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Poorly Differentiated Chordoma

MedGen UID:
1791171
•Concept ID:
C5554730
•
Neoplastic Process

Definition

A rare, aggressive type of chordoma characterized by loss of SMARCB1 expression. It affects children and occasionally young adults. Females are affected twice as frequently as males. It usually arises in the axial skeleton. It is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm. The prognosis is poor. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPoorly Differentiated Chordoma

Professional guidelines

PubMed

Differential diagnosis of chordoma, chondroid, and ependymal tumors as aided by anti-intermediate filament antibodies.
Miettinen M, Lehto VP, Dahl D, Virtanen I
Am J Pathol 1983 Aug;112(2):160-9. PMID: 6192722Free PMC Article

Recent clinical studies

Etiology

Imaging of pituitary tumors: an update with the 5th WHO Classifications-part 2. Neoplasms other than PitNET and tumor-mimicking lesions.
Tsukamoto T, Miki Y
Jpn J Radiol 2023 Aug;41(8):808-829. Epub 2023 Mar 13 doi: 10.1007/s11604-023-01407-0. PMID: 36913010Free PMC Article
High sensitivity of FISH analysis in detecting homozygous SMARCB1 deletions in poorly differentiated chordoma: a clinicopathologic and molecular study of nine cases.
Owosho AA, Zhang L, Rosenblum MK, Antonescu CR
Genes Chromosomes Cancer 2018 Feb;57(2):89-95. Epub 2017 Nov 23 doi: 10.1002/gcc.22511. PMID: 29119645Free PMC Article
Secondary EWSR1 gene abnormalities in SMARCB1-deficient tumors with 22q11-12 regional deletions: Potential pitfalls in interpreting EWSR1 FISH results.
Huang SC, Zhang L, Sung YS, Chen CL, Kao YC, Agaram NP, Antonescu CR
Genes Chromosomes Cancer 2016 Oct;55(10):767-76. Epub 2016 Jun 24 doi: 10.1002/gcc.22376. PMID: 27218413Free PMC Article
Non-rhabdoid pediatric SMARCB1-deficient tumors: overlap between chordomas and malignant rhabdoid tumors?
Renard C, Pissaloux D, Decouvelaere AV, Bourdeaut F, Ranchère D
Cancer Genet 2014 Sep;207(9):384-9. Epub 2014 May 23 doi: 10.1016/j.cancergen.2014.05.005. PMID: 25053104

Diagnosis

Chordoma.
Ulici V, Hart J
Arch Pathol Lab Med 2022 Mar 1;146(3):386-395. doi: 10.5858/arpa.2020-0258-RA. PMID: 34319396
Notochordal Tumors.
Tirabosco R, O'Donnell P, Flanagan AM
Surg Pathol Clin 2021 Dec;14(4):619-643. Epub 2021 Jul 28 doi: 10.1016/j.path.2021.06.006. PMID: 34742484
Poorly differentiated chordoma: review of 53 cases.
Yeter HG, Kosemehmetoglu K, Soylemezoglu F
APMIS 2019 Sep;127(9):607-615. doi: 10.1111/apm.12978. PMID: 31243811
Molecular characteristics of poorly differentiated chordoma.
Shih AR, Chebib I, Deshpande V, Dickson BC, Iafrate AJ, Nielsen GP
Genes Chromosomes Cancer 2019 Nov;58(11):804-808. Epub 2019 Jun 13 doi: 10.1002/gcc.22782. PMID: 31135077
Clinicopathologic characteristics of poorly differentiated chordoma.
Shih AR, Cote GM, Chebib I, Choy E, DeLaney T, Deshpande V, Hornicek FJ, Miao R, Schwab JH, Nielsen GP, Chen YL
Mod Pathol 2018 Aug;31(8):1237-1245. Epub 2018 Feb 26 doi: 10.1038/s41379-018-0002-1. PMID: 29483606

Therapy

Recurrent loss of chromosome 22 and SMARCB1 deletion in extra-axial chordoma: A clinicopathological and molecular analysis.
Wen X, Cimera R, Aryeequaye R, Abhinta M, Athanasian E, Healey J, Fabbri N, Boland P, Zhang Y, Hameed M
Genes Chromosomes Cancer 2021 Dec;60(12):796-807. Epub 2021 Aug 26 doi: 10.1002/gcc.22992. PMID: 34392582Free PMC Article
Immunologic Correlates of the Abscopal Effect in a SMARCB1/INI1-negative Poorly Differentiated Chordoma after EZH2 Inhibition and Radiotherapy.
Gounder MM, Zhu G, Roshal L, Lis E, Daigle SR, Blakemore SJ, Michaud NR, Hameed M, Hollmann TJ
Clin Cancer Res 2019 Apr 1;25(7):2064-2071. Epub 2019 Jan 14 doi: 10.1158/1078-0432.CCR-18-3133. PMID: 30642912Free PMC Article
Non-rhabdoid pediatric SMARCB1-deficient tumors: overlap between chordomas and malignant rhabdoid tumors?
Renard C, Pissaloux D, Decouvelaere AV, Bourdeaut F, Ranchère D
Cancer Genet 2014 Sep;207(9):384-9. Epub 2014 May 23 doi: 10.1016/j.cancergen.2014.05.005. PMID: 25053104

Prognosis

Chordoma.
Ulici V, Hart J
Arch Pathol Lab Med 2022 Mar 1;146(3):386-395. doi: 10.5858/arpa.2020-0258-RA. PMID: 34319396
Notochordal Tumors.
Tirabosco R, O'Donnell P, Flanagan AM
Surg Pathol Clin 2021 Dec;14(4):619-643. Epub 2021 Jul 28 doi: 10.1016/j.path.2021.06.006. PMID: 34742484
SWI/SNF deficient central nervous system neoplasms.
Cai C
Semin Diagn Pathol 2021 May;38(3):167-174. Epub 2021 Mar 15 doi: 10.1053/j.semdp.2021.03.003. PMID: 33762087
Molecular characteristics of poorly differentiated chordoma.
Shih AR, Chebib I, Deshpande V, Dickson BC, Iafrate AJ, Nielsen GP
Genes Chromosomes Cancer 2019 Nov;58(11):804-808. Epub 2019 Jun 13 doi: 10.1002/gcc.22782. PMID: 31135077
Immunologic Correlates of the Abscopal Effect in a SMARCB1/INI1-negative Poorly Differentiated Chordoma after EZH2 Inhibition and Radiotherapy.
Gounder MM, Zhu G, Roshal L, Lis E, Daigle SR, Blakemore SJ, Michaud NR, Hameed M, Hollmann TJ
Clin Cancer Res 2019 Apr 1;25(7):2064-2071. Epub 2019 Jan 14 doi: 10.1158/1078-0432.CCR-18-3133. PMID: 30642912Free PMC Article

Clinical prediction guides

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
Immunologic Correlates of the Abscopal Effect in a SMARCB1/INI1-negative Poorly Differentiated Chordoma after EZH2 Inhibition and Radiotherapy.
Gounder MM, Zhu G, Roshal L, Lis E, Daigle SR, Blakemore SJ, Michaud NR, Hameed M, Hollmann TJ
Clin Cancer Res 2019 Apr 1;25(7):2064-2071. Epub 2019 Jan 14 doi: 10.1158/1078-0432.CCR-18-3133. PMID: 30642912Free PMC Article
Diffusion-weighted MRI: distinction of skull base chordoma from chondrosarcoma.
Yeom KW, Lober RM, Mobley BC, Harsh G, Vogel H, Allagio R, Pearson M, Edwards MS, Fischbein NJ
AJNR Am J Neuroradiol 2013 May;34(5):1056-61, S1. Epub 2012 Nov 1 doi: 10.3174/ajnr.A3333. PMID: 23124635Free PMC Article
Loss of SMARCB1/INI1 expression in poorly differentiated chordomas.
Mobley BC, McKenney JK, Bangs CD, Callahan K, Yeom KW, Schneppenheim R, Hayden MG, Cherry AM, Gokden M, Edwards MS, Fisher PG, Vogel H
Acta Neuropathol 2010 Dec;120(6):745-53. Epub 2010 Oct 30 doi: 10.1007/s00401-010-0767-x. PMID: 21057957

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