442 results match your criteria Osteosarcoma Variants

A review on the role of DANCR in the carcinogenesis.

Cancer Cell Int 2022 May 19;22(1):194. Epub 2022 May 19.

Skull Base Research Center, Loghman Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

DANCR is an RNA gene located on chr4. This gene has several splice variants. Up-regulation of DANCR has been reported in many types of cancers. Read More

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Tumor and Constitutional Sequencing for Neurofibromatosis Type 1.

JCO Precis Oncol 2022 05;6:e2100540

Institute for Human Genetics, University of California San Francisco, San Francisco, CA.

Purpose: variants in tumors are important to recognize, as multiple mechanisms may give rise to biallelic variants. Both deletions and copy-neutral loss of heterozygosity (LOH) are potential mechanisms of loss, distinct from point mutations, and additional genes altered may drive different tumor types. This study investigates whether tumors from individuals with neurofibromatosis type 1 (NF1) demonstrate additional gene variants and detects second hits using paired germline and somatic sequencing. Read More

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Germline predisposition to pediatric Ewing sarcoma is characterized by inherited pathogenic variants in DNA damage repair genes.

Am J Hum Genet 2022 Jun 4;109(6):1026-1037. Epub 2022 May 4.

Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Medical Oncology, Dana-Farber Cancer Institute, 450 Brookline Avenue, Boston, MA 02115, USA; Center for Cancer Genomics, Dana-Farber Cancer Institute, Boston, MA 02115, USA. Electronic address:

More knowledge is needed regarding germline predisposition to Ewing sarcoma to inform biological investigation and clinical practice. Here, we evaluated the enrichment of pathogenic germline variants in Ewing sarcoma relative to other pediatric sarcoma subtypes, as well as patterns of inheritance of these variants. We carried out European-focused and pan-ancestry case-control analyses to screen for enrichment of pathogenic germline variants in 141 established cancer predisposition genes in 1,147 individuals with pediatric sarcoma diagnoses (226 Ewing sarcoma, 438 osteosarcoma, 180 rhabdomyosarcoma, and 303 other sarcoma) relative to identically processed cancer-free control individuals. Read More

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Telangiectatic Osteosarcoma in a Young Child - A Case Report and Review of the Literature.

J Orthop Case Rep 2021 Jun;11(6):72-75

Department of Pediatrics, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India.

Introduction: Osteosarcoma (OS) is one of the most common primary malignant bone tumors in children and adolescents. OS incidence varies significantly with age and peak incidence is in adolescent age group. Telangiectatic osteosarcoma (TOS) is an unusual variant of OS, forming 3-10% of all OSs. Read More

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9p21.3 Microdeletion involving in a young patient with multiple primary cancers and review of the literature.

Cold Spring Harb Mol Case Stud 2022 Jun 22;8(4). Epub 2022 Jun 22.

Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen 2100, Denmark.

Germline pathogenic variants in predispose to various cancers, including melanoma, pancreatic cancer, and neural system tumors, whereas variants are associated with renal cell carcinoma. A few case reports have described heterozygous germline deletions spanning both and associated with a cancer predisposition syndrome (CPS) that constitutes a risk of cancer beyond those associated with haploinsufficiency of each gene individually, indicating an additive effect or a contiguous gene deletion syndrome. We report a young woman with a de novo germline 9p21 microdeletion involving the / genes who developed six primary cancers since childhood, including a very rare extraskeletal osteosarcoma (eOS) at the age of 8. Read More

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Alternative RNA splicing defects in pediatric cancers: new insights in tumorigenesis and potential therapeutic vulnerabilities.

Ann Oncol 2022 Jun 23;33(6):578-592. Epub 2022 Mar 23.

Center for Childhood Cancer and Blood Diseases, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, USA; Molecular, Cellular and Developmental Biology Graduate Program and The Center for RNA Biology, The Ohio State University, Columbus, USA. Electronic address:

Background: Compared with adult cancers, pediatric cancers are uniquely characterized by a genomically stable landscape and lower tumor mutational burden. Alternative splicing, however, a global cellular process that produces different messenger RNA/protein isoforms from a single messenger RNA transcript, has been increasingly implicated in the development of pediatric cancers.

Design: We review the current literature on the role of alternative splicing in adult cancer, cancer predisposition syndromes, and pediatric cancers. Read More

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FAT1 and MSH2 Are Predictive Prognostic Markers for Chinese Osteosarcoma Patients Following Chemotherapeutic Treatment.

J Bone Miner Res 2022 05 29;37(5):885-895. Epub 2022 Mar 29.

Department of Oncology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.

Osteosarcoma is characterized by diverse genetic mutations, including single-nucleotide variants (SNVs), which can complicate clinical outcomes of the treatment. This study identified key mutations or polymorphisms in genes that correlate with osteosarcoma prognoses. A total of 110 patients with osteosarcoma were assigned to "good" or "poor" cohorts depending on their 5-year disease-free survival (DFS) after surgery and chemotherapeutic treatment. Read More

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Li-Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype-phenotype correlation.

BMC Med Genomics 2022 03 4;15(1):44. Epub 2022 Mar 4.

Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, University Tunis El Manar, 1006, Tunis, Tunisia.

Background: Li-Fraumeni syndrome (LFS) is a rare autosomal hereditary predisposition to multiples cancers, mainly affecting young individuals. It is characterized by a broad tumor spectrum. To our best knowledge, only one Tunisian study with a confirmed LFS was published. Read More

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A novel tandem duplication in a child with Li-Fraumeni syndrome.

Cold Spring Harb Mol Case Stud 2022 04 28;8(3). Epub 2022 Apr 28.

Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

Li-Fraumeni syndrome (LFS) is one of the most common cancer predisposition syndromes that affects both children and adults. Individuals with LFS are at an increased risk of developing various types of cancer over their lifetime including soft tissue sarcomas, osteosarcomas, breast cancer, leukemia, brain tumors, and adrenocortical carcinoma. Heterozygous germline pathogenic variants in the tumor suppressor gene are the known causal genetic defect for LFS. Read More

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Cancer risk among RECQL4 heterozygotes.

Cancer Genet 2022 04 9;262-263:107-110. Epub 2022 Feb 9.

Texas Children's Cancer and Hematology Centers, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030 United States. Electronic address:

Rothmund-Thomson syndrome (RTS) is an autosomal recessive cancer-predisposition disorder characterized by the presence of a wide range of clinical features including poikiloderma, sparse hair, growth deficiency, cataracts, and skeletal abnormalities. Importantly, two-thirds of individuals with RTS have a significant risk of developing osteosarcoma due to the presence of biallelic pathogenic variants in RECQL4, a critical gene involved in DNA repair and replication. It is unknown whether individuals who are heterozygous for a RECQL4 pathogenic variant also have an increased risk of cancer. Read More

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Automatic detection of osteosarcoma based on integrated features and feature selection using binary arithmetic optimization algorithm.

Multimed Tools Appl 2022 7;81(6):8807-8834. Epub 2022 Feb 7.

School of Computer Science and Engineering, Shri Mata Vaishno Devi University, Katra, Jammu and Kashmir India.

Osteosarcoma is one of the most common malignant bone tumors mostly found in children and teenagers. Manual detection of osteosarcoma requires expertise and it is a labour-intensive process. If detected on time, the mortality rate can be reduced. Read More

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February 2022

Exosomal Long Non-Coding RNA ANCR Mediates Drug Resistance in Osteosarcoma.

Front Oncol 2021 12;11:735254. Epub 2022 Jan 12.

Orthopedic Research Institute, Department of Orthopedics, West China Hospital, Sichuan University, Chengdu, China.

Osteosarcoma (OS) is rare cancer with bimodal age distribution with peaks observed in children and young adults. Typically, OS is treated with pre-surgery neoadjuvant therapy, surgical excision, and post-surgery chemotherapy. However, the efficacy of treatment on disease prognosis and objective response is not currently optimal, often resulting in drug resistance; in turn, highlighting the need to understand mechanisms driving resistance to therapy in OS patients. Read More

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January 2022

Splice variants denote differences between a cancer stem cell side population of EWSR1‑ERG‑based Ewing sarcoma cells, its main population and EWSR1‑FLI‑based cells.

Int J Mol Med 2022 03 28;49(3). Epub 2022 Jan 28.

Department of Pediatric Hematology and Oncology, University Hospital Münster, D‑48149 Münster, Germany.

Ewing sarcoma is a challenging cancer entity, which, besides the characteristic presence of a fusion gene, is driven by multiple alternative splicing events. So far, splice variants in Ewing sarcoma cells were mainly analyzed for EWSR1‑FLI1. The present study provided a comprehensive alternative splicing study on CADO‑ES1, an Ewing model cell line for an EWSR1‑ERG fusion gene. Read More

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Synchronous lung and multiple soft tissue metastases developed from osteosarcoma of tibia: a rare case report and genetic profile analysis.

BMC Musculoskelet Disord 2022 Jan 20;23(1):74. Epub 2022 Jan 20.

Department of Orthopedics, Orthopedics Research Institute, West China Hospital, Sichuan University, Guoxue Road No. 37, Chengdu, Sichuan, 610041, People's Republic of China.

Background: Osteosarcoma is the most common primary malignant bone tumor with a highly metastatic propensity in children and young adolescents. The majority of metastases develope in the lung, while metastases to the extrapulmonary locations have rarely been discussed, especially in skeletal muscle.

Case Presentation: We reported a young patient with pathologically diagnosed osteosarcoma of the right tibia who was initially treated with standard chemotherapy and complete surgical resection. Read More

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January 2022

STIM1 Controls the Focal Adhesion Dynamics and Cell Migration by Regulating SOCE in Osteosarcoma.

Int J Mol Sci 2021 Dec 23;23(1). Epub 2021 Dec 23.

Institute of Basic Medical Sciences, National Cheng Kung University, Tainan 701, Taiwan.

The dysregulation of store-operated Ca entry (SOCE) promotes cancer progression by changing Ca levels in the cytosol or endoplasmic reticulum. Stromal interaction molecule 1 (STIM1), a component of SOCE, is upregulated in several types of cancer and responsible for cancer cell migration, invasion, and metastasis. To explore the impact of STIM1-mediated SOCE on the turnover of focal adhesion (FA) and cell migration, we overexpressed the wild-type and constitutively active or dominant negative variants of STIM1 in an osteosarcoma cell line. Read More

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December 2021

Patient-derived iPSCs link elevated mitochondrial respiratory complex I function to osteosarcoma in Rothmund-Thomson syndrome.

PLoS Genet 2021 12 29;17(12):e1009971. Epub 2021 Dec 29.

Department of Integrative Biology and Pharmacology, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas, United States of America.

Rothmund-Thomson syndrome (RTS) is an autosomal recessive genetic disorder characterized by poikiloderma, small stature, skeletal anomalies, sparse brows/lashes, cataracts, and predisposition to cancer. Type 2 RTS patients with biallelic RECQL4 pathogenic variants have multiple skeletal anomalies and a significantly increased incidence of osteosarcoma. Here, we generated RTS patient-derived induced pluripotent stem cells (iPSCs) to dissect the pathological signaling leading to RTS patient-associated osteosarcoma. Read More

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December 2021

Genome-Wide Analyses for Osteosarcoma in Leonberger Dogs Reveal the Gene Locus as a Major Risk Locus.

Genes (Basel) 2021 12 9;12(12). Epub 2021 Dec 9.

Institute of Genetics, Vetsuisse Faculty, University of Bern, 3012 Bern, Switzerland.

Dogs represent a unique spontaneous cancer model. Osteosarcoma (OSA) is the most common primary bone tumor in dogs (OMIA 001441-9615), and strongly resembles human forms of OSA. Several large- to giant-sized dog breeds, including the Leonberger, have a greatly increased risk of developing OSA. Read More

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December 2021

Chondromyxoid Fibroma-Like Osteosarcoma in a 13 Years Old Girl: A Report of a New Case.

Clin Pathol 2021 Jan-Dec;14:2632010X211057555. Epub 2021 Nov 18.

Department of Pathology, Maternity and Children's Hospital Ibn Sina University Hospital, Rabat, Morocco.

Osteosarcoma (OS) is the most common primary non hematopoietic malignant tumor of bone with a strict histologic definition: the presence of unequivocal osteoid produced by neoplastic cells. Rare variants displaying low-grade histological features have been described; among which chondromyxoid fibroma-like (CMF-OS) is the rarest. However, despite its bland morphology; CMF-like OS has an aggressive clinical behavior and a poor prognosis. Read More

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November 2021

Establishment of multiplex RT-PCR to detect fusion genes for the diagnosis of Ewing sarcoma.

Diagn Pathol 2021 Nov 8;16(1):102. Epub 2021 Nov 8.

Department of Pathology, National Center for Child Health and Development, Tokyo, 157-8535, Japan.

Background: Detection of the tumor-specific EWSR1/FUS-ETS fusion gene is essential to diagnose Ewing sarcoma. Reverse transcription-polymerase chain reaction (RT-PCR) and fluorescence in situ hybridization are commonly used to detect the fusion gene, and assays using next-generation sequencing have recently been reported. However, at least 28 fusion transcript variants have been reported, making rapid and accurate detection difficult. Read More

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November 2021

Molecular profiling of osteosarcoma in children and adolescents from different age groups using a next-generation sequencing panel.

Cancer Genet 2021 11 5;258-259:85-92. Epub 2021 Oct 5.

Pediatrics Department, Pediatric Oncology Institute/GRAACC (Grupo de Apoio ao Adolescente e à Criança com Câncer), Federal University of Sao Paulo, Sao Paulo, SP, Brazil; Morphology and Genetics Department, Genetics Discipline, Federal University of São Paulo, Sao Paulo, SP, Brazil. Electronic address:

Osteosarcoma (OS) is a malignant bone tumor, with a peak of incidence in the second decade of life and possibly associated with the presence of germline mutations. Besides, clinicians have pointed to a second, rarer group of patients that develops OS before 10 years old. Here we access, through next-generation sequencing (NGS) strategy, the genetic alterations present in OS and blood samples from patients diagnosed before and during the second decade of life. Read More

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November 2021

Immune pathways and TP53 missense mutations are associated with longer survival in canine osteosarcoma.

Commun Biol 2021 10 11;4(1):1178. Epub 2021 Oct 11.

Department of Clinical Sciences, College of Veterinary Medicine and Biomedical Sciences, Colorado State University, Fort Collins, CO, 80523, USA.

Osteosarcoma affects about 2.8% of dogs with cancer, with a one-year survival rate of approximately 45%. The purpose of this study was to characterize mutation and expression profiles of osteosarcoma and its association with outcome in dogs. Read More

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October 2021

Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1.

Int J Clin Oncol 2021 Dec 11;26(12):2161-2178. Epub 2021 Oct 11.

Saga International Heavy Ion Cancer Radiation Therapy Center, Saga, Japan.

Li-Fraumeni syndrome (LFS) is a hereditary tumor that exhibits autosomal dominant inheritance. LFS develops in individuals with a pathogenic germline variant of the cancer-suppressor gene, TP53 (individuals with TP53 pathogenic variant). The number of individuals with TP53 pathogenic variant among the general population is said to be 1 in 500 to 20,000. Read More

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December 2021

Heritability and genetic variance estimation of Osteosarcoma (OSA) in Irish Wolfhound, using deep pedigree information.

Canine Med Genet 2021 Oct 9;8(1). Epub 2021 Oct 9.

Department of Surgical Sciences, School of Veterinary Medicine, University of Wisconsin-Madison, 2015 Linden Drive, Madison, WI, 53706, USA.

Background: Osteosarcoma (OSA) is a devastating disease that is common in the Irish Wolfhound breed. The aim of this study was to use a pedigree-based approach to determine the heritability of OSA in the Irish Wolfhound using data from a large publically available database.

Results: The pedigree used for this study included 5110 pure-bred Irish Wolfhounds, including 332 dogs diagnosed with OSA and 360 control dogs; dogs were considered controls if they lived over 10 years of age and were not reported to have developed OSA. Read More

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October 2021

Case Report: Identification of a Novel Pathogenic Germline Variant in a Family With Li-Fraumeni Syndrome.

Front Genet 2021 1;12:734809. Epub 2021 Sep 1.

Medical Genetics Unit, University "Magna Graecia", Catanzaro, Italy.

Li-Fraumeni syndrome (LFS) is an inherited autosomal dominant disease characterized by a predisposition to many cancers. Germline pathogenic variants in are primarily responsible for LFS. By performing a targeted sequencing panel in a proband with liver carcinoma having a deceased son affected by osteosarcoma, we found the novel heterozygous frameshift variant c. Read More

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September 2021

ATR-X syndrome: genetics, clinical spectrum, and management.

Hum Genet 2021 Dec 15;140(12):1625-1634. Epub 2021 Sep 15.

Sex Development Laboratory, Centre for Endocrinology and Metabolism, Hudson Institute of Medical Research, 27-31 Wright Street, Melbourne, VIC, 3168, Australia.

ATR-X, an acronym for alpha thalassemia and mental retardation X-linked, syndrome is a congenital condition predominantly affecting males, characterized by mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies. Less common are heart defects, eye anomalies, renal abnormalities, and gastrointestinal dysfunction. ATR-X syndrome is caused by germline variants in the ATRX gene. Read More

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December 2021

A concise review on the role of BDNF-AS in human disorders.

Biomed Pharmacother 2021 Oct 18;142:112051. Epub 2021 Aug 18.

Skull Base Research Center, Loghman Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Electronic address:

Brain-derived neurotrophic factor-antisense (BDNF-AS) is a long non-coding RNA with tens of alternatively spliced variants being transcribed from 11p14 cytogenetic band. As a naturally occurring anti-sense, it regulates expression of BDNF, a factor which as essential roles in the pathoetiology of neurodevelopmental diseases. Notably, BDNF-AS has been reported to be down-regulated in colorectal cancer, osteosarcoma, esophageal cancer, glioblastoma, prostate cancer, cervical cancer and breast cancer. Read More

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October 2021

Association of MTHFR and ABCB1 polymorphisms with MTX-induced mucositis in Chinese paediatric patients with acute lymphoblastic leukaemia, lymphoma or osteosarcoma-A retrospective cohort study.

J Clin Pharm Ther 2021 Dec 4;46(6):1557-1563. Epub 2021 Aug 4.

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

What Is Known And Objective: MTX pharmacology and toxicity involve several metabolizing enzymes and transporters whose functions have been suggested to be altered by genetic polymorphisms. The current study is to investigate the relationship between the genetic variation and MTX-induced adverse drug effects.

Methods: A total of 80 paediatric patients (aged 1-14 years) were enrolled in this study. Read More

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December 2021

Rosette-forming epithelioid osteosarcoma in the rib: a rare case of location and morphology.

Sun-Ju Oh

J Pathol Transl Med 2021 Nov 3;55(6):406-409. Epub 2021 Aug 3.

Department of Pathology, Kosin University College of Medicine, Busan, Korea.

The rib is an unusual location for osteosarcoma and is reported in only 2% of all cases. The major histological variants of osteosarcoma are osteoblastic, chondroblastic, and fibroblastic, with a few rare variants including one epithelioid type. This report describes a 44-year-old male with an osteolytic mass in the right seventh rib. Read More

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November 2021

An variant links aberrant Rac1 function to early-onset skeletal fragility.

JBMR Plus 2021 Jul 7;5(7):e10509. Epub 2021 Jun 7.

Folkhälsan Institute of Genetics Helsinki Finland.

Ras homologous guanosine triphosphatases (RhoGTPases) control several cellular functions, including cytoskeletal actin remodeling and cell migration. Their activities are downregulated by GTPase-activating proteins (GAPs). Although RhoGTPases are implicated in bone remodeling and osteoclast and osteoblast function, their significance in human bone health and disease remains elusive. Read More

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

J Dermatol 2021 Oct 22;48(10):1511-1517. 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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October 2021