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Extraskeletal myxoid chondrosarcoma

MedGen UID:
220892
•Concept ID:
C1275278
•
Neoplastic Process
Synonym: Chondrosarcoma, Extraskeletal Myxoid
SNOMED CT: Extraskeletal myxoid chondrosarcoma (404079008); Chondroid sarcoma (404079008)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Genes (locations): NR4A3 (9q31.1); TAF15 (17q12)
 
Monarch Initiative: MONDO:0012825
OMIM®: 612237
Orphanet: ORPHA209916

Definition

Extraskeletal myxoid chondrosarcoma is a rare soft tissue neoplasm of chondroblastic origin. The tumors are most commonly found in middle-aged and elderly individuals, are more common among men, and are often detected as deep-seated lesions in the extremities. Despite their relatively low-grade malignancy, recurrence and metastasis may appear many years after the initial diagnosis. Histologic tissue section examination reveals a mixture of cellular and myxoid stromal components (Panagopoulos et al., 2002). [from OMIM]

Clinical features

From HPO
Chondrosarcoma
MedGen UID:
3054
•Concept ID:
C0008479
•
Neoplastic Process
A slowly growing malignant neoplasm derived from cartilage cells.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Extraskeletal Myxoid Chondrosarcoma: Retrospective Case Series Examining Prognostic Factors, Treatment Approaches, and Oncologic Outcomes.
Brodsky CN, Bucala MD, Abdulfatah EM, Siegel GW
Am J Clin Oncol 2023 Apr 1;46(4):172-177. Epub 2023 Feb 24 doi: 10.1097/COC.0000000000000988. PMID: 36825763
Differential diagnosis of myxoid soft tissue tumors. Experience in the Clinical University Hospital of Valencia.
Alfaro-Cervelló C, Nieto G, Navarro S
Rev Esp Patol 2022 Jul-Sep;55(3):185-191. Epub 2019 Nov 4 doi: 10.1016/j.patol.2019.07.005. PMID: 35779885
SWI/SNF Complex-Deficient Soft Tissue Neoplasms: A Pattern-Based Approach to Diagnosis and Differential Diagnosis.
Agaimy A
Surg Pathol Clin 2019 Mar;12(1):149-163. doi: 10.1016/j.path.2018.10.006. PMID: 30709441

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Soft Tissue Sarcoma, 2024

Recent clinical studies

Etiology

Extraskeletal myxoid chondrosarcoma: Clinical features and overall survival.
Brown JM, Rakoczy K, Pretell-Mazzini J
Cancer Treat Res Commun 2022;31:100530. Epub 2022 Feb 5 doi: 10.1016/j.ctarc.2022.100530. PMID: 35144048
Primary intracranial extraskeletal myxoid chondrosarcoma.
Dulou R, Chargari C, Dagain A, Teriitehau C, Goasguen O, Jeanjean O, Védrine L
Neurol Neurochir Pol 2012 Jan-Feb;46(1):76-81. doi: 10.5114/ninp.2012.27176. PMID: 22426765
Update on chondrosarcomas.
Chow WA
Curr Opin Oncol 2007 Jul;19(4):371-6. doi: 10.1097/CCO.0b013e32812143d9. PMID: 17545802
Extraskeletal myxoid chondrosarcoma.
McGrory JE, Rock MG, Nascimento AG, Oliveira AM
Clin Orthop Relat Res 2001 Jan;(382):185-90. doi: 10.1097/00003086-200101000-00025. PMID: 11153986
Extraskeletal myxoid chondrosarcoma. An analysis of 34 cases.
Enzinger FM, Shiraki M
Hum Pathol 1972 Sep;3(3):421-35. doi: 10.1016/s0046-8177(72)80042-x. PMID: 4261659

Diagnosis

PRAME immunohistochemistry in soft tissue tumors and mimics: a study of 350 cases highlighting its imperfect specificity but potentially useful diagnostic applications.
Cammareri C, Beltzung F, Michal M, Vanhersecke L, Coindre JM, Velasco V, Le Loarer F, Vergier B, Perret R
Virchows Arch 2023 Aug;483(2):145-156. Epub 2023 Jul 21 doi: 10.1007/s00428-023-03606-6. PMID: 37477762
Extraskeletal Myxoid Chondrosarcomas: The Uncommon Clinicopathologic Manifestations and Significance of TAF15::NR4A3 Fusion.
Huang SC, Lee JC, Hsu YC, Tsai JW, Kao YC, Hsieh TH, Chang YM, Chang KC, Wu PS, Chen PC, Chen CH, Chang CD, Lee PH, Tai HC, Liu TT, Wen MC, Li WS, Yu SC, Wang JC, Huang HY
Mod Pathol 2023 Jul;36(7):100161. Epub 2023 Mar 21 doi: 10.1016/j.modpat.2023.100161. PMID: 36948401
SWI/SNF Complex-Deficient Soft Tissue Neoplasms: A Pattern-Based Approach to Diagnosis and Differential Diagnosis.
Agaimy A
Surg Pathol Clin 2019 Mar;12(1):149-163. doi: 10.1016/j.path.2018.10.006. PMID: 30709441
Primary intracranial extraskeletal myxoid chondrosarcoma.
Dulou R, Chargari C, Dagain A, Teriitehau C, Goasguen O, Jeanjean O, Védrine L
Neurol Neurochir Pol 2012 Jan-Feb;46(1):76-81. doi: 10.5114/ninp.2012.27176. PMID: 22426765
Extraskeletal myxoid chondrosarcoma of the epiglottis: case report and review of the literature.
Wilkinson AH 3rd, Beckford NS, Babin RW, Parham DM
Otolaryngol Head Neck Surg 1991 Feb;104(2):257-60. doi: 10.1177/019459989110400217. PMID: 1901157

Therapy

Identification of Novel PGR-NR4A3 Fusion in Extraskeletal Myxoid Chondrosarcoma and Resultant Patient Benefit From Tamoxifen Therapy.
Wilbur HC, Robinson DR, Wu YM, Kumar-Sinha C, Chinnaiyan AM, Chugh R
JCO Precis Oncol 2022 Aug;6:e2200039. doi: 10.1200/PO.22.00039. PMID: 36103645Free PMC Article
Pazopanib for treatment of advanced extraskeletal myxoid chondrosarcoma: a multicentre, single-arm, phase 2 trial.
Stacchiotti S, Ferrari S, Redondo A, Hindi N, Palmerini E, Vaz Salgado MA, Frezza AM, Casali PG, Gutierrez A, Lopez-Pousa A, Grignani G, Italiano A, LeCesne A, Dumont S, Blay JY, Penel N, Bernabeu D, de Alava E, Karanian M, Morosi C, Brich S, Dagrada GP, Vallacchi V, Castelli C, Brenca M, Racanelli D, Maestro R, Collini P, Cruz J, Martin-Broto J
Lancet Oncol 2019 Sep;20(9):1252-1262. Epub 2019 Jul 19 doi: 10.1016/S1470-2045(19)30319-5. PMID: 31331701
Activity of sunitinib in extraskeletal myxoid chondrosarcoma.
Stacchiotti S, Pantaleo MA, Astolfi A, Dagrada GP, Negri T, Dei Tos AP, Indio V, Morosi C, Gronchi A, Colombo C, Conca E, Toffolatti L, Tazzari M, Crippa F, Maestro R, Pilotti S, Casali PG
Eur J Cancer 2014 Jun;50(9):1657-64. Epub 2014 Apr 2 doi: 10.1016/j.ejca.2014.03.013. PMID: 24703573
Emerging therapies for adult soft tissue sarcoma.
Radaelli S, Stacchiotti S, Casali PG, Gronchi A
Expert Rev Anticancer Ther 2014 Jun;14(6):689-704. Epub 2014 Feb 20 doi: 10.1586/14737140.2014.885840. PMID: 24555529
Metastases to the liver from extraskeletal myxoid chondrosarcoma and successful treatment with percutaneous ethanol injection.
Ryan JM, Dupuy DE, Pitman M, Boland GW, Hahn PF, Mueller PR
Clin Radiol 2000 Apr;55(4):314-7. doi: 10.1053/crad.1999.0076. PMID: 10767194

Prognosis

Extraskeletal Myxoid Chondrosarcomas: The Uncommon Clinicopathologic Manifestations and Significance of TAF15::NR4A3 Fusion.
Huang SC, Lee JC, Hsu YC, Tsai JW, Kao YC, Hsieh TH, Chang YM, Chang KC, Wu PS, Chen PC, Chen CH, Chang CD, Lee PH, Tai HC, Liu TT, Wen MC, Li WS, Yu SC, Wang JC, Huang HY
Mod Pathol 2023 Jul;36(7):100161. Epub 2023 Mar 21 doi: 10.1016/j.modpat.2023.100161. PMID: 36948401
SWI/SNF Complex-Deficient Soft Tissue Neoplasms: A Pattern-Based Approach to Diagnosis and Differential Diagnosis.
Agaimy A
Surg Pathol Clin 2019 Mar;12(1):149-163. doi: 10.1016/j.path.2018.10.006. PMID: 30709441
Update on chondrosarcomas.
Chow WA
Curr Opin Oncol 2007 Jul;19(4):371-6. doi: 10.1097/CCO.0b013e32812143d9. PMID: 17545802
Extraskeletal myxoid chondrosarcoma.
McGrory JE, Rock MG, Nascimento AG, Oliveira AM
Clin Orthop Relat Res 2001 Jan;(382):185-90. doi: 10.1097/00003086-200101000-00025. PMID: 11153986
Extraskeletal myxoid chondrosarcoma. An analysis of 34 cases.
Enzinger FM, Shiraki M
Hum Pathol 1972 Sep;3(3):421-35. doi: 10.1016/s0046-8177(72)80042-x. PMID: 4261659

Clinical prediction guides

Keratin-positive fibrotic extraskeletal myxoid chondrosarcoma: a close mimic of myoepithelial tumour.
Sugino H, Iwata S, Satomi K, Mori T, Nobusawa S, Nagashima T, Matsushita Y, Yatabe Y, Ichimura K, Kawai A, Yoshida A
Histopathology 2023 May;82(6):937-945. Epub 2023 Feb 27 doi: 10.1111/his.14882. PMID: 36754860
Extraskeletal myxoid chondrosarcoma: Clinicopathological features and outcomes from the United States sarcoma collaborative database.
Gusho CA, King D, Ethun CG, Cardona K, Harrison Howard J, Tran TB, Poultsides G, Tseng J, Roggin KK, Fields RC, Cullinan DR, Chouliaras K, Votanopoulos K, Grignol VP, Bedi M
J Surg Oncol 2022 Dec;126(8):1533-1542. Epub 2022 Aug 13 doi: 10.1002/jso.27062. PMID: 35962783
Extraskeletal myxoid chondrosarcoma: Clinical features and overall survival.
Brown JM, Rakoczy K, Pretell-Mazzini J
Cancer Treat Res Commun 2022;31:100530. Epub 2022 Feb 5 doi: 10.1016/j.ctarc.2022.100530. PMID: 35144048
SWI/SNF complex-deficient soft tissue neoplasms: An update.
Schaefer IM, Hornick JL
Semin Diagn Pathol 2021 May;38(3):222-231. Epub 2020 Jun 5 doi: 10.1053/j.semdp.2020.05.005. PMID: 32646614Free PMC Article
Next generation sequencing of extraskeletal myxoid chondrosarcoma.
Davis EJ, Wu YM, Robinson D, Schuetze SM, Baker LH, Athanikar J, Cao X, Kunju LP, Chinnaiyan AM, Chugh R
Oncotarget 2017 Mar 28;8(13):21770-21777. doi: 10.18632/oncotarget.15568. PMID: 28423517Free PMC Article

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    Curated

    • NCCN, 2024
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Soft Tissue Sarcoma, 2024

    Reviews

    Related information

    • Gene
      Related information in NCBI Gene
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    • GTR(Clinical)
      Clinical tests in GTR
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