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Osteosarcoma(OSRC)

MedGen UID:
10501
Concept ID:
C0029463
Neoplastic Process
Synonym: Osteosarcoma (disease)
SNOMED CT: Osteoblastic sarcoma (1163405004); Osteogenic sarcoma (1163405004); Osteochondrosarcoma (1163405004); Osteosarcoma (1163405004); Osteoblastic osteosarcoma (1163405004)
 
HPO: HP:0002669
Monarch Initiative: MONDO:0009807
OMIM®: 191170; 259500

Definition

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. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOsteosarcoma
Follow this link to review classifications for Osteosarcoma in Orphanet.

Conditions with this feature

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.
Werner syndrome
MedGen UID:
12147
Concept ID:
C0043119
Disease or Syndrome
Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Individuals with Werner syndrome develop normally until the end of the first decade. The first sign is the lack of a growth spurt during the early teen years. Early findings (usually observed in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by bilateral ocular cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction and cancer are the most common causes of death; the mean age of death in individuals with Werner syndrome is 54 years.
Choroid plexus papilloma
MedGen UID:
64439
Concept ID:
C0205770
Neoplastic Process
Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).
Bone osteosarcoma
MedGen UID:
108437
Concept ID:
C0585442
Neoplastic Process
Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells.
OSLAM syndrome
MedGen UID:
331588
Concept ID:
C1833792
Disease or Syndrome
Syndrome characterized by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangia, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anemia. It has been described in three out of nine children from one family.
Li-Fraumeni syndrome 1
MedGen UID:
322656
Concept ID:
C1835398
Disease or Syndrome
Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. The lifetime risk of cancer in individuals with LFS is =70% for men and =90% for women. Five cancer types account for the majority of LFS tumors: adrenocortical carcinomas, breast cancer, central nervous system tumors, osteosarcomas, and soft-tissue sarcomas. LFS is associated with an increased risk of several additional cancers including leukemia, lymphoma, gastrointestinal cancers, cancers of head and neck, kidney, larynx, lung, skin (e.g., melanoma), ovary, pancreas, prostate, testis, and thyroid. Individuals with LFS are at increased risk for cancer in childhood and young adulthood; survivors are at increased risk for multiple primary cancers.
Diaphyseal medullary stenosis-bone malignancy syndrome
MedGen UID:
350613
Concept ID:
C1862177
Disease or Syndrome
Diaphyseal medullary stenosis with malignant fibrous histiocytoma is an autosomal dominant bone dysplasia characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis. The fractures heal poorly, and there is progressive bowing of the lower extremities. In 2 families, affected individuals also showed a limb-girdle myopathy, with muscle weakness and atrophy. Approximately 35% of affected individuals develop an aggressive form of bone sarcoma consistent with malignant fibrous histiocytoma or osteosarcoma. Thus, the disorder may be considered a tumor predisposition syndrome (summary by Camacho-Vanegas et al., 2012).
Premature aging syndrome, Okamoto type
MedGen UID:
356468
Concept ID:
C1866183
Disease or Syndrome
Diamond-Blackfan anemia 1
MedGen UID:
390966
Concept ID:
C2676137
Disease or Syndrome
Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.
Paget disease of bone 3
MedGen UID:
895927
Concept ID:
C4085252
Disease or Syndrome
Paget disease is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. See reviews by Ralston et al. (2008) and Ralston and Albagha (2014). Genetic Heterogeneity of Paget Disease of Bone Also see PDB2 (602080), caused by mutation in the TNFRSF11A gene (603499) on chromosome 18q21; PDB4 (606263), mapped to chromosome 5q31; PDB5 (239000), caused by mutation in the TNFRSF11B gene (602643) on chromosome 8q24; and PDB6 (616833), caused by mutation in the ZNF687 gene (610568) on chromosome 1q21. Suggestive linkage of a form of PDB to chromosome 6p (PDB1) was reported by Fotino et al. (1977); however, further studies did not confirm linkage to this site (Moore and Hoffman, 1988; Nance et al., 2000; Good et al., 2001).
Rothmund-Thomson syndrome type 2
MedGen UID:
1684753
Concept ID:
C5203410
Disease or Syndrome
Rothmund-Thomson syndrome (RTS) is characterized by a rash that progresses to poikiloderma; sparse hair, eyelashes, and/or eyebrows; small size; skeletal and dental abnormalities; juvenile cataracts; and an increased risk for cancer, especially osteosarcoma. A variety of benign and malignant hematologic abnormalities have been reported in affected individuals. The rash of RTS typically develops between ages three and six months (occasionally as late as age two years) as erythema, swelling, and blistering on the face, subsequently spreading to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, telangiectasias, and punctate atrophy (collectively known as poikiloderma) that persist throughout life. Hyperkeratotic lesions occur in approximately one third of individuals. Skeletal abnormalities can include radial ray defects, ulnar defects, absent or hypoplastic patella, and osteopenia.
Diamond-Blackfan anemia 21
MedGen UID:
1824003
Concept ID:
C5774230
Disease or Syndrome
Diamond-Blackfan anemia-21 (DBA21) is an autosomal recessive bone marrow failure syndrome that includes selective erythroid hypoplasia, anemia with transient thrombocytopenia, short stature, facial dysmorphism, limb abnormalities, cardiac defects, and intellectual disability (O'Donohue et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).

Professional guidelines

PubMed

Meltzer PS, Helman LJ
N Engl J Med 2021 Nov 25;385(22):2066-2076. doi: 10.1056/NEJMra2103423. PMID: 34818481
Jafari F, Javdansirat S, Sanaie S, Naseri A, Shamekh A, Rostamzadeh D, Dolati S
Ann Diagn Pathol 2020 Dec;49:151654. Epub 2020 Oct 25 doi: 10.1016/j.anndiagpath.2020.151654. PMID: 33130384
Ferguson JL, Turner SP
Am Fam Physician 2018 Aug 15;98(4):205-213. PMID: 30215968

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Bone Cancer, 2023

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
Wen Y, Tang F, Tu C, Hornicek F, Duan Z, Min L
Cancer Lett 2022 Oct 28;547:215887. Epub 2022 Aug 19 doi: 10.1016/j.canlet.2022.215887. PMID: 35995141
Eaton BR, Schwarz R, Vatner R, Yeh B, Claude L, Indelicato DJ, Laack N
Pediatr Blood Cancer 2021 May;68 Suppl 2:e28352. Epub 2020 Aug 11 doi: 10.1002/pbc.28352. PMID: 32779875
Sadykova LR, Ntekim AI, Muyangwa-Semenova M, Rutland CS, Jeyapalan JN, Blatt N, Rizvanov AA
Cancer Invest 2020 May;38(5):259-269. Epub 2020 Jun 1 doi: 10.1080/07357907.2020.1768401. PMID: 32400205
Ottaviani G, Jaffe N
Cancer Treat Res 2009;152:3-13. doi: 10.1007/978-1-4419-0284-9_1. PMID: 20213383

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
Ferri A, Bianchi B, Ferrari S
Curr Opin Otolaryngol Head Neck Surg 2022 Apr 1;30(2):154-160. doi: 10.1097/MOO.0000000000000793. PMID: 35255051
Yoshida A
Surg Pathol Clin 2021 Dec;14(4):567-583. Epub 2021 Oct 7 doi: 10.1016/j.path.2021.06.003. PMID: 34742481
Jafari F, Javdansirat S, Sanaie S, Naseri A, Shamekh A, Rostamzadeh D, Dolati S
Ann Diagn Pathol 2020 Dec;49:151654. Epub 2020 Oct 25 doi: 10.1016/j.anndiagpath.2020.151654. PMID: 33130384
Hmada YA, Bernieh A, Morris RW, Lewin J, Allen T
Arch Pathol Lab Med 2020 Jan;144(1):15-17. Epub 2019 Aug 7 doi: 10.5858/arpa.2019-0191-RA. PMID: 31389716

Therapy

Gill J, Gorlick R
Nat Rev Clin Oncol 2021 Oct;18(10):609-624. Epub 2021 Jun 15 doi: 10.1038/s41571-021-00519-8. PMID: 34131316
Smrke A, Anderson PM, Gulia A, Gennatas S, Huang PH, Jones RL
Cells 2021 Jan 15;10(1) doi: 10.3390/cells10010172. PMID: 33467756Free PMC Article
Yu WX, Lu C, Wang B, Ren XY, Xu K
Eur Rev Med Pharmacol Sci 2020 Jan;24(2):915-921. doi: 10.26355/eurrev_202001_20076. PMID: 32016998
Smeland S, Bielack SS, Whelan J, Bernstein M, Hogendoorn P, Krailo MD, Gorlick R, Janeway KA, Ingleby FC, Anninga J, Antal I, Arndt C, Brown KLB, Butterfass-Bahloul T, Calaminus G, Capra M, Dhooge C, Eriksson M, Flanagan AM, Friedel G, Gebhardt MC, Gelderblom H, Goldsby R, Grier HE, Grimer R, Hawkins DS, Hecker-Nolting S, Sundby Hall K, Isakoff MS, Jovic G, Kühne T, Kager L, von Kalle T, Kabickova E, Lang S, Lau CC, Leavey PJ, Lessnick SL, Mascarenhas L, Mayer-Steinacker R, Meyers PA, Nagarajan R, Randall RL, Reichardt P, Renard M, Rechnitzer C, Schwartz CL, Strauss S, Teot L, Timmermann B, Sydes MR, Marina N
Eur J Cancer 2019 Mar;109:36-50. Epub 2019 Jan 25 doi: 10.1016/j.ejca.2018.11.027. PMID: 30685685Free PMC Article
Isakoff MS, Bielack SS, Meltzer P, Gorlick R
J Clin Oncol 2015 Sep 20;33(27):3029-35. Epub 2015 Aug 24 doi: 10.1200/JCO.2014.59.4895. PMID: 26304877Free PMC Article

Prognosis

Eaton BR, Schwarz R, Vatner R, Yeh B, Claude L, Indelicato DJ, Laack N
Pediatr Blood Cancer 2021 May;68 Suppl 2:e28352. Epub 2020 Aug 11 doi: 10.1002/pbc.28352. PMID: 32779875
Italiano A, Mir O, Mathoulin-Pelissier S, Penel N, Piperno-Neumann S, Bompas E, Chevreau C, Duffaud F, Entz-Werlé N, Saada E, Ray-Coquard I, Lervat C, Gaspar N, Marec-Berard P, Pacquement H, Wright J, Toulmonde M, Bessede A, Crombe A, Kind M, Bellera C, Blay JY
Lancet Oncol 2020 Mar;21(3):446-455. Epub 2020 Feb 17 doi: 10.1016/S1470-2045(19)30825-3. PMID: 32078813Free PMC Article
Smeland S, Bielack SS, Whelan J, Bernstein M, Hogendoorn P, Krailo MD, Gorlick R, Janeway KA, Ingleby FC, Anninga J, Antal I, Arndt C, Brown KLB, Butterfass-Bahloul T, Calaminus G, Capra M, Dhooge C, Eriksson M, Flanagan AM, Friedel G, Gebhardt MC, Gelderblom H, Goldsby R, Grier HE, Grimer R, Hawkins DS, Hecker-Nolting S, Sundby Hall K, Isakoff MS, Jovic G, Kühne T, Kager L, von Kalle T, Kabickova E, Lang S, Lau CC, Leavey PJ, Lessnick SL, Mascarenhas L, Mayer-Steinacker R, Meyers PA, Nagarajan R, Randall RL, Reichardt P, Renard M, Rechnitzer C, Schwartz CL, Strauss S, Teot L, Timmermann B, Sydes MR, Marina N
Eur J Cancer 2019 Mar;109:36-50. Epub 2019 Jan 25 doi: 10.1016/j.ejca.2018.11.027. PMID: 30685685Free PMC Article
Ferrari A, Dirksen U, Bielack S
Prog Tumor Res 2016;43:128-41. Epub 2016 Sep 5 doi: 10.1159/000447083. PMID: 27595362
Friebele JC, Peck J, Pan X, Abdel-Rasoul M, Mayerson JL
Am J Orthop (Belle Mead NJ) 2015 Dec;44(12):547-53. PMID: 26665241

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
Pan R, Pan F, Zeng Z, Lei S, Yang Y, Yang Y, Hu C, Chen H, Tian X
Front Immunol 2022;13:1017120. Epub 2022 Sep 14 doi: 10.3389/fimmu.2022.1017120. PMID: 36189307Free PMC Article
Lei T, Qian H, Lei P, Hu Y
Cancer Sci 2021 Nov;112(11):4785-4798. Epub 2021 Sep 21 doi: 10.1111/cas.15131. PMID: 34506683Free PMC Article
Liu W, Xie X, Qi Y, Wu J
JAMA Netw Open 2021 Aug 2;4(8):e2119132. doi: 10.1001/jamanetworkopen.2021.19132. PMID: 34342651Free PMC Article
Serra M, Hattinger CM
Pharmacogenomics J 2017 Jan;17(1):11-20. Epub 2016 May 31 doi: 10.1038/tpj.2016.45. PMID: 27241064

Recent systematic reviews

Chen B, Yan Y, Wang H, Xu J
Aging Cell 2023 Jul;22(7):e13874. Epub 2023 May 26 doi: 10.1111/acel.13874. PMID: 37232505Free PMC Article
Banik K, Khatoon E, Harsha C, Rana V, Parama D, Thakur KK, Bishayee A, Kunnumakkara AB
Phytother Res 2022 May;36(5):1854-1883. Epub 2022 Jan 31 doi: 10.1002/ptr.7386. PMID: 35102626
Frezoulis P, Harper A
Vet Comp Oncol 2022 Jun;20(2):362-371. Epub 2022 Jan 17 doi: 10.1111/vco.12799. PMID: 34981886
Zhong J, Zhang G, Yao W
J Orthop Surg Res 2021 Oct 7;16(1):578. doi: 10.1186/s13018-021-02568-2. PMID: 34620208Free PMC Article
de Souza LL, Pontes HAR, Santos-Silva AR, Fernandes LA, Batista LAL, Lopes MA, Khan W, Pontes FSC
Head Neck 2020 Sep;42(9):2660-2668. Epub 2020 Apr 28 doi: 10.1002/hed.26176. PMID: 32343457

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.
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      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, 2023
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Bone Cancer, 2023

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