Dissenting an Uncommon Diagnosis at Unusual Origin: A Case Report of Teratocarcinosarcoma of Sinonasal Cavity – A Rare Malignancy Open Access

Teratocarcinosarcoma of sinonasal cavity is an aggressive neoplasm that is comprised two histological components like teratoma and carcinosarcoma [1]. Most of the patients present with nasal obstruction, recurrent epistaxis, hyposmia, and diplopia due to involvement of bony orbit. According to the literature, teratocarcinosarcoma has more preponderance toward males compared to females (7:1) with only 150 cases over the globe, and due to its aggressive nature, the prognosis is generally poor, as previously reported, 2-year survival is just 55% with 38% of recurrence potential [2, 3]. Early diagnosis and management is considered a key factor in better prognosis and survival, with surgical resection followed by radiochemotherapy is the main stay of therapeutic approach [3]. Herein, we are reporting a rare case of sinonasal teratocarcinosarcoma in 55-year-old male with perspective of therapeutic and diagnostic advancements.

A 55-year-old male presented to the otorhinolaryngology outpatient department at Benazir Bhutto Hospital, Rawalpindi, Pakistan, with a 6-month history of bilateral nasal discharge and recurrent epistaxis. He reported progressive nasal swelling over the past 3 months and left-sided epiphora, with symptoms more pronounced on the left than the right. Despite these issues, his vision remained intact.

On clinical examination, a prominent swelling of the nasal bridge was observed, more noticeable on the left side as shown in Figure 1. Anterior rhinoscopy revealed a grade III reddish, polypoidal mass that was both sensitive and prone to bleeding upon touch. The nasal bridge was widened, with an increased intercanthal distance of approximately 39 millimeters. Nasal patency was reduced on the left side. Palpable cervical lymph nodes were detected at levels I, II, and III on the left side. Baseline investigations, including complete blood count, renal and liver function tests (RFTs and LFTs), and clotting profiles, were within normal limits.

A computed tomography (CT) scan of the paranasal sinuses demonstrated a well-defined, homogeneous, polypoidal, and expansile mass lesion within the left nasal cavity as well as expanding into maxillary sinus. The mass caused a focal bulge in the overlying skin and extended anteriorly up to the anterior nares, with evidence of erosions in the nasal bone. Posteriorly, it involved the left ethmoidal air cells, resulting in the thinning and resorption of the intervening bony trabecule. The lesion also caused thinning of the left lamina papyracea, leading to a focal bulge on the medial orbital wall. Additionally, thinning and attenuation of the bony nasal septum led to deviation toward the right. Posterolateral extension caused obliteration of the left osteomeatal complex, with muco-inflammatory changes and complete opacification secondary to mass extension noted in the left maxillary sinus as shown in Figure 2. Complete opacification of the left frontal sinus (36 HU) was observed, likely due to secondary sinusitis or possible mass extension. The bony skull remained intact, with no discrete fractures identified.

Histopathological examination of the initial biopsy sample was suggestive of sinonasal sarcoma; however, the repeat biopsy on suspicion of highly aggressive malignancy revealed fragments of a complex neoplastic lesion comprising epithelial, mesenchymal, and neuroectodermal components, indicative of an aggressive tumor. The epithelial component consisted of nests and islands of immature, cytologically bland clear squamous cells. The mesenchymal areas displayed spindled cells with myxoid changes as shown in Figure 3a. In addition, primitive neuroepithelial elements formed small blue cell nests characterized by hyperchromatic nuclei, inconspicuous nucleoli, and scant eosinophilic cytoplasm as shown in Figure 3b. These findings were suggestive of a high-grade malignant lesion. Immunohistochemistry analysis further supported the diagnosis. The tumor exhibited p63 positivity in squamous epithelial cells, while synaptophysin and chromogranin were positive in small neuroendocrine-like cells. Additional focal positivity was observed for p16 (CDKN2A). Other markers, including CD56, neuron-specific enolase, CD99, GFAP, and INSM-1, were also positive, collectively confirming the diagnosis of teratocarcinosarcoma.

Following the histopathological diagnosis, surgical resection of the mass was performed through a lateral rhinotomy and medial maxillectomy approach. The patient was subsequently referred for adjuvant radiotherapy and chemotherapy as part of a trimodal treatment approach. This comprehensive approach led to significant regression of both the primary tumor and involved lymph nodes, underscoring the importance of timely diagnosis and multidisciplinary management in improving survival outcomes for rare and aggressive malignancies like teratocarcinosarcoma.

The term teratocarcinosarcoma was first used by Heffner et al. [4] to describe this tumor due to its histopathology. SNTC has components from all three germ layers; a mass of squamous epithelium from ectoderm, smooth muscle fibers that exhibit mesoderm tumor-like hyperplasia along with cartilage and bone tissue from the mesoderm. The endodermal component of TCS is a mass with mucous cell-rich, ciliated columnar epithelium arranged as duct-like structures (reminiscent of digestive and respiratory tract epithelia) [5]. Clinically, the most common presenting symptoms are nasal obstruction (73.8%), recurrent epistaxis (61.7%), headache (24.3%), and eye symptoms (10.3%) [6]. Headache and eye symptoms such as vison loss, exophthalmos, proptosis along with dysphagia, odynophagia, epiphora, anosmia, facial swelling, and altered mental status are features of surrounding tissue involvement. Hyponatremia due to the syndrome of inappropriate antidiuretic hormone secretion has also been reported. The dominant features in our patient were bilateral nasal discharge and epiphora.

SNTCS usually lacks specific CT and MRI features; the images are similar to those of common malignant sinus tumors. In our case, CT revealed a spreading neoplasm that was not very distinct from other sinonasal tumors. According to Fu et al. [7], local tissue biopsy alone is inadequate due to the histological diversity of SNTCSs [7]; however, our case was successfully diagnosed on local tissue biopsy and tumor markers. Tumor markers included positive in our study were p63, synaptophysin, and p16. Tumor markers usually positive in studies are the epithelial markers such as cytokeratin and EMA, the undifferentiated smooth muscle marker vimentin, undifferentiated or primary tumor component markers such as neuron-specific enolase and CD99. CgA and synaptophysin are also usually weakly positive. Owing to the rarity, nonspecific clinical and CT finding, and varying histopathology of SNTC, it is often misdiagnosed as small cell carcinomas, olfactory neuroblastomas, immature teratomas, carcinosarcomas, adenocarcinomas, and as malignant transformations of teratomas [8].

Treatment of SNTC includes surgery, radiation, and chemotherapy. Different combinations of these treatment modalities are used to achieve maximum therapeutic benefit. The most common treatment approaches are surgical resection (87.2%), radiation therapy (59.3%), and chemotherapy (18.6%) [6]. Surgery with negative margins remains the preferred treatment. However, due to the complex anatomy of the nasal sinuses, achieving complete tumor removal is not always possible. For this reason, a combination of neoadjuvant chemoradiotherapy followed by surgery is recommended. This approach has been associated with an approximately 88% survival rate over an average follow-up of 32 months, compared to a 56.5% survival rate at 45 months in patients who underwent only surgery and radiation [3]. In our case, this trimodal approach was used which included surgical resection of the tumor followed by adjuvant radio and chemotherapies. The most frequently reported surgical procedure in the reviewed cases was craniofacial resection (18.6%), followed by a maxillectomy approach (12.8%) and rhinotomy (10.5%). Other surgical techniques used included ethmoidectomy, craniotomy, orbital exenteration, transbasal osteotomy, bilateral frontal sinusectomy, transoral resection, mandibulectomy, cribriform plate excision, and cryosurgical treatment [3]. We used a lateral rhinotomy and medial maxillectomy approach. Local recurrence rates range from 25 to 55%; therefore, regular follow-up nasal endoscopy or a positron-emission tomography (PET scan) should be used to observe for early recurrence [6]. This case underscores the importance of timely diagnosis and a multidisciplinary treatment approach in managing aggressive sinonasal malignancies like teratocarcinosarcoma.

Teratocarcinosarcoma of the nasal cavity and paranasal sinuses is an exceptionally rare and aggressive malignancy that poses significant diagnostic and therapeutic challenges. This case highlights the importance of a comprehensive and timely approach involving clinical assessment, advanced imaging, and histopathological confirmation for accurate diagnosis. The successful management of this patient through surgical resection, combined with radiotherapy and chemotherapy, emphasizes the role of a multidisciplinary treatment strategy in achieving favorable outcomes. Early detection and intervention remain critical for improving prognosis in such aggressive sinonasal tumors.

The CARE Checklist has been completed by the authors for this case report, attached as online supplementary material (for all online suppl. material, see https://doi.org/10.1159/000546502).

This study was performed in accordance with the Declaration of Helsinki. Ethics approval for this human study was waived by Institutional Research Forum of Rawalpindi Medical University. All adult participants provided written informed consent to participate in this study. Written informed consent was obtained from the individual(s) for publication of the details of their medical case and any accompanying images.

The authors have no conflicts of interest to declare.

No funding was taken and utilized at any step of the project.

Shahzaib Maqbool, Muhammad Ibrahim, Abdullah Munir Ahmed, Hassaan Tahir, and Ammna Kouser: conceptualization, data curation, writing – original draft preparation, and writing – reviewing and editing. Muhammad Amin Abbas, Abdur Rehman, Imran Khan, and Javed Iqbal: writing – reviewing and editing. All authors have read, reviewed, and approved the final version of the manuscript prior to submission, and each author accepts full responsibility for their respective contributions.

The data that support the findings of this study are not publicly available due to patient’s confidentiality but are available from the corresponding author upon reasonable request.