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Osteosarcoma(OSRC)

MedGen UID:
10501
Concept ID:
C0029463
Neoplastic Process
Synonym: Osteosarcoma (disease)
SNOMED CT: 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)
Modes of inheritance:
Somatic mutation
MedGen UID:
107465
Concept ID:
C0544886
Cell or Molecular Dysfunction
Sources: HPO, OMIM
A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation.
Somatic mutation (HPO, OMIM)
 
HPO: HP:0002669
OMIM®: 191170; 259500
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

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.
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.

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 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.
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.
Diamond-Blackfan anemia
MedGen UID:
266045
Concept ID:
C1260899
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.
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.

Recent clinical studies

Etiology

Oshiro H, Tome Y, Miyake K, Higuchi T, Sugisawa N, Kanaya F, Nishida K, Hoffman RM
Anticancer Res 2021 Jul;41(7):3287-3292. doi: 10.21873/anticanres.15115. PMID: 34230123
Lee SJ, Lans J, Cook SD, Chebib I, Schwab JH, Raskin KA, Lozano-Calderón S
J Surg Oncol 2021 Sep;124(4):646-654. Epub 2021 May 27 doi: 10.1002/jso.26531. PMID: 34043244
Hayes C, Douglass CW, Kim FM, Burgard SL, Couper D; National Osteosarcoma Etiology Group.
J Am Dent Assoc 2021 May;152(5):344-353.e10. Epub 2021 Mar 18 doi: 10.1016/j.adaj.2021.01.010. PMID: 33745682
Gusho CA, Miller I, Clayton B, Colman MW, Gitelis S, Blank AT
J Surg Oncol 2021 Jun;123(7):1624-1632. Epub 2021 Feb 23 doi: 10.1002/jso.26445. PMID: 33621357
Hız M, Karaismailoglu B, Ulutas S, Camurdan VB, Gorgun B, Oner Dincbas F
Arch Orthop Trauma Surg 2021 Jul;141(7):1083-1089. Epub 2020 Jun 6 doi: 10.1007/s00402-020-03494-4. PMID: 32506177

Diagnosis

Yang M, Ma X, Wang Z, Zhang T, Hua Y, Cai Z
Aging (Albany NY) 2021 May 5;13(9):12896-12918. doi: 10.18632/aging.202958. PMID: 33952718Free PMC Article
Lu B, Feng Z, Fan B, Shi Y
Bull Cancer 2021 Jun;108(6):596-604. Epub 2021 Apr 15 doi: 10.1016/j.bulcan.2021.01.006. PMID: 33863546
Hayes C, Douglass CW, Kim FM, Burgard SL, Couper D; National Osteosarcoma Etiology Group.
J Am Dent Assoc 2021 May;152(5):344-353.e10. Epub 2021 Mar 18 doi: 10.1016/j.adaj.2021.01.010. PMID: 33745682
Boye K, Longhi A, Guren T, Lorenz S, Næss S, Pierini M, Taksdal I, Lobmaier I, Cesari M, Paioli A, Løndalen AM, Setola E, Hompland I, Meza-Zepeda LA, Sundby Hall K, Palmerini E
Cancer Immunol Immunother 2021 Sep;70(9):2617-2624. Epub 2021 Feb 12 doi: 10.1007/s00262-021-02876-w. PMID: 33580363Free PMC Article
Hız M, Karaismailoglu B, Ulutas S, Camurdan VB, Gorgun B, Oner Dincbas F
Arch Orthop Trauma Surg 2021 Jul;141(7):1083-1089. Epub 2020 Jun 6 doi: 10.1007/s00402-020-03494-4. PMID: 32506177

Therapy

Xue Y, Zhang G, Zhou S, Wang S, Lv H, Zhou L, Shang P
Int J Mol Sci 2021 Jul 2;22(13) doi: 10.3390/ijms22137168. PMID: 34281233Free PMC Article
Liu Y, Raina DB, Sebastian S, Nagesh H, Isaksson H, Engellau J, Lidgren L, Tägil M
Acta Biomater 2021 Sep 1;131:555-571. Epub 2021 Jul 13 doi: 10.1016/j.actbio.2021.07.016. PMID: 34271171
Oshiro H, Tome Y, Miyake K, Higuchi T, Sugisawa N, Kanaya F, Nishida K, Hoffman RM
Anticancer Res 2021 Jul;41(7):3287-3292. doi: 10.21873/anticanres.15115. PMID: 34230123
Hayes C, Douglass CW, Kim FM, Burgard SL, Couper D; National Osteosarcoma Etiology Group.
J Am Dent Assoc 2021 May;152(5):344-353.e10. Epub 2021 Mar 18 doi: 10.1016/j.adaj.2021.01.010. PMID: 33745682
Boye K, Longhi A, Guren T, Lorenz S, Næss S, Pierini M, Taksdal I, Lobmaier I, Cesari M, Paioli A, Løndalen AM, Setola E, Hompland I, Meza-Zepeda LA, Sundby Hall K, Palmerini E
Cancer Immunol Immunother 2021 Sep;70(9):2617-2624. Epub 2021 Feb 12 doi: 10.1007/s00262-021-02876-w. PMID: 33580363Free PMC Article

Prognosis

Liu Y, Raina DB, Sebastian S, Nagesh H, Isaksson H, Engellau J, Lidgren L, Tägil M
Acta Biomater 2021 Sep 1;131:555-571. Epub 2021 Jul 13 doi: 10.1016/j.actbio.2021.07.016. PMID: 34271171
Wu B, Yang W, Fu Z, Xie H, Guo Z, Liu D, Ge J, Zhong S, Liu L, Liu J, Zhu D
Aging (Albany NY) 2021 Jun 21;13(12):16425-16444. doi: 10.18632/aging.203165. PMID: 34156352Free PMC Article
Lee SJ, Lans J, Cook SD, Chebib I, Schwab JH, Raskin KA, Lozano-Calderón S
J Surg Oncol 2021 Sep;124(4):646-654. Epub 2021 May 27 doi: 10.1002/jso.26531. PMID: 34043244
Gusho CA, Miller I, Clayton B, Colman MW, Gitelis S, Blank AT
J Surg Oncol 2021 Jun;123(7):1624-1632. Epub 2021 Feb 23 doi: 10.1002/jso.26445. PMID: 33621357
Hız M, Karaismailoglu B, Ulutas S, Camurdan VB, Gorgun B, Oner Dincbas F
Arch Orthop Trauma Surg 2021 Jul;141(7):1083-1089. Epub 2020 Jun 6 doi: 10.1007/s00402-020-03494-4. PMID: 32506177

Clinical prediction guides

Xue Y, Zhang G, Zhou S, Wang S, Lv H, Zhou L, Shang P
Int J Mol Sci 2021 Jul 2;22(13) doi: 10.3390/ijms22137168. PMID: 34281233Free PMC Article
Oshiro H, Tome Y, Miyake K, Higuchi T, Sugisawa N, Kanaya F, Nishida K, Hoffman RM
Anticancer Res 2021 Jul;41(7):3287-3292. doi: 10.21873/anticanres.15115. PMID: 34230123
Lee SJ, Lans J, Cook SD, Chebib I, Schwab JH, Raskin KA, Lozano-Calderón S
J Surg Oncol 2021 Sep;124(4):646-654. Epub 2021 May 27 doi: 10.1002/jso.26531. PMID: 34043244
Gusho CA, Miller I, Clayton B, Colman MW, Gitelis S, Blank AT
J Surg Oncol 2021 Jun;123(7):1624-1632. Epub 2021 Feb 23 doi: 10.1002/jso.26445. PMID: 33621357
Boye K, Longhi A, Guren T, Lorenz S, Næss S, Pierini M, Taksdal I, Lobmaier I, Cesari M, Paioli A, Løndalen AM, Setola E, Hompland I, Meza-Zepeda LA, Sundby Hall K, Palmerini E
Cancer Immunol Immunother 2021 Sep;70(9):2617-2624. Epub 2021 Feb 12 doi: 10.1007/s00262-021-02876-w. PMID: 33580363Free PMC Article

Recent systematic reviews

Liu L, Zhang X, Li C, Qu Y
Medicine (Baltimore) 2021 Aug 13;100(32):e26923. doi: 10.1097/MD.0000000000026923. PMID: 34397935Free PMC Article
Zeng M, Zhou J, Wen L, Zhu Y, Luo Y, Wang W
BMC Cancer 2021 Mar 1;21(1):210. doi: 10.1186/s12885-021-07880-y. PMID: 33648449Free PMC Article
Lin Z, Xie X, Lu S, Liu T
Cancer Lett 2021 Apr 28;504:91-103. Epub 2021 Feb 12 doi: 10.1016/j.canlet.2021.02.007. PMID: 33587978
Zhong J, Hu Y, Si L, Jia G, Xing Y, Zhang H, Yao W
Eur Radiol 2021 Mar;31(3):1526-1535. Epub 2020 Sep 2 doi: 10.1007/s00330-020-07221-w. PMID: 32876837
Liu M, Yang P, Mao G, Deng J, Peng G, Ning X, Yang H, Sun H
Int J Surg 2019 Dec;72:206-213. Epub 2019 Nov 15 doi: 10.1016/j.ijsu.2019.11.004. PMID: 31734255

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