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Int J Surg Case Rep
Int J Surg Case Rep
International Journal of Surgery Case Reports
2210-2612
Elsevier

S2210-2612(24)01037-X
10.1016/j.ijscr.2024.110256
110256
Case Report
Uncommon encounter: Nasopharyngeal desmoid tumor: A case report
Khozamah Zeinah zkhozamah@gmail.com
a⁎
Mdawr Elias a
Rahme Mohamad Nedal a
Halakey Wasem a
Hamchou Mhd Hani b
Torbey André c
a Department of ENT, Ibn Al-Nafees Hospital, Damascus, Syria
b General Assembly of Damascus Hospital, Radiology Department, Damascus, Syria
c Faculty of Medicine, Syrian Private University, Damascus, Syria
⁎ Corresponding author. zkhozamah@gmail.com
12 9 2024
10 2024
12 9 2024
123 11025626 7 2024
1 9 2024
5 9 2024
© 2024 The Authors
2024
https://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Background

Desmoid tumors, also known as aggressive fibromatosis, are rare benign tumors originating from the musculoaponeurotic stroma. While desmoid tumors in the head and neck region are documented, those located in the nasopharynx are exceptionally rare.

Case presentation

A 26-year-old male presented with a three-year history of left nasal obstruction. A CT scan revealed a mass measuring 5.9 × 4.6 × 3.2 cm occupying the left nasal cavity and nasopharynx, with invasion into the maxillary sinus wall. A biopsy confirmed the presence of a nasopharyngeal desmoid tumor. The patient subsequently underwent endoscopic resection followed by radiotherapy.

Discussion

Nasopharyngeal desmoid tumors pose a significant diagnostic challenge due to their rarity. The use of MRI and CT scans is crucial for accurate diagnosis, despite their histologically benign nature. It is important to note that these tumors can mimic malignant lesions, emphasizing the necessity for a thorough and meticulous evaluation during the diagnostic process.

Conclusion

This case underscores the diagnostic and therapeutic complexities associated with nasopharyngeal desmoid tumors. Increased reporting and documentation of such cases are essential to enhance the understanding and management of this rare condition.

Highlights

• Rare Clinical Condition: Presents a nasopharyngeal desmoid tumor, contributing significantly to the limited existing literature on this highly uncommon condition.

• Diagnostic Complexity: Highlights the challenges in distinguishing these benign tumors from malignant lesions, necessitating comprehensive use of histological examination for accurate identification.

• Effective Treatment Regimen: Demonstrates the successful use of endoscopic surgical resection followed by radiotherapy in managing this aggressive tumor.

• Positive Postoperative Outcome: Reports a favorable outcome with no recurrence observed at ten months post-treatment, underscoring the efficacy of the treatment approach.

• Significance for Medical Practice: Stresses the importance of increased reporting on such rare cases to enhance understanding and improve diagnostic and therapeutic strategies for nasopharyngeal desmoid tumors.

Keywords

Desmoid tumors
Aggressive fibromatosis
Nasopharyngeal tumors
Head and neck tumors
Maxillary sinus invasion
Case report
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pmc1 Introduction

Desmoid tumors, also known as aggressive fibromatosis, are benign yet notable for their aggressive local recurrence and invasion of adjacent tissues and organs [[1], [2], [3]]. These rare entities account for merely 0.03 % of all tumors and 3 % of all soft tissue tumors [1,4,5]. Typically manifesting around the age of 30, desmoid tumors in the head and neck tend to develop at a younger age compared to those in other locations [2,6]. These tumors represent 7–15 % of all desmoid tumors, with a noted female predilection in most series, although some studies report no definitive sex prevalence [2,5,[7], [8], [9], [10]]. According to Kruse et al., the majority of these tumors in the head and neck are located in the mandible, followed by the neck, and only a minority, about 8 %, are found in the pharynx [5]. The etiology of desmoid tumors is still not well understood, but an association with local trauma, hormonal activity, and genetic factors has been identified [1,[4], [5], [6],11]. Desmoid tumors in the head and neck are generally more aggressive than those in other locations and pose significant therapeutic challenges due to their infiltrative behavior and proximity to vital anatomical structures [3,12]. They are prone to local recurrence and, although rare, malignant transformation is possible; however, mortality often results from the local extension into critical structures rather than malignancy [1]. For diagnostic purposes, magnetic resonance imaging (MRI) is preferred due to its detailed soft tissue contrast, whereas computed tomography (CT) scans are also utilized to visualize these lesions more clearly. On CT, these tumors typically appear hyperattenuating (44–49 Hounsfield units), with significant enhancement post-contrast application (63–66 Hounsfield units) [1,2,9]. Despite the well-documented nature of head and neck desmoid tumors, their occurrence in the nasopharynx remains exceedingly rare [3]. This report discusses a unique case of nasopharyngeal desmoid fibromatosis in a 26-year-old male, highlighting the complexities and rarity of such tumors.

2 Methods

Informed verbal and written consent was obtained from the patient. Ethical approval was not required for this case report, as case reports do not require ethical approval from the Institutional Review Board at Ibn Al-Nafees Hospital. This report adheres to the SCARE (Surgical CAse REport) criteria, ensuring standardized and thorough documentation of surgical cases [13].

3 Case presentation

A 26-year-old male presented with a three-year history of left nasal obstruction, without accompanying symptoms of vision loss, epistaxis, pain, or neck swelling. The patient had previously undergone endoscopic sinus surgery two years prior for the resection of a nasal mass, although histological results from that procedure are unavailable. Despite the intervention, there was no improvement in nasal breathing. Nasal examination disclosed a white, firm mass completely occluding the left nasal vestibule, concomitantly, a right septal deviation was noted. The exact origin of the mass could not be definitively identified at this stage. Although Magnetic Resonance Imaging (MRI) was not performed, a Computed Tomography (CT) scan demonstrated a mass measuring 5.9 × 4.6 × 3.2 cm occupying the entire left nasal cavity and nasopharynx. This mass was compressing the left inferior and middle concha and displacing the nasal septum, with evidence of invasion into the maxillary sinus wall (Fig. 1). A preoperative biopsy showed focal, moderately cellular proliferation of mildly atypical fibroblast-like spindle cells within the soft tissue of the respiratory mucosa (Fig. 2), suggesting a desmoid tumor. Subsequently, endoscopic resection of the nasal mass was performed under general anesthesia to establish a definitive diagnosis and enable therapeutic intervention. The patient was positioned supine with the head slightly elevated, and a local anesthetic with vasoconstrictor was administered to reduce intraoperative bleeding. A transnasal approach was utilized, during which a 0-degree rigid endoscope was inserted, allowing direct visualization of the mass.Fig. 1 (A, B and C): CT of the paranasal sinuses without contrast in coronary (A), transverse (B) and sagittal (C) sections showing a mass in the left nasal cavity measuring 5.9 × 4.6 × 3.2 cm displacing the nasal septum, and invading the wall of the left maxillary sinus.

Fig. 1

Fig. 2 Histological examination of the tumor showed focal moderately cellular, mildly atypical fibroblastic-like spindle cells proliferation, involving underlying soft tissue of the respiratory mucosa. There were no significant mitotic activity nor necrosis.

Fig. 2

Following careful inspection of the mass and surrounding structures, a combination of cold instruments, including microdebriders and endoscopic forceps, was used for the precise partial resection of the mass. Intraoperative navigation was employed to ensure safe dissection, particularly near critical anatomical landmarks.

After partial resection, the residual mass was identified to originate from the nasopharynx (Fig. 3). To achieve complete excision, the surgical team expanded the approach to include the choanal opening, ensuring adequate access to the nasopharyngeal region. The mass was then fully excised in a piecemeal fashion, with special attention paid to the preservation of surrounding mucosa and avoidance of injury to nearby structures.Fig. 3 Surgical view of the left nasal cavity after partial removal of the desmoid Tumor at a specific stage during the surgical procedure. In Panel B, the remaining portion of the desmoid tumor can be observed protruding from the choana, originating from the nasopharynx. In the subsequent stages of the surgery, the remaining portion of the desmoid tumor was completely excised from the left nasal cavity and nasopharynx.

Fig. 3

Electrocautery was employed throughout the procedure to achieve hemostasis, ensuring minimal blood loss. Hemostatic agents were also applied locally to enhance control of bleeding. Post-excision, the surgical site was thoroughly inspected for any residual tumor tissue, and meticulous hemostasis was confirmed. The nasal cavity was then irrigated with saline, and a nasal pack was inserted to support hemostasis and reduce postoperative bleeding. The patient was then monitored closely in the recovery unit for any immediate postoperative complications.

Macroscopically, the excised tumor presented as multiple firm, white soft tissue fragments, measuring between 2 and 5 cm. Histological examination revealed atypical fibroblastic like spindle cell proliferation involving nasal mucosa, with focal slight hypercellularity, and no significant mitotic activity nor necrosis, suggestive of desmoid tumor/myxofibrosarcoma. In addition, Adenoids and all separately received surgical margins (ethmoid, turbinate, skull basement and nasal floor biopsies) were free of tumor. Immunohistochemical staining was negative for Actin and S100, ruling out myogenic and neurogenic origins, respectively, while the KI67 marker was positive in 5–7 % of the tumor cells, indicative of low mitotic activity. These histologic and immunohistochemical findings supported the diagnosis of a desmoid tumor. Postoperatively, the patient underwent radiotherapy and has remained symptom-free for the past ten months without any adverse outcomes. A follow-up CT scan performed ten months post-surgery showed no evidence of recurrence (Fig. 4).Fig. 4 (A and B): CT of the paranasal sinuses without contrast 10 months after the surgery in Coronal (A) and Axial (B) sections.

Fig. 4

4 Discussion

The age of our patient, 26, aligns with the common age range reported in the literature, reflecting typical demographic characteristics of this condition [2]. Clinically, desmoid tumors typically manifest as firm, painless, enlarging masses that may cause local compressive symptoms, particularly in the head and neck region [6]. The nasopharyngeal location of desmoid tumors, as in the present case, is exceptionally rare, with few cases documented in the literature [3]. This paucity of cases challenges the accumulation of a robust data set for more definitive conclusions and underscores the novelty of our report. Diagnostic imaging is critical in the initial evaluation and follow-up of desmoid tumors, with MRI being the preferred modality due to its superior soft tissue contrast [6]. However, in this instance, MRI was not utilized; instead, a CT scan identified an aggressive mass, prompting consideration of a range of differential diagnoses including various aggressive neoplasms [14,15]. Interestingly, the radiologic measurement of the lesion showed lower Hounsfield units than typically observed for desmoid tumors, which added complexity to the diagnostic process [1]. The histopathological analysis in our case revealed moderately cellular, mildly atypical fibroblastic-like spindle cell proliferation, with immunohistochemical profiles negating myogenic and neurogenic origins and confirming low mitotic activity through KI67 staining [1,5,9]. This diagnostic journey emphasizes the critical role of comprehensive tissue analysis in confirming desmoid tumors, given their clinical and radiologic overlap with more aggressive malignancies. Historically, desmoid tumors in the head and neck have been documented sporadically. Gnepp et al. reported 25 cases over a century, with only one affecting the nasopharynx, and Kruse et al. identified a similarly low incidence [3,5]. These reports highlight the exceptional rarity of nasopharyngeal involvement in desmoid tumors. Treatment primarily involves surgical resection, supplemented by radiotherapy in cases of incomplete resection or recurrence [2,5]. In our case, the patient underwent postoperative radiotherapy and has shown no signs of recurrence after ten months, which is consistent with the lower recurrence rates observed in sinonasal tract and nasopharyngeal desmoid tumors compared to other locations [3]. This case contributes significantly to the limited body of knowledge on nasopharyngeal desmoid tumors and underscores the need for ongoing documentation and study of such rare cases. Future research should aim to explore the molecular and genetic underpinnings of these tumors to better understand their pathophysiology and develop targeted therapies.

5 Conclusion

Despite their benign nature, desmoid tumors in the head and neck regions pose considerable therapeutic challenges due to their infiltrative properties and close proximity to vital anatomical structures. This case report of a nasopharyngeal desmoid tumor in a 26-year-old male significantly enriches the existing medical literature, highlighting the rarity and diagnostic complexity of such tumors. The successful management through surgical resection followed by radiotherapy, with no recurrence over a ten-month follow-up period, underscores the effectiveness of this combined treatment approach. The continued publication of such cases is crucial, as it broadens our understanding of this rare condition, supports more refined statistical analyses, and ultimately leads to improved diagnostic and therapeutic strategies for better patient outcomes.

Consent for publication

The patient has given both verbal and written informed consent for the publication of this case report and any accompanying images.

Ethical approval

Ethical approval was not required for this case report as per Ibn Al-Nafees Hospital guidelines. Written informed consent was obtained from the patient for the publication of this case report, with assurance of maintaining patient anonymity.

Funding

This project did not receive any funding from any agencies in the public, commercial, or non-profit sectors.

Author contribution

Z.K. conceptualized the case report and wrote the initial draft. Z.K., E.M, and M.H.H. conducted the literature review and contributed to the case presentation. M.N.R. and W.I.H. performed the surgical intervention and managed postoperative care. M.H.H. provided radiological expertise and interpretation of imaging. A.T. supervised the entire project and provided critical revisions to the manuscript. All authors read and approved the final version of the case report.

Guarantor

Zeinah Khozamah.

Research registration number

Not a “First in Man” study.

Conflict of interest statement

The authors declare that they have no competing interests.

Data availability

A copy of the written consent is available for review upon reasonable request to the corresponding author.

Acknowledgments

We extend our sincere gratitude to the patient involved in this case report.

During the preparation of this work, the authors utilized ‘ChatGPT 4’ to check and improve the manuscript's language and grammar. Following the use of this tool/service, the authors thoroughly reviewed and edited the content as necessary, and they take full responsibility for the publication's content.
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