Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: UMLS:C0029463 (osteosarcoma)
16,637 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The famous poet Arthur Rimbaud (1854-1891) stopped writing poetry at 21 years and subsequently had a rather adventurous life mainly in the Arabic peninsula and Ethiopia. He died at 37 years, only a few months after the amputation of his right lower limb due to a developing tumor in the knee, which probably was an osteosarcoma in the lower third of the femur. His letters to his sister Isabelle suggest that he suffered from severe stump pain rather than phantom limb, but since he lived only shortly after surgery (he developed extensive carcinomatosis), one does not know whether a full phantom would have developed and how this would have affected his subsequent life.
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PMID:Arthur Rimbaud: "The Man with Wind Soles" - Riders' Osteosarcoma with Postamputation Stump Pain. 3033 82

PrimPol is a human primase/polymerase specialized in re-starting stalled forks by repriming beyond lesions such as pyrimidine dimers, and replication-perturbing structures including G-quadruplexes and R-loops. Unlike most conventional primases, PrimPol proficiently discriminates against ribonucleotides (NTPs), being able to start synthesis using deoxynucleotides (dNTPs), yet the structural basis and physiological implications for this discrimination are not understood. In silico analyses based on the three-dimensional structure of human PrimPol and related enzymes enabled us to predict a single residue, Tyr¹⁰⁰, as the main effector of sugar discrimination in human PrimPol and a change of Tyr¹⁰⁰ to histidine to boost the efficiency of NTP incorporation. We show here that the Y100H mutation profoundly stimulates NTP incorporation by human PrimPol, with an efficiency similar to that for dNTP incorporation during both primase and polymerase reactions in vitro. As expected from the higher cellular concentration of NTPs relative to dNTPs, Y100H expression in mouse embryonic fibroblasts and U2OS osteosarcoma cells caused enhanced resistance to hydroxyurea, which decreases the dNTP pool levels in S-phase. Remarkably, the Y100H PrimPol mutation has been identified in cancer, suggesting that this mutation could be selected to promote survival at early stages of tumorigenesis, which is characterized by depleted dNTP pools.
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PMID:A cancer-associated point mutation disables the steric gate of human PrimPol. 3071 33

A 73-year-old man was referred to our hospital with a persistent fever, anemia, and a mass in the left pubic region. The findings of biopsy evaluations of the mass and a left inguinal lymph node were consistent with Castleman disease (CD) of plasma cell type. His serum interleukin 6 (IL-6) level was remarkably elevated, supporting the diagnosis of CD. However, imaging analyses revealed destruction of the pubic bone by the mass, which was atypical for CD. Therefore, another deeper biopsy was performed, which finally led to the diagnosis of IL-6-producing osteosarcoma. We conclude that clinicians should carefully exclude malignancies prior to making a CD diagnosis.
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PMID:Osteosarcoma Manifesting Systemic Inflammation and Histological Features Mimicking Plasma Cell-type Castleman Disease. 3117 7

A 48-year-old man reported right hip pain and low back pain and was referred to physical therapy by an orthopaedic surgeon after magnetic resonance imaging revealed an L1-2 symmetrical disc bulge. His chief complaint was worsening right groin pain. Following examination, the patient attended 3 treatment visits; however, each visit exacerbated the patient's groin pain, so the physical therapist recommended the patient return to his surgeon for hip imaging. Radiographs revealed a right proximal femur osseous lesion. Magnetic resonance imaging was subsequently performed, and a biopsy established the diagnosis of osteosarcoma.J Orthop Sports Phys Ther 2020;50(4):214. doi:10.2519/jospt.2020.9131.
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PMID:Osteosarcoma in a Man Referred for Lumbar Radiculopathy. 3224 Dec 35

Pediatric osteosarcoma outcomes have improved over the last decades; however, patients who do not achieve a full resection of the tumor, even after aggressive chemotherapy, have the worst prognosis. At a genetic level, osteosarcoma presents many alterations, but there is scarce information on alterations at metabolomic levels. Therefore, an untargeted nuclear magnetic resonance metabonomic approach was used to reveal blood serum alterations, when samples were taken from 21 patients with osteosarcoma aged from 12-20 (18, 86%) to 43 (3, 14%) years before any anticancer therapy were collected. The results showed that metabolites differed greatly between osteosarcoma and healthy control serum samples, especially in lipids, aromatic amino acids (phenylalanine and tyrosine), and histidine concentrations. Besides, most of the loading plots point to protons of the fatty acyls (-CH₃ and -CH₂-) from very-low- and low-density lipoproteins and cholesterol, as crucial metabolites for discrimination of the patients with osteosarcoma from the healthy samples. The relevance of blood lipids in osteosarcoma was highlighted when analyzed together with the somatic mutations disclosed in tumor samples from the same cohort of patients, where six genes linked to the cholesterol metabolism were found being altered too. The high consistency of the discrimination between osteosarcoma and healthy control blood serum suggests that nuclear magnetic resonance could be successfully applied for osteosarcoma diagnostic and prognostic purposes, which could ameliorate the clinical efficacy of therapy.
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PMID:Insights in Osteosarcoma by Proton Nuclear Magnetic Resonance Serum Metabonomics. 3317 72


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