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Osteosarcoma(OSRC)

MedGen UID:
10501
Concept ID:
C0029463
Neoplastic Process
Synonyms: Osteogenic sarcoma; Osteosarcoma, somatic
SNOMED CT: [M]Osteosarcoma NOS (21708004); Osteosarcoma (307576001); Osteosarcoma - disorder (307576001); Osteosarcoma, no ICD-O subtype (21708004); Osteosarcoma, no International Classification of Diseases for Oncology subtype (21708004); Osteosarcoma (21708004); Osteochondrosarcoma (21708004); Osteogenic sarcoma (21708004)
 
Genes (locations): CHEK2 (22q12.1); RB1 (13q14.2); TP53 (17p13.1)
OMIM®: 259500
HPO: HP:0002669
Orphanet: ORPHA668

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]

Clinical features

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 (Rb) is a malignant tumor of the developing retina that occurs in children, usually before age five years. Rb develops from cells that have cancer-predisposing variants in both copies of RB1. Rb may be unifocal or multifocal. About 60% of affected individuals have unilateral Rb with a mean age of diagnosis of 24 months; about 40% have bilateral Rb with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for Rb. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors.
Retinoblastoma
MedGen UID:
20552
Concept ID:
C0035335
Neoplastic Process
Retinoblastoma (Rb) is a malignant tumor of the developing retina that occurs in children, usually before age five years. Rb develops from cells that have cancer-predisposing variants in both copies of RB1. Rb may be unifocal or multifocal. About 60% of affected individuals have unilateral Rb with a mean age of diagnosis of 24 months; about 40% have bilateral Rb with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for Rb. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding
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.

Term Hierarchy

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

Conditions with this feature

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.
Rothmund-Thomson syndrome
MedGen UID:
10819
Concept ID:
C0032339
Disease or Syndrome
Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma; sparse hair, eyelashes, and/or eyebrows; small stature; skeletal and dental abnormalities; cataracts; and an increased risk for cancer, especially osteosarcoma. The skin is typically normal at birth; the rash of RTS develops between age three and six months as erythema, swelling, and blistering on the face and subsequently spreads to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, punctate atrophy, and telangiectasias, collectively known as poikiloderma. Hyperkeratotic lesions occur in approximately one third of individuals. Skeletal abnormalities include radial ray defects, ulnar defects, absent or hypoplastic patella, and osteopenia.
Retinoblastoma
MedGen UID:
20552
Concept ID:
C0035335
Neoplastic Process
Retinoblastoma (Rb) is a malignant tumor of the developing retina that occurs in children, usually before age five years. Rb develops from cells that have cancer-predisposing variants in both copies of RB1. Rb may be unifocal or multifocal. About 60% of affected individuals have unilateral Rb with a mean age of diagnosis of 24 months; about 40% have bilateral Rb with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for Rb. 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.
Diamond-Blackfan anemia
MedGen UID:
266045
Concept ID:
C1260899
Disease or Syndrome
Diamond-Blackfan anemia (DBA) in its classic form is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50% of affected individuals, and growth retardation 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, 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.
Oslam syndrome
MedGen UID:
331588
Concept ID:
C1833792
Disease or Syndrome
Li-Fraumeni syndrome 1
MedGen UID:
322656
Concept ID:
C1835398
Disease or Syndrome
Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with the development of the following classic tumors: soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, adrenocortical carcinoma (ACC), and leukemias. In addition, a variety of other neoplasms may occur. LFS-related cancers often occur in childhood or young adulthood and survivors have an increased risk for multiple primary cancers. Age-specific cancer risks have been calculated.
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
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 Okamoto type
MedGen UID:
356468
Concept ID:
C1866183
Disease or Syndrome
Diamond-Blackfan anemia 1
MedGen UID:
390966
Concept ID:
C2676137
Disease or Syndrome
PAGET DISEASE OF BONE 1
MedGen UID:
854669
Concept ID:
C3887961
Disease or Syndrome

Recent clinical studies

Etiology

Guérin M, Thariat J, Ouali M, Bouvier C, Decouvelaere AV, Cassagnau E, Aubert S, Lepreux S, Coindre JM, Valmary-Degano S, Larousserie F, Meilleroux J, Projetti F, Stock N, Galant C, Marie B, Peyrottes I, de Pinieux G, Gomez-Brouchet A
Hum Pathol 2016 Apr;50:70-8. Epub 2015 Dec 9 doi: 10.1016/j.humpath.2015.11.012. [Epub ahead of print] PMID: 26997440
Avril P, Duteille F, Ridel P, Heymann MF, De Pinieux G, Rédini F, Blanchard F, Heymann D, Trichet V, Perrot P
Plast Reconstr Surg 2016 Mar;137(3):865-75. doi: 10.1097/01.prs.0000479989.88114.8b. PMID: 26910666
Huang J, Liu K, Song D, Ding M, Wang J, Jin Q, Ni J
Cancer Sci 2016 Mar;107(3):242-9. Epub 2016 Feb 18 doi: 10.1111/cas.12864. [Epub ahead of print] PMID: 26676883Free PMC Article
Venkatramani R, Murray J, Helman L, Meyer W, Hicks MJ, Krance R, Lau C, Jo E, Chintagumpala M
Pediatr Blood Cancer 2016 Mar;63(3):412-7. Epub 2015 Oct 26 doi: 10.1002/pbc.25808. [Epub ahead of print] PMID: 26501936
Bertrand TE, Cruz A, Binitie O, Cheong D, Letson GD
Clin Orthop Relat Res 2016 Mar;474(3):677-83. doi: 10.1007/s11999-015-4359-x. PMID: 26013153Free PMC Article

Diagnosis

Guérin M, Thariat J, Ouali M, Bouvier C, Decouvelaere AV, Cassagnau E, Aubert S, Lepreux S, Coindre JM, Valmary-Degano S, Larousserie F, Meilleroux J, Projetti F, Stock N, Galant C, Marie B, Peyrottes I, de Pinieux G, Gomez-Brouchet A
Hum Pathol 2016 Apr;50:70-8. Epub 2015 Dec 9 doi: 10.1016/j.humpath.2015.11.012. [Epub ahead of print] PMID: 26997440
Zhang S, Zhao Y, Wang L
Biochem Biophys Res Commun 2016 Apr 8;472(3):557-65. Epub 2016 Mar 10 doi: 10.1016/j.bbrc.2016.03.040. [Epub ahead of print] PMID: 26970302
Pu Y, Zhao F, Cai W, Meng X, Li Y, Cai S
Clin Exp Metastasis 2016 Apr;33(4):359-72. Epub 2016 Feb 25 doi: 10.1007/s10585-016-9783-0. [Epub ahead of print] PMID: 26913720Free PMC Article
Ye S, Shen J, Choy E, Yang C, Mankin H, Hornicek F, Duan Z
Cancer Chemother Pharmacol 2016 Feb;77(2):349-56. Epub 2015 Dec 23 doi: 10.1007/s00280-015-2944-z. [Epub ahead of print] PMID: 26698867Free PMC Article
Huang J, Liu K, Song D, Ding M, Wang J, Jin Q, Ni J
Cancer Sci 2016 Mar;107(3):242-9. Epub 2016 Feb 18 doi: 10.1111/cas.12864. [Epub ahead of print] PMID: 26676883Free PMC Article

Therapy

Avril P, Duteille F, Ridel P, Heymann MF, De Pinieux G, Rédini F, Blanchard F, Heymann D, Trichet V, Perrot P
Plast Reconstr Surg 2016 Mar;137(3):865-75. doi: 10.1097/01.prs.0000479989.88114.8b. PMID: 26910666
Lee JA, Paik EK, Seo J, Kim DH, Lim JS, Yoo JY, Kim MS
Jpn J Clin Oncol 2016 Feb;46(2):138-43. Epub 2015 Dec 18 doi: 10.1093/jjco/hyv171. [Epub ahead of print] PMID: 26685322
Venkatramani R, Murray J, Helman L, Meyer W, Hicks MJ, Krance R, Lau C, Jo E, Chintagumpala M
Pediatr Blood Cancer 2016 Mar;63(3):412-7. Epub 2015 Oct 26 doi: 10.1002/pbc.25808. [Epub ahead of print] PMID: 26501936
Roth M, Barris DM, Piperdi S, Kuo V, Everts S, Geller D, Houghton P, Kolb EA, Hawthorne T, Gill J, Gorlick R
Pediatr Blood Cancer 2016 Jan;63(1):32-8. Epub 2015 Aug 25 doi: 10.1002/pbc.25688. [Epub ahead of print] PMID: 26305408
Li X, Tian J, Bo Q, Li K, Wang H, Liu T, Li J
Tumour Biol 2015 Dec;36(12):9365-72. Epub 2015 Jun 25 doi: 10.1007/s13277-015-3642-5. [Epub ahead of print] PMID: 26108997

Prognosis

Guérin M, Thariat J, Ouali M, Bouvier C, Decouvelaere AV, Cassagnau E, Aubert S, Lepreux S, Coindre JM, Valmary-Degano S, Larousserie F, Meilleroux J, Projetti F, Stock N, Galant C, Marie B, Peyrottes I, de Pinieux G, Gomez-Brouchet A
Hum Pathol 2016 Apr;50:70-8. Epub 2015 Dec 9 doi: 10.1016/j.humpath.2015.11.012. [Epub ahead of print] PMID: 26997440
Zhang S, Zhao Y, Wang L
Biochem Biophys Res Commun 2016 Apr 8;472(3):557-65. Epub 2016 Mar 10 doi: 10.1016/j.bbrc.2016.03.040. [Epub ahead of print] PMID: 26970302
Pu Y, Zhao F, Cai W, Meng X, Li Y, Cai S
Clin Exp Metastasis 2016 Apr;33(4):359-72. Epub 2016 Feb 25 doi: 10.1007/s10585-016-9783-0. [Epub ahead of print] PMID: 26913720Free PMC Article
Venkatramani R, Murray J, Helman L, Meyer W, Hicks MJ, Krance R, Lau C, Jo E, Chintagumpala M
Pediatr Blood Cancer 2016 Mar;63(3):412-7. Epub 2015 Oct 26 doi: 10.1002/pbc.25808. [Epub ahead of print] PMID: 26501936
Bertrand TE, Cruz A, Binitie O, Cheong D, Letson GD
Clin Orthop Relat Res 2016 Mar;474(3):677-83. doi: 10.1007/s11999-015-4359-x. PMID: 26013153Free PMC Article

Clinical prediction guides

Zhu Z, Tang J, Wang J, Duan G, Zhou L, Zhou X
PLoS One 2016;11(3):e0150026. Epub 2016 Mar 28 doi: 10.1371/journal.pone.0150026. PMID: 27019355Free PMC Article
Pu Y, Zhao F, Cai W, Meng X, Li Y, Cai S
Clin Exp Metastasis 2016 Apr;33(4):359-72. Epub 2016 Feb 25 doi: 10.1007/s10585-016-9783-0. [Epub ahead of print] PMID: 26913720Free PMC Article
Venkatramani R, Murray J, Helman L, Meyer W, Hicks MJ, Krance R, Lau C, Jo E, Chintagumpala M
Pediatr Blood Cancer 2016 Mar;63(3):412-7. Epub 2015 Oct 26 doi: 10.1002/pbc.25808. [Epub ahead of print] PMID: 26501936
Lin Z, Song D, Wei H, Yang X, Liu T, Yan W, Xiao J
J Cancer Res Clin Oncol 2016 Jan;142(1):239-46. Epub 2015 Aug 15 doi: 10.1007/s00432-015-2028-9. [Epub ahead of print] PMID: 26276504
Bertrand TE, Cruz A, Binitie O, Cheong D, Letson GD
Clin Orthop Relat Res 2016 Mar;474(3):677-83. doi: 10.1007/s11999-015-4359-x. PMID: 26013153Free PMC Article

Recent systematic reviews

Marko TA, Diessner BJ, Spector LG
Pediatr Blood Cancer 2016 Jun;63(6):1006-11. Epub 2016 Feb 29 doi: 10.1002/pbc.25963. [Epub ahead of print] PMID: 26929018Free PMC Article
Bertrand TE, Cruz A, Binitie O, Cheong D, Letson GD
Clin Orthop Relat Res 2016 Mar;474(3):677-83. doi: 10.1007/s11999-015-4359-x. PMID: 26013153Free PMC Article
Liu Y, Teng Z, Wang Y, Gao P, Chen J
Med Sci Monit 2015 Sep 25;21:2877-85. doi: 10.12659/MSM.894448. PMID: 26408642Free PMC Article
Yang M
J Cancer Res Ther 2015 Apr-Jun;11(2):264-7. doi: 10.4103/0973-1482.151428. PMID: 26148581
Kubo T, Shimose S, Fujimori J, Furuta T, Ochi M
Surg Oncol 2015 Sep;24(3):194-9. Epub 2015 Jun 12 doi: 10.1016/j.suronc.2015.06.009. [Epub ahead of print] PMID: 26092710

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