.

Sarcomas are rare mesenchymal tumors with a broad histological spectrum, but they can be divided into two groups based on molecular pathology: sarcomas with simple or complex genomics. Tumors with complex genomics can have aneuploidy and copy number gains and losses, which hampers the detection of early, initiating events in tumorigenesis. Often, no benign precursors are known, which is why good models are essential. Read More

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Identification of 6 gene markers for survival prediction in osteosarcoma cases based on multi-omics analysis.

Exp Biol Med (Maywood) 2021 Feb 9:1535370221992015. Epub 2021 Feb 9.

Department of Orthopaedics, Shanghai Tenth People's Hospital, Tongji University, School of Medicine, Shanghai 200072, China.

Multiple-omics sequencing information with high-throughput has laid a solid foundation to identify genes associated with cancer prognostic process. Multiomics information study is capable of revealing the cancer occurring and developing system according to several aspects. Currently, the prognosis of osteosarcoma is still poor, so a genetic marker is needed for predicting the clinically related overall survival result. Read More

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February 2021

Guillain-Barre Syndrome Amid Osteosarcoma Treatment: A Therapeutic Dilemma and Literature Review.

Cureus 2021 Jan 2;13(1):e12432. Epub 2021 Jan 2.

Department of Internal Medicine, The Ohio State University College of Medicine, Columbus, USA.

Guillain-Barre syndrome (GBS) is a clinical syndrome with multiple variants. GBS is defined as an acute demyelinating polyneuropathy commonly preceded by infection (bacterial or viral), trauma, or inflammatory processes, which triggers an autoimmune response that affects the peripheral nervous system. This case report describes a patient with high-grade osteosarcoma that completed neoadjuvant chemotherapy and underwent surgical resection with no immediate complications. Read More

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January 2021

Analysis of a Preliminary microRNA Expression Signature in a Human Telangiectatic Osteogenic Sarcoma Cancer Cell Line.

Int J Mol Sci 2021 Jan 25;22(3). Epub 2021 Jan 25.

Department of Experimental and Clinical Biomedical Sciences, University of Florence, 50134 Florence, Italy.

Telangiectatic osteosarcoma (TOS) is an aggressive variant of osteosarcoma (OS) with distinctive radiographic, gross, microscopic features, and prognostic implications. Despite several studies on OS, we are still far from understanding the molecular mechanisms of TOS. In recent years, many studies have demonstrated not only that microRNAs (miRNAs) are involved in OS tumorigenesis, development, and metastasis, but also that the presence in high-grade types of OS of cancer stem cells (CSCs) plays an important role in tumor progression. Read More

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January 2021

Single nucleotide polymorphisms from candidate genes associated with nematode resistance and resilience in Corriedale and Pampinta sheep in Argentina.

Gene 2021 Feb 15;770:145345. Epub 2020 Dec 15.

Instituto Nacional de Tecnología Agropecuaria, CICVyA-CNIA, Instituto de Genética "Ewald A. Favret", Nicolás Repetto y de Los Reseros s/n, Hurlingham (B1686), Buenos Aires, Argentina.

Selective breeding of genetically resistant animals is considered a promising strategy to face the problem of nematode resistance to anthelmintics and mitigate concerns about the presence of chemical residues in animal food products and the environment. Gastrointestinal nematode resistance is a complex, multifactorial trait related to host immunity. However, the mechanisms underlying host resistance and response to infection remain to be fully elucidated. Read More

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February 2021

Germline Testing in Breast Cancers: Why, When and How?

Cancers (Basel) 2020 Dec 14;12(12). Epub 2020 Dec 14.

Department of Genetics, Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, 76000 Rouen, France.

Germline variants represent a main genetic cause of breast cancers before 31 years of age. Development of cancer multi-gene panels has resulted in an exponential increase of germline testing in breast cancer patients. Interpretation of variants, which are mostly missense, is complex and requires excluding clonal haematopoiesis and circulating tumour DNA. Read More

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December 2020

Germline Variation and Somatic Alterations in Ewing Sarcoma.

Methods Mol Biol 2021 ;2226:3-14

Division of Translational Pediatric Sarcoma Research, German Cancer Research Center (DKFZ), Hopp Children's Cancer Center (KiTZ), Heidelberg, Germany.

Ewing sarcoma (EwS) is a rare bone or soft tissue tumor that occurs early in life and as such genetic variation is a major contributor to EwS risk. To date, genetic investigations have identified key somatic mutations and germline variants of importance for EwS risk. While substantial progress is being made in uncovering the genetic etiology of EwS, considerable gaps in knowledge remain. Read More

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Somatic and germline analysis of a familial Rothmund-Thomson syndrome in two siblings with osteosarcoma.

NPJ Genom Med 2020 4;5:51. Epub 2020 Dec 4.

Department of Pediatrics, University Clinic of Navarra, Pamplona, Spain.

Rothmund-Thomson syndrome (RTS) is characterized by a rash that begins in the first few months of life and eventually develops into poikiloderma. Associated symptoms are alterations in the teeth, sparse hair, thin eyebrows, lack of eyelashes, low stature, bone abnormalities, hematological illnesses, gastrointestinal disease, malnutrition, cataracts, and predisposition to cancer, principally to bone tumors and skin cancer. Diagnostic certitude is provided by a genetic study involving detection of pathogenic variants of the gene. Read More

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December 2020

[Integrative molecular pathology of cancer].

Pathologe 2020 Dec;41(Suppl 2):67-69

Abteilung Translationale Pädiatrische Sarkomforschung, Deutsches Krebsforschungszentrum (DKFZ), German Cancer Consortium (DKTK), Im Neuenheimer Feld 280, 69120, Heidelberg, Deutschland.

The field of molecular pathology has revolutionized our understanding of relevant oncogenic alterations in cancer and yielded new diagnostic tools and therapeutic approaches for personalized oncology, especially for malignancies of adulthood. However, many pediatric tumors, such as Ewing sarcoma, are characterized by a remarkable paucity of recurrent driver mutations, which are usually not suitable as drug targets. Despite the relative homogeneity of the somatic mutational profiles, these tumors nevertheless exhibit a relatively strong clinical heterogeneity, indicating additional modulating factors. Read More

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December 2020

Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature.

Hum Mutat 2021 Jan 30;42(1):89-101. Epub 2020 Nov 30.

School of Biological Sciences, University of the Punjab, Lahore, Pakistan.

Skeletal dysplasias are a heterogeneous group of disorders ranging from mild to lethal skeletal defects. We investigated two unrelated families with individuals presenting with a severe skeletal disorder. In family NMD02, affected individuals had a dysostosis multiplex-like skeletal dysplasia and severe short stature (<-8. Read More

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January 2021

Genetic Predisposition to Solid Pediatric Cancers.

Front Oncol 2020 28;10:590033. Epub 2020 Oct 28.

Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.

Progresses over the past years have extensively improved our capacity to use genome-scale analyses-including high-density genotyping and exome and genome sequencing-to identify the genetic basis of pediatric tumors. In particular, exome sequencing has contributed to the evidence that about 10% of children and adolescents with tumors have germline genetic variants associated with cancer predisposition. In this review, we provide an overview of genetic variations predisposing to solid pediatric tumors (medulloblastoma, ependymoma, astrocytoma, neuroblastoma, retinoblastoma, Wilms tumor, osteosarcoma, rhabdomyosarcoma, and Ewing sarcoma) and outline the biological processes affected by the involved mutated genes. Read More

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October 2020

Nearly Half of Germline Variants Predicted To Be Pathogenic in Patients With Osteosarcoma Are De Novo: A Report From the Children's Oncology Group.

JCO Precis Oncol 2020 2;4. Epub 2020 Oct 2.

Division of Epidemiology and Clinical Research, Department of Pediatrics, University of Minnesota, Minneapolis, MN.

Purpose: To ascertain the prevalence of recurrent de novo variants among 240 pediatric patients with osteosarcoma (OS; age < 20 years) unselected for family history of cancer.

Methods: The identification of de novo variants was implemented in 2 phases. In the first, we identified genes with a rare (minor allele frequency < 0. Read More

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October 2020

Histone Mutations and Bone Cancers.

Adv Exp Med Biol 2021 ;1283:53-62

Department of Orthopedic Surgery, Mayo Clinic, Rochester, MN, USA.

Primary bone tumors are rare cancers that cause significant morbidity and mortality. The recent identification of recurrent mutations in histone genes H3F3A and H3F3B within specific bone cancers, namely, chondroblastomas and giant cell tumors of bone (GCTB), has provided insights into the cellular and molecular origins of these neoplasms and enhanced understanding of how histone variants control chromatin function. Somatic mutations in H3F3A and H3F3B produce oncohistones, H3. Read More

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January 2021

Cytological diagnosis of osteosarcoma with emphasis on diagnostic pitfalls.

Cytopathology 2021 Mar 4;32(2):243-249. Epub 2020 Dec 4.

Department of Cytology and Gynecologic Pathology, PGIMER, Chandigarh, India.

Introduction: Fine needle aspiration is a well-established technique for evaluating primary and secondary bony lesions. With use in selected cases, it achieves a diagnostic yield comparable to biopsies.

Methods: Cases of osteosarcoma (OS) with available histological follow-up were retrieved over a 10-year period. Read More

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The effects of common variants in MDM2 and GNRH2 genes on the risk and survival of osteosarcoma in Han populations from Northwest China.

Sci Rep 2020 09 29;10(1):15939. Epub 2020 Sep 29.

Department of Orthopaedic Trauma, HongHui Hospital, Xi'an Jiaotong University, 555 Youyi East Road, Beilin District, Xi'an, 710053, Shaanxi, China.

Accumulating evidence has shown that both MDM2 and GNRH2 might be related to Osteosarcoma (OS) susceptibility. The study aimed to evaluate the effects of common variants in MDM2 and GNRH2 genes on the risk and survival of osteosarcoma in Han populations from Northwest China. In the study, we recruited 2292 subjects including 596 OS patients and 1696 healthy controls and genotyped 16 selected tag SNPs (6 from GNRH2 and 10 from MDM2). Read More

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September 2020

Role of Alternatively Spliced Messenger RNA (mRNA) Isoforms of the Insulin-Like Growth Factor 1 (IGF1) in Selected Human Tumors.

Int J Mol Sci 2020 Sep 23;21(19). Epub 2020 Sep 23.

Department of Histology and Embryology, University of Medical Sciences, Swiecicki Street 6, 60-781 Poznań, Poland.

Insulin-like growth factor 1 (IGF1) is a key regulator of tissue growth and development that is also implicated in the initiation and progression of various cancers. The human IGF1 gene contains six exons and five long introns, the transcription of which is controlled by two promoters (P1 and P2). Alternate promoter usage, as well as alternative splicing (AS) of results in the expression of six various variants (isoforms) of mRNA, i. Read More

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September 2020

Analysis of Drug Metabolizing Gene Panel in Osteosarcoma Patients Identifies Association Between Variants in and and Methotrexate Levels and Toxicities.

Front Pharmacol 2020 12;11:1241. Epub 2020 Aug 12.

Department of Pediatrics, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, Netherlands.

High-dose methotrexate is a cornerstone agent in the chemotherapeutic treatment of patients with osteosarcoma. However, patients often develop methotrexate-induced toxicities. We aim to identify determinants of methotrexate-induced toxicities in osteosarcoma patients by investigating the relation between drug plasma levels, methotrexate-induced toxicities, and germline variants in genes related to drug absorption, distribution, metabolism, and elimination. Read More

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Low-frequency variation near common germline susceptibility loci are associated with risk of Ewing sarcoma.

PLoS One 2020 3;15(9):e0237792. Epub 2020 Sep 3.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, United States of America.

Background: Ewing sarcoma (EwS) is a rare, aggressive solid tumor of childhood, adolescence and young adulthood associated with pathognomonic EWSR1-ETS fusion oncoproteins altering transcriptional regulation. Genome-wide association studies (GWAS) have identified 6 common germline susceptibility loci but have not investigated low-frequency inherited variants with minor allele frequencies below 5% due to limited genotyped cases of this rare tumor.

Methods: We investigated the contribution of rare and low-frequency variation to EwS susceptibility in the largest EwS genome-wide association study to date (733 EwS cases and 1,346 unaffected controls of European ancestry). Read More

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October 2020

Alternative splicing of leptin receptor overlapping transcript in osteosarcoma.

Exp Biol Med (Maywood) 2020 10 12;245(16):1437-1443. Epub 2020 Aug 12.

Perron Institute for Neurological and Translational Science, QEII Medical Centre, Nedlands, WA 6009, Australia.

Impact Statement: Osteosarcoma (OS, also known as osteogenic sarcoma) is the most common primary malignancy of bone in children and adolescents. The molecular mechanisms of OS are extremely complicated and its molecular mediators remain to be elucidated. We sequenced total RNA from 18 OS bone samples (paired normal-tumor biopsies). Read More

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October 2020

A review of imaging of surface sarcomas of bone.

Skeletal Radiol 2021 Jan 17;50(1):9-28. Epub 2020 Jul 17.

Department of Medical Imaging, The Ottawa Hospital, University of Ottawa, Ottawa, Ontario, Canada.

Surface lesions of bone are uncommon. Although their imaging features generally mirror those of their intramedullary counterparts, surface lesions may demonstrate distinct characteristics which along with their unusual location present a diagnostic challenge. Surface sarcomas are usually of a lower grade compared with intramedullary variants, leading to differences in management. Read More

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January 2021

Pitfalls in Challenging Thyroid Tumors: Emphasis on Differential Diagnosis and Ancillary Biomarkers.

Endocr Pathol 2020 Sep 6;31(3):197-217. Epub 2020 Jul 6.

i3S Instituto de Investigação e Inovação em Saúde, Porto, Portugal.

Thyroid pathology encompasses a heterogenous group of clinicopathological entities including rare and diagnostically challenging neoplasms. The review is focused on morphological, immunohistochemical, and molecular features of rare thyroid neoplasms that can pose diagnostic problems. The tumors are organized based on growth patterns including thyroid neoplasms with predominantly papillary, follicular, solid, and spindle cell growth pattern, as well as neoplasms with distinct cytological characteristics. Read More

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September 2020

Stable Fibroblast Growth Factor 2 Dimers with High Pro-Survival and Mitogenic Potential.

Int J Mol Sci 2020 Jun 9;21(11). Epub 2020 Jun 9.

Department of Protein Engineering, Faculty of Biotechnology, University of Wroclaw, Joliot-Curie 14a, 50-383 Wroclaw, Poland.

Fibroblast growth factor 2 (FGF2) is a heparin-binding growth factor with broad mitogenic and cell survival activities. Its effector functions are induced upon the formation of 2:2 FGF2:FGFR1 tetrameric complex. To facilitate receptor activation, and therefore, to improve the FGF2 biological properties, we preorganized dimeric ligand by a covalent linkage of two FGF2 molecules. Read More

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Characterization of FANCL variants observed in patient cancer cells.

Biosci Rep 2020 06;40(6)

MRC Protein Phosphorylation and Ubiquitylation Unit, Sir James Black Centre, School of Life Sciences, University of Dundee, Dundee DD1 5EH, U.K.

Fanconi Anemia (FA) is a rare genetic disorder characterized by developmental defects, bone marrow failure and high predisposition to cancer. The FA DNA repair pathway is required in humans to coordinate repair of DNA interstrand cross-links. The central event in the activation of the pathway is the monoubiquitination of FANCD2 and FANCI by the E2-E3 pair, Ube2T-FANCL, with the central UBC-RWD (URD) domain of FANCL recognizing the substrates. Read More

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