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Bone osteosarcoma

MedGen UID:
108437
Concept ID:
C0585442
Neoplastic Process
Synonym: Osteosarcoma, somatic
SNOMED CT: Osteosarcoma of bone (307576001)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Genes (locations): CHEK2 (22q12.1); RB1 (13q14.2); TP53 (17p13.1)
 
Monarch Initiative: MONDO:0002629
OMIM®: 259500
Orphanet: ORPHA668

Definition

Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells. [from ORDO]

Clinical features

From HPO
Osteosarcoma
MedGen UID:
10501
Concept ID:
C0029463
Neoplastic Process
A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.
Retinoblastoma
MedGen UID:
20552
Concept ID:
C0035335
Neoplastic Process
Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors.

Professional guidelines

PubMed

Zhang X, Macielag MJ
Expert Opin Ther Pat 2020 Oct;30(10):729-742. Epub 2020 Aug 30 doi: 10.1080/13543776.2020.1811852. PMID: 32799609

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Bone Cancer, 2024

Recent clinical studies

Etiology

Beird HC, Bielack SS, Flanagan AM, Gill J, Heymann D, Janeway KA, Livingston JA, Roberts RD, Strauss SJ, Gorlick R
Nat Rev Dis Primers 2022 Dec 8;8(1):77. doi: 10.1038/s41572-022-00409-y. PMID: 36481668
Lv Y, Wu L, Jian H, Zhang C, Lou Y, Kang Y, Hou M, Li Z, Li X, Sun B, Zhou H
Front Immunol 2022;13:997765. Epub 2022 Oct 5 doi: 10.3389/fimmu.2022.997765. PMID: 36275664Free PMC Article
Testa S, Hu BD, Saadeh NL, Pribnow A, Spunt SL, Charville GW, Bui NQ, Ganjoo KN
Curr Oncol 2021 Dec 12;28(6):5304-5317. doi: 10.3390/curroncol28060443. PMID: 34940082Free PMC Article
Kushlinskii NE, Alferov AA, Boulytcheva IV, Timofeev YS, Korotkova EA, Khvan OT, Kuzmin YB, Kuznetsov IN, Bondarev AV, Shchupak MY, Sokolov NY, Efimova MM, Gershtein ES, Sushentsov EA, Aliev MD, Musaev ER
Klin Lab Diagn 2020 Dec 4;65(11):669-675. doi: 10.18821/0869-2084-2020-65-11-669-675. PMID: 33301655
Haworth JM, Watt I, Park WM, Roylance J
Br J Radiol 1981 Nov;54(647):932-8. doi: 10.1259/0007-1285-54-647-932. PMID: 6946854

Diagnosis

Beird HC, Bielack SS, Flanagan AM, Gill J, Heymann D, Janeway KA, Livingston JA, Roberts RD, Strauss SJ, Gorlick R
Nat Rev Dis Primers 2022 Dec 8;8(1):77. doi: 10.1038/s41572-022-00409-y. PMID: 36481668
Lv Y, Wu L, Jian H, Zhang C, Lou Y, Kang Y, Hou M, Li Z, Li X, Sun B, Zhou H
Front Immunol 2022;13:997765. Epub 2022 Oct 5 doi: 10.3389/fimmu.2022.997765. PMID: 36275664Free PMC Article
Kattepur AK, Gulia A, Jones RL, Rastogi S
Future Oncol 2021 Mar;17(7):825-835. Epub 2021 Feb 3 doi: 10.2217/fon-2020-0802. PMID: 33533642
Biazzo A, De Paolis M
Acta Orthop Belg 2016 Dec;82(4):690-698. PMID: 29182106
Haworth JM, Watt I, Park WM, Roylance J
Br J Radiol 1981 Nov;54(647):932-8. doi: 10.1259/0007-1285-54-647-932. PMID: 6946854

Therapy

Testa S, Hu BD, Saadeh NL, Pribnow A, Spunt SL, Charville GW, Bui NQ, Ganjoo KN
Curr Oncol 2021 Dec 12;28(6):5304-5317. doi: 10.3390/curroncol28060443. PMID: 34940082Free PMC Article
Palmerini E, Torricelli E, Cascinu S, Pierini M, De Paolis M, Donati D, Cesari M, Longhi A, Abate M, Paioli A, Setola E, Ferrari S
Pediatr Blood Cancer 2019 Aug;66(8):e27792. Epub 2019 May 6 doi: 10.1002/pbc.27792. PMID: 31058424
Biazzo A, De Paolis M
Acta Orthop Belg 2016 Dec;82(4):690-698. PMID: 29182106
Longhi A, Errani C, De Paolis M, Mercuri M, Bacci G
Cancer Treat Rev 2006 Oct;32(6):423-36. Epub 2006 Jul 24 doi: 10.1016/j.ctrv.2006.05.005. PMID: 16860938
Loutit JF
Br J Cancer 1970 Jun;24(2):195-207. doi: 10.1038/bjc.1970.23. PMID: 5271269Free PMC Article

Prognosis

Lv Y, Wu L, Jian H, Zhang C, Lou Y, Kang Y, Hou M, Li Z, Li X, Sun B, Zhou H
Front Immunol 2022;13:997765. Epub 2022 Oct 5 doi: 10.3389/fimmu.2022.997765. PMID: 36275664Free PMC Article
Testa S, Hu BD, Saadeh NL, Pribnow A, Spunt SL, Charville GW, Bui NQ, Ganjoo KN
Curr Oncol 2021 Dec 12;28(6):5304-5317. doi: 10.3390/curroncol28060443. PMID: 34940082Free PMC Article
Weglarz-Tomczak E, Rijlaarsdam DJ, Tomczak JM, Brul S
Int J Mol Sci 2021 Feb 2;22(3) doi: 10.3390/ijms22031470. PMID: 33540580Free PMC Article
Biazzo A, De Paolis M
Acta Orthop Belg 2016 Dec;82(4):690-698. PMID: 29182106
Longhi A, Errani C, De Paolis M, Mercuri M, Bacci G
Cancer Treat Rev 2006 Oct;32(6):423-36. Epub 2006 Jul 24 doi: 10.1016/j.ctrv.2006.05.005. PMID: 16860938

Clinical prediction guides

Lv Y, Wu L, Jian H, Zhang C, Lou Y, Kang Y, Hou M, Li Z, Li X, Sun B, Zhou H
Front Immunol 2022;13:997765. Epub 2022 Oct 5 doi: 10.3389/fimmu.2022.997765. PMID: 36275664Free PMC Article
Testa S, Hu BD, Saadeh NL, Pribnow A, Spunt SL, Charville GW, Bui NQ, Ganjoo KN
Curr Oncol 2021 Dec 12;28(6):5304-5317. doi: 10.3390/curroncol28060443. PMID: 34940082Free PMC Article
Weglarz-Tomczak E, Rijlaarsdam DJ, Tomczak JM, Brul S
Int J Mol Sci 2021 Feb 2;22(3) doi: 10.3390/ijms22031470. PMID: 33540580Free PMC Article
Zakhireh S, Adibkia K, Beygi-Khosrowshahi Y, Barzegar-Jalali M
Biol Trace Elem Res 2021 May;199(5):1802-1811. Epub 2020 Aug 20 doi: 10.1007/s12011-020-02309-2. PMID: 32816138
Bertin H, Guilho R, Brion R, Amiaud J, Battaglia S, Moreau A, Brouchet-Gomez A, Longis J, Piot B, Heymann D, Corre P, Rédini F
J Transl Med 2019 Feb 27;17(1):56. doi: 10.1186/s12967-019-1807-5. PMID: 30813941Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2024
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Bone Cancer, 2024

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