Nasal cavity, paranasal sinuses, nasopharynx
Sinonasal carcinoma
Teratocarcinosarcoma
Editorial Board Member: Bin Xu, M.D., Ph.D.
Deputy Editor-in-Chief: Kelly Magliocca, D.D.S., M.P.H.
Last author update: 29 August 2024
Last staff update: 29 August 2024
Copyright: 2004-2024, PathologyOutlines.com, Inc.
PubMed Search: Teratocarcinosarcoma
Table of Contents
Definition / general | Essential features | Terminology | ICD coding | Epidemiology | Sites | Pathophysiology | Etiology | Diagrams / tables | Clinical features | Diagnosis | Radiology description | Radiology images | Prognostic factors | Case reports | Treatment | Clinical images | Gross description | Gross images | Microscopic (histologic) description | Microscopic (histologic) images | Positive stains | Negative stains | Molecular / cytogenetics description | Molecular / cytogenetics images | Sample pathology report | Differential diagnosis | Additional references | Board review style question #1 | Board review style answer #1 | Board review style question #2 | Board review style answer #2Cite this page: Waqas O, Raza M, Ud Din N. Teratocarcinosarcoma. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/nasalteratoidcarcinosarcoma.html. Accessed December 18th, 2024.
Definition / general
- Teratocarcinosarcoma (TCS) is a malignant sinonasal tract neoplasm containing mixed epithelial, mesenchymal and primitive neuroepithelial elements
Essential features
- Aggressive neoplasm with predilection for anterior skull base location
- Disease of middle age that commonly affects men
- Characteristic fetal-like clear cell appearance in squamous epithelial component with teratoid and sarcomatoid elements
- Loss of BRG1 (SMARCA4) nuclear expression in majority of the cases (Turk Neurosurg 2017;27:468)
- Frequent local recurrence in first 2 years (Rare Tumors 2023;15:20363613231204047)
Terminology
- Teratocarcinosarcoma (current WHO 5th edition; recommended)
- Teratoid carcinosarcoma (not recommended)
ICD coding
- ICD-O: 9081/3 - teratocarcinosarcoma
Epidemiology
- Rare malignancy (< 150 cases reported to date)
- Primarily affects middle aged adults
- Wide age range (10 - 80 years); median: 54.7 years
- Exceedingly rare under 20 years
- Strong male predominance (J Int Med Res 2020;48:300060520971488)
Sites
- Nasal cavity and paranasal sinuses (anterior skull base cancer)
- Commonly involves ethmoid sinus (50%) followed by maxillary sinus (BMJ Case Rep 2022;15:e252429)
- In rare instances, involvement of orbit, cribriform plate, nasopharynx and oral cavity (Int J Surg Pathol 2013;21:37)
Pathophysiology
- SWI / SNF complex subunit deficiency (SMARCA4)
- SMARCA4 (chromatin remodeling SWI / SNF complex component) inactivation leads to cellular lineage differentiation and proliferation (Cells 2023;13:81)
- Dysregulation in Wnt / beta catenin signaling pathway
- Activating pS45F mutation in CTNNB1 (beta catenin) leads to cell proliferation (particularly mesenchymal component) (J Neurol Surg B Skull Base 2017;78:346)
Etiology
- No risk factor or tumor predisposition syndrome associations are currently known
Diagrams / tables
- See Molecular / cytogenetics images section
Clinical features
- Nasal obstruction and epistaxis (most common) due to mass effect (Am J Rhinol Allergy 2021;35:132)
- Headache, nausea and vomiting also due to mass effect
- Visual impairment, abnormal behavior and confusion (orbital and cranial extension / involvement) (Ear Nose Throat J 2022 Oct 18 [Epub ahead of print])
- Hyposmia / anosmia, facial swelling and proptosis
Diagnosis
- Imaging
- PET CT scan and MRI of head and neck to assess the local destruction and extension (J Int Med Res 2020;48:300060520971488)
- Nasal endoscopy
- To visualize the mass and lesional tissue sampling for histologic diagnosis
Radiology description
- PET / CT: an expansile, hypermetabolic mass (Turk Neurosurg 2017;27:468)
- MRI (fat suppressed)
- Hypointense (T1 weighted) isointense (T2 weighted) heterogenous mass with homogenous postcontrast enhancement (Turk Neurosurg 2017;27:468)
Radiology images
Contributed by Nasir Ud Din, M.B.B.S.
CT scan plain
Images hosted on other servers:
MRI T1 and T2 weighted
Brain MRI with gadolinium scan
PET / CT
Prognostic factors
- Size, cranial / brain extension and distant metastases at the time of presentation
- Residual disease (postoperative) (Am J Rhinol Allergy 2021;35:132)
Case reports
- 28 year old man with right sided nasal obstruction for 3 months and recurrent epistaxis (J Oral Maxillofac Pathol 2016;20:147)
- 46 year old woman presented with a growth on the inner side of the cheek that had grown rapidly in 3 weeks (J Surg Case Rep 2022;2022:rjac169)
- 48 year old man presented with left sided nasal obstruction for 3 years along with discharge, hyposmia and visual impairment (Ear Nose Throat J 2022 Oct 18 [Online ahead of print])
- 50 year old man presented in ear, nose, throat (ENT) outpatient department with intermittent left sided epistaxis and dizziness for last 1 year (J Nutr 1987;117:758)
- 52 year old woman presented with progressive maxillofacial swelling and blurred vision in both eyes, previously treated for sinusitis, suspicion of invasive fungal sinusitis (Ann R Coll Surg Engl 2021;103:e193)
Treatment
- Small sized lesions by endoscopic sinus surgery (Pathologica 2021;113:469)
- Lesions with orbital extension and cribriform plate involvement require radical surgery followed by radiation (Am J Otolaryngol 2014;35:5)
Clinical images
Images hosted on other servers:
Transnasal endoscopy
Gross description
- Solid / firm grayish yellow cut surface (J Oral Maxillofac Pathol 2016;20:147)
Gross images
Images hosted on other servers:
Grayish yellow firm tissue pieces
Microscopic (histologic) description
- Tumor comprises an admixture of epithelial, mesenchymal and neuroepithelial elements
- Epithelial component: squamous epithelium (keratinized or nonkeratinized) with peculiar fetal-like clear cell appearance or glandular structures (mucinous or ciliated)
- Mesenchymal component: hypercellular fascicles of spindle cells that can show smooth muscle, rhabdomyoblastic, chondroid / osteoblastic (common) or adipocytic differentiation
- Neuroepithelial component: sheet and nests of primitive epithelioid cells with enlarged hyperchromatic nuclei, fibrillary background and rosette formation
- Cytologic atypia is variable, ranging from bland to overtly malignant in both epithelial and mesenchymal components (J Int Med Res 2020;48:300060520971488)
- Neuronal maturation can be seen as posttherapy changes
Microscopic (histologic) images
Contributed by Nasir Ud Din, M.B.B.S.
Biphasic tumor
Primitive neuroepithelial areas
Characteristic fetal-like epithelial areas
Epithelial areas
Neuroepithelial areas
CK5/6
Synaptophysin
Positive stains
- CK5/6: cytoplasmic staining in neoplastic squamous epithelial cells
- Synaptophysin and chromogranin A: cytoplasmic staining in primitive neuroepithelial cells
- BRG1 stain: loss of nuclear expression in tumor cells
- Beta catenin: nuclear staining in neoplastic epithelial cells (aberrant pattern in small subset of TCS cases) (Turk Neurosurg 2017;27:468, J Neurol Surg B Skull Base 2017;78:346)
Negative stains
Molecular / cytogenetics description
- Biallelic inactivation of SMARCA4 (most common) (Cells 2023;13:81)
- Activating CTNNB1 mutation (second common)
Sample pathology report
- Mass left nasopharynx, biopsy:
- Sinonasal teratocarcinosarcoma (see comment)
- Comment: The biopsy shows mixture of epithelial, mesenchymal and neuroepithelial components. The presence of fetal-like clear cell appearance in the epithelial islands and loss of SMARCA4 (BRG1) stain in the tumor are consistent with the above diagnosis. The tumor has propensity for lung metastases.
Differential diagnosis
- Limited biopsy may not contain all 3 elements and poses a diagnostic challenge
- Olfactory neuroblastoma (ONB):
- Anosmia (common symptom), nasal obstruction and epistaxis (Head Neck Pathol 2016;10:256)
- Cribriform plate involvement is most common; ectopic tumors in paranasal sinuses are rare (except in recurrence)
- Male predilection
- Peak in fifth and sixth decades of life
- Microscopy: submucosal well demarcated nests and lobules of primitive neural cells separated by rich vascular stroma and presence of Homer Wright rosettes (low grade ONB)
- Divergent differentiation to epithelial elements is a diagnostic challenge between TCS and ONB
- Retained nuclear expression of SMARCA4 and somatostatin 2 receptor (SSRT2) will favor the diagnosis of ONB
- SWI / SNF complex deficient sinonasal carcinoma:
- Orbit and skull base involvement is frequent
- Male predominance
- Peak age sixth decade
- Biopsy is usually soft, fragile and necrotic unlike TCS, which is firm, grayish white tumor on gross
- Microscopy
- SMARCB1 deficient carcinoma: monomorphic basaloid and rhabdoid / plasmacytoid cell morphology without differentiated epithelial elements and surface epithelial dysplasia (Head Neck Pathol 2017;11:541)
- SMARCB1 deficient adenocarcinoma: yolk sac-like areas or oncocytic / plasmacytoid cells with prominent glandular differentiation (tubules, cribrforming with intracellular or intraluminal mucin) and marked nuclear pleomorphism and high grade cytologic atypia
- SMARCA4 deficient carcinoma: undifferentiated carcinoma-like morphology with anaplastic epithelioid cells, absence of squamous / glandular and sarcomatous elements (differentiating point from TCS)
- Adamantinomatous craniopharyngioma:
- Rarely involves sinonasal tract
- Bimodal age distribution
- Imaging: solid and cystic tumor with prominent calcification and contrast enhancing cyst wall (> 90% of cases)
- Epithelial islands with basal palisading, wet keratin and calcification
- Absence of neuroepithelial and mesenchymal elements (Acta Neuropathol Commun 2016;4:20)
- Melanoma:
- Head and neck, nasal cavity / septum and maxillary sinus are common sites
- Nasal endoscopy: pigmented polypoidal mass
- Microscopy
- Polymorphic tumor cell population: spindled, epithelioid, rhabdoid, clear and undifferentiated cell morphology
- HMB45+ (Head Neck Pathol 2016;10:298)
- Teratoma:
- Extremely rare in head and neck region; preferentially in oronasaopharyngeal region
- Occurs in pediatric age group (particularly first year of life) but rare in adults (BMC Ear Nose Throat Disord 2008;8:8)
- Presents as nasal cavity mass (solid and cystic with calcifications) (J Med Case Rep 2012;6:147)
- Microscopy: mixture or epithelial (squamous epithelial nests and glandular structures) and mesenchymal (mature bone, cartilage and adipose tissue) components
- Primitive neuroepithelial tissue can be present
- Intact nuclear expression of BRG1 stain and positive SALL4 stain
Additional references
Board review style question #1
A middle aged man presented in ear, nose, throat (ENT) clinic with a history of off and on nasal obstruction for last 6 months. Nasal endoscopy shows a polypoidal tumor in the nasal cavity. The histopathology examination shows an infiltrating tumor displaying malignant looking squamous epithelial areas with clear cell change, intermixed nests of immature rounded cells and cellular spindle cell areas. The tumor also shows loss of SMARCA4 nuclear expression. The tumor can be differentiated from the SMARCA4 deficient carcinoma by the presence of which of the following features?
- Anaplasia
- Brisk mitotic activity
- Positivity of pancytokeratins
- Positivity of synaptophysin
- Teratoid elements
Board review style answer #1
E. Teratoid elements. The histologic findings described above are characteristic of teratocarcinosarcoma, displaying all 3 elements.
Answers C and D are incorrect because both tumors can show reactivity to pancytokeratins and synaptophysin. Answers A and B are also incorrect because anaplasia and mitoses are present in both tumor types.
Comment Here
Reference: Teratocarcinosarcoma (TCS)
Comment Here
Reference: Teratocarcinosarcoma (TCS)
Board review style question #2
A 40 year old man presented with anosmia and nasal obstruction. MRI shows an expansile mass involving the cribriform plate. The biopsy shows a tumor in the submucosa that comprises nests and lobules of primitive neuroepithelial cells. There are admixed epithelial elements that comprise squamous differentiation. SMARCA4 (BRG1) stain shows loss of nuclear expression. What is the likely diagnosis?
- Craniopharyngioma
- Ewing sarcoma
- Lymphoepithelioma-like carcinoma
- Olfactory neuroblastoma (ONB)
- Teratocarcinosarcoma (TCS)
Board review style answer #2
E. Teratocarcinosarcoma (TCS). The histologic findings are consistent with teratocarcinosarcoma (TCS).
Answer B is incorrect because Ewing sarcoma is primarily a tumor of young age and it does not show epithelial differentiation.
Answer D is incorrect because ONB usually does not show teratoid differentiation and has retained nuclear expression of BRG1 stain.
Answers A and C are also incorrect because neither of these tumors contain neuroepithelial components.
Comment Here
Reference: Teratocarcinosarcoma (TCS)
Comment Here
Reference: Teratocarcinosarcoma (TCS)
