Autopsy and Case Reports
https://autopsyandcasereports.org/article/doi/10.4322/acr.2019.120
Autopsy and Case Reports
Article / Clinical Case Report

Metastatic poorly differentiated chordoma: the eyes do not see what the mind does not know

Omar I. Jaber; Maxim Al Ashhab

Downloads: 1
Views: 122

Abstract

Chordoma is a rare tumor. It has unique clinical, pathological and immunohistochemical characteristics. Accurate diagnosis is essential as the tumor shows an aggressive clinical course and requires a multimodal therapeutic approach. A case with wide spread distant metastatic disease that was initially thought to represent metastatic thyroid carcinoma is presented. Appropriate clincopathologic correlation and the histologic findings raised the possibility of poorly differentiated chordoma. The diagnosis was confirmed by immunohistochemistry for INI-1 and Brachyury. The approach to the diagnosis emphasizing the clinical and pathologic findings of this case is discussed and reviewed in the context of the published literature.

Keywords

Chordoma, Notochord, SMARCB1 Protein

References

Coffin CM, Swanson PE, Wick MR, Dehner LP. Chordoma in childhood and adolescence: a clinicopathologic analysis of 12 cases.

 

Arch Pathol Lab Med. 1993;117(9):927-33. [PMID:8368907]
 

 

Shih AR, Cote GM, Chebib I, et al. Clinicopathologic characteristics of poorly differentiated chordoma.

 

 

Mod Pathol. 2018;31(8):1237-45. [https://doi.org/10.1038/s41379-018-0002-1]. [PMID:29483606]
 

 

McMaster ML, Goldstein AM, Bromley CM, Ishibe N, Parry DM. Chordoma: incidence and survival patterns in the United States, 1973-1995.

 

 

Cancer Causes Control. 2001;12(1):1-11. [https://doi.org/10.1023/A:1008947301735]. [PMID:11227920]
 

 

Cha YJ, Hong CK, Kim DS, Lee SK, Park HJ, Kim SH. Poorly differentiated chordoma with loss of SMARCB1/INI1 expression in pediatric patients: a report of two cases and review of the literature.

 

 

Neuropathology. 2018;38(1):47-53. [https://doi.org/10.1111/neup.12407]. [PMID:28812319]
 

 

Hasselblatt M, Thomas C, Hovestadt V, et al. Poorly differentiated chordoma with SMARCB1/INI1 loss: a distinct molecular entity with dismal prognosis.

 

 

Acta Neuropathol. 2016;132(1):149-51. [https://doi.org/10.1007/s00401-016-1574-9]. [PMID:27067307]
 

 

Mobley BC, McKenney JK, Bangs CD, et al. Loss of SMARCB1/INI1 expression in poorly differentiated chordomas.

 

 

Acta Neuropathol. 2010;120(6):745-53. [https://doi.org/10.1007/s00401-010-0767-x]. [PMID:21057957]
 

 

Hoch BL, Nielsen GP, Liebsch NJ, Rosenberg AE. Base of skull chordomas in children and adolescents: a clinicopathologic study of 73 cases.

 

 

Am J Surg Pathol. 2006;30(7):811-8. [https://doi.org/10.1097/01.pas.0000209828.39477.ab]. [PMID:16819322]
 

 

Fletcher CD, Bridge JA, Hogendoorn PC, Mertens F, editors.

 

 

WHO classification of tumors of soft tissue and bone. Lyon: IARC; 2013.
 

 

Hornick JL.

 

 

Practical soft tissue pathology: a diagnostic approach. Philadelphia: Elsevier/Saunders; 2013.
 

 

Gleason BC, Fletcher CD. Myoepithelial carcinoma of soft tissue in children: an aggressive neoplasm analyzed in a series of 29 cases.

 

 

Am J Surg Pathol. 2007;31(12):1813-24. [https://doi.org/10.1097/PAS.0b013e31805f6775]. [PMID:18043035]
 

 

Hornick JL, Dal Cin P, Fletcher CD. Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma.

 

 

Am J Surg Pathol. 2009;33(4):542-50. [https://doi.org/10.1097/PAS.0b013e3181882c54]. [PMID:19033866]
 

 

Cheng JX, Tretiakova M, Gong C, Mandal S, Krausz T, Taxy JB. Renal medullary carcinoma: rhabdoid features and the absence of INI1 expression as markers of aggressive behavior.

 

 

Mod Pathol. 2008;21(6):647-52. [https://doi.org/10.1038/modpathol.2008.44]. [PMID:18327209]
 

 

Donner LR, Wainwright LM, Zhang F, Biegel JA. Mutation of the INI1 gene in composite rhabdoid tumor of the endometrium.

 

 

Hum Pathol. 2007;38(6):935-9. [https://doi.org/10.1016/j.humpath.2006.12.003]. [PMID:17376508]

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 


Publication date:
09/27/2019

5d8e4dc30e8825a364140c97 autopsy Articles
Links & Downloads

Autops Case Rep

Share this page
Page Sections