chordoma
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Introduction
tumor from notochord remnants, occur along pathway of primitive notochord extending from dorsum sellae to coccyx.
Epidemiology
- 1-4% of malignant bone tumors
- involves axial spine
Pathology
- derived from notochordal remnants
- extradural multilobulated tumors
- cordlike rows of physaliphorous cells (highly vacuolated)
- mucoid or myxoid background
- cartilage formation may be seen (chondroid chordoma)
- cellularity, pleomorphism, mitoses not predictive of tumor aggressiveness
- subtypes:
- conventional chordoma
- chondroid chordoma (maybe subtype of conventional chordoma)
- dedifferentiated or sarcomatoid chordoma
- poorly differentiated chordoma[7]
Immunophenotype
- brachyury +[7]
- S100 +
- pan-keratin (CAM5.2, AE1/AE3) +
- low molecular weight cytokeratins (CK8, CK18, CK19) +
- CK7 & CK20 -
- EMA +
- N-cadherin +
- E-cadherin variable[4][5]
- markers may be lost in dedifferentiated or sarcomatoid portions of tumor[7].
Genetics
- autosomal dominant brachyury protein (TBXT) gene duplication involved in familial susceptibility to the development of chordoma
- a common genetic variant of TBXT found in familial cases & associated with increased risk in non-familial cases[9]
- CDKN2A & CDKN2B homozygous or heterozygous loss in 70%
- EGFR amplification in 40%, increased EGFR expression in 69%
- MET overexpression in high percent[7]
Clinical manifestations
- low to intermediate grade malignant tumor
- chordomas occur along the length of the spinal axis, predominantly in the sphenooccipital, vertebral & sacrococcygeal regions
- they are characterized by slow growth, local destruction of bone, extension into adjacent soft tissues & rarely, distant metastases
Radiology
- solitary central lytic destructive lesions of axial skeleton
- hypo or isointense on T-1 weighted MRI
- high signal intensity on T-2 weighted MRI
Differential diagnosis
- basal meningioma
- schwannoma
- nasopharyngeal carcinoma
- pituitary adenoma
- craniopharyngioma
- chondroid neoplasm: Chondrosarcomas tend to stain negatively with antibodies for cytokeratins and cadherins. Chondrosarcoma & chondroid chordoma stain positively for S100 and vimentin. Occasional S100 + cells persist in spindle cell or dedifferentiated areas of chordoma
Management
- Surgical resection constitutes the mainstay of treatment[8].
- Chordomas tend to be insensitive to traditional chemotherapy & conventional radiotherapy.
More general terms
References
- ↑ WHO International Histological Classification of Tumors. Histological Typing of Tumours of the Central Nervous System. Kleihues et al. Springer-Verlag 2nd ed. 1993
- ↑ Cancer, Principles and Practice of Oncology; 6th ed. deVita et al (eds); Lippincott, Williams & Wilkins, 2001, pg 2149-50
- ↑ WHO Classification Tumours of Soft Tissue and Bone. IARC Press 2002
- ↑ 4.0 4.1 Laskin & Miettinen. Arch Pathol Lab Med 126:425-31, 2002
- ↑ 5.0 5.1 Naka et al. J Clin Pathol 54:945-50, 2001
- ↑ Chordoma Tenny S and Varacallo M. StatPearls https://www.ncbi.nlm.nih.gov/books/NBK430846/
- ↑ 7.0 7.1 7.2 7.3 7.4 Chordoma Ulici V, Hart J. Arch Pathol Lab Med. 2022 Mar 1;146(3):386-395. doi:http://dx.doi.org/ 10.5858/arpa.2020-0258-RA. PMID: https://www.ncbi.nlm.nih.gov/pubmed/34319396
- ↑ 8.0 8.1 Chordoma-Current Understanding and Modern Treatment Paradigms. Barber SM, Sadrameli SS, Lee JJ, et al. J Clin Med. 2021 Mar 4;10(5):1054. doi:http://dx.doi.org/ 10.3390/jcm10051054. PMID: https://www.ncbi.nlm.nih.gov/pubmed/33806339
- ↑ 9.0 9.1 OMIM 601397 https://omim.org/entry/601397