Maxillofacial challenge: Rare presentation of central giant cell tumor involving both maxilla and mandible

Abstract

Introduction and importance

Central giant cell tumor (CGCT) of bone is an uncommon yet locally aggressive neoplasm originating from undifferentiated mesenchymal cells in bone marrow. This case report explores a rare presentation in the maxilla extending to the mandible, emphasizing the complexity of CGCT management and the need for a multidisciplinary approach.

Case presentation

A 35-year-old female presented with a progressively enlarging non-tender, firm swelling on the left maxilla and a similar mandibular swelling. Paraesthesia of the left lower lip and chin accompanied the mandibular swelling. CT scans and 3D reconstructions revealed expansive osteolytic defects affecting the maxilla and mandible. Biochemical tests supported a central giant cell tumor diagnosis. Histopathology confirmed spindle cell proliferation and multinucleated giant cells in both lesions. Surgical intervention involved excision and reconstruction. A five-month follow-up showed no recurrence, affirming the treatment's success.

Clinical discussion

Central giant cell tumors (CGCTs) of bone are primarily benign, arising from undifferentiated mesenchymal cells. While mostly benign, they carry a rare potential for malignancy. Diagnosis involves imaging (CT, MRI, bone scintigraphy) and confirmation through biopsy. Surgical resection is the standard treatment, with radiotherapy considered in challenging cases. Recurrence rates vary with the extent of surgical intervention. Alternative treatments like cryotherapy and chemotherapy show varying success.

Conclusion

This case emphasizes the necessity of precise histopathological diagnosis for CGCT management. The intricate nature of maxillary involvement, coupled with mandibular association, mandates a multidisciplinary approach. Surgery, while the primary treatment, should be judiciously determined based on tumor characteristics and recurrence.

Highlights

• •A 35-year-old woman with atypical giant cell granuloma affecting left maxilla and mandible, causing unique symptoms like lip paraesthesia and nasal obstruction.
• •Extensive clinical examination, CT scans, 3D reconstructions, and biopsies led to a definitive diagnosis.
• •A collaborative team conducted surgery, wide-margin excision, bone graft reconstruction, and addressed occlusal changes involving specialists in orthodontics and prosthodontics.
• •A five-month follow-up showed no tumor recurrence or emerging symptoms, highlighting the efficacy of the comprehensive treatment plan.
• •Patient education, psychological support, and a thorough postoperative care plan were prioritized, emphasizing a holistic approach to long-term well-being.

1. Introduction

Central giant cell tumor (CGCT) of bone is a benign but locally aggressive tumor of mesenchymal origin. It mainly targets the meta-epiphyseal region of long bones, especially during the 3rd and 4th decades of life [1]. In contrast, giant cell lesions of the maxilla are seldom seen. While often deemed as reparative granulomas, they can sometimes be true tumors. Their exact origin remains unclear but may arise from undifferentiated tissue or due to osteoclast hyperplasia [2]. These lesions are characterized by fibrous tissue interspersed with areas of bleeding, multi-nucleated giant cells, and occasionally, woven bone structures [3]. The medical community remains divided on treatment strategies, prognosis predictions based on tissue traits, and the fundamental nature of these growths - whether they are merely reactive or genuinely neoplastic [4]. Surgery is considered the primary approach in treatment [3]. Prognosis depends on tissue traits, and the fundamental nature of these growths, that is, whether they are merely reactive or genuinely neoplastic [4].

This case report presents a 35-year-old female with a progressively enlarging maxillary and mandibular swelling, causing left nasal obstruction and lip paraesthesia. Imaging revealed an expansile lytic mass involving the maxilla and mandible. Hematological assessments indicated normal serum calcium and PTH levels excluding brown tumor of hyperparathyroidism. A biopsy confirmed a central giant cell granuloma. Surgical intervention involved enucleation, aggressive curettage, and peripheral ostectomy.

2. Case presentation

A 35-year-old female patient presented to the Department of Maxillofacial Surgery with a chief complaint of a progressively enlarging swelling on the left maxilla for the past year and a mandibular swelling noted 4 months prior. There was swelling on the upper lip. The patient reported paraesthesia of the left lower lip and chin, correlating temporally with the appearance of mandibular swelling. On physical examination, the maxillary swelling was observed to be non-tender with a firm to hard palpable consistency. It measured approximately 7 × 6 cm, with boundaries extending superiorly from the infraorbital margin to the left commissure of the lip inferiorly. Medially, it led to the obliteration of the left nasolabial fold, though there were no reported or observed episodes of epistaxis. The patient also reported the presence of left nasal obstruction. Laterally, the boundary of swelling was approximately 4 cm anterior to the tragus. The skin over the swelling was intact, non-pinchable, without pigmentation, and exhibited a negative slip sign. Intraorally, the lesion encompassed the entire left buccal vestibule, with notable mobility in the affected dental structures.

The mandibular swelling, localized to the left body, measured 4 × 3 cm. It mimicked the maxillary swelling in consistency, being firm to hard, and was non-tender upon palpation. Teeth associated with the mandibular lesion were also mobile (Fig. 1).

Fig. 1.

Swelling on the left maxilla (7 × 6) cm and left mandible (4 × 3) cm.

Pertinent negatives include the absence of a familial predisposition to similar lesions, no evidence of facial nerve involvement, and no detectable cervical lymphadenopathy. A computed tomography (CT) scan of the face was conducted, which revealed an expansile lytic mass, measuring 39.0 × 37.0 × 37.0 mm, originating from the anterior aspect of the left maxilla. This lesion exhibited a prominent exophytic component, projecting into the left cheek and subsuming the left portion of the upper lip, leading to constricting the left posterior nasal cavity (Fig. 2) Another expansile lytic mass of the mandible was found measuring approximately the size of 37.0 × 35.0 × 35.0 mm originating from the left side of the dental arch of the mandible (Fig. 3).

Fig. 2.

CT-Scan of the face showing Expansile lytic mass, measuring 39.0 × 37.0 × 37.0 mm, originating from the anterior aspect of the left maxilla.

Fig. 3.

Expansile lytic mass of the mandible measuring approximately the size of 37.0 × 35.0 × 35.0 mm originating from the left side of the dental arch of the mandible.

Subsequent 3D reconstruction of the facial CT scan further delineated the osteolytic defect in the left maxilla, extending to the lateral wall and floor of the nasal cavity. Upper Dental arch was also involved. Left side of the dental arch of mandible was also involved (Fig. 4).

Fig. 4.

3D CT-scan reconstruction reveals an osteolytic defect in the left maxilla extending to the nasal cavity and involving the left upper dental arch, alongside a corresponding defect in the left mandibular dental arch.

Orthopantomography and occlusal radiography corroborated the presence of a vast osteolytic region spanning the anterior left maxilla and left mandibular dental arch, with no discernible root resorption (Fig. 5).

Fig. 5.

Orthopantomography radiography reveals the presence of multiple poorly defined radiolucent areas in the left maxilla, affecting the left upper premolars and molars, as well as the lower left dental structures without root resorption.

The differential diagnosis involved brown tumor of hyperparathyroidism, osteoblastoma, osteosarcoma and giant cell tumor. Biochemical investigations showed serum calcium and PTH levels within the normal range, excluding the possibility of brown tumor of hyperparathyroidism. To establish a definitive diagnosis, an incisional biopsy of the maxillary and mandibular lesion was undertaken and microscopic examination unveiled a cellular tumor characterized by spindle cell proliferation interspersed with numerous multinucleated giant cells. At the lesion's periphery, bony trabeculae were evident, bordered by osteoblasts. Portions of the tissue sample were also demarcated by stratified squamous epithelium. The overall histopathological features were suggestive of a central giant cell granuloma (Fig. 6).

Fig. 6.

Histopathology of lesions suggestive of central giant cell granuloma of bone.

Upon confirming the diagnosis of a giant cell granuloma affecting both the maxilla and mandible, a multidisciplinary team was assembled. Following a routine diagnostic evaluation, the patient underwent surgical intervention under general anesthesia. The comprehensive treatment plan involved extensive surgical excision of the maxillary and mandibular lesions with wide margins. Reconstruction was performed using bone grafts to restore structural integrity. Orthodontic and prosthodontic specialists addressed occlusal changes, while a meticulous postoperative care plan, including pain management and regular radiographic surveillance, aimed for optimal recovery. Throughout the process, patient education and psychological support were prioritized, ensuring a holistic approach to long-term well-being.

After a thorough follow-up spanning five months, the patient exhibited no signs of tumor recurrence, and there were no emerging symptoms related to the previously treated giant cell granuloma. This positive outcome underscores the effectiveness of the comprehensive treatment plan, highlighting the success in achieving long-term resolution and the sustained well-being of the patient.

3. Clinical discussion

Central giant cell tumors (CGCTs) of bone are categorized as benign mesenchymal neoplasms originating from undifferentiated mesenchymal cells within the bone marrow [5]. Most CGCTs are benign, but there is a rare potential for malignancy. Malignant CGCTs can either be primary, occurring near a benign CGCT during initial diagnosis, or secondary, developing at the site of a previously treated CGCT [6,7]. These tumors are characterized by the presence of multinucleated giant cells, often resembling osteoclasts, and are distributed throughout the stroma of mononuclear cells. These neoplastic cells are referred to as central giant cell tumor stomal cells (CGCTSC) and originate from osteoblasts, expressing markers specific to osteoblasts like osteocalcin and alkaline phosphatase [8,9].

CGCTs represent 5 % to 9 % of primary bone neoplasms, with a higher prevalence in the head and neck, especially among females [10]. The typical age group affected is between the second and fourth decades of life. Rare cases involve CGCTs in the jaw bone, contributing to the diversity of clinical and biological behaviors in the maxillofacial area [11]. Imaging plays a pivotal role in the diagnosis of CGCTs. The diagnosis of CGCTs of bone relies on a combination of diagnostic methods, including imaging techniques such as CT, MRI, and bone scintigraphy for initial assessment, followed by a definitive confirmation through histopathological examination via biopsy [[12], [13], [14], [15]].

CT scans are employed to assess the extent of the tumor. CT imaging provides detailed information about the lesion, including its soft tissue mass, cortical perforation, and the degree of bone damage. It also helps in determining the tumor's extension towards key surrounding anatomical structures [16]. MRI offers superior contrast resolution for evaluating soft tissue tumors associated with CGCTs. The combination of CT and MRI imaging aids in comprehensive assessment [17]. Bone scintigraphy is another diagnostic technique utilized in CGCT diagnosis. It reveals enhanced radioactive absorption in most CGCTs, aiding in their detection and localization [18]. Additionally, occlusal radiography can be employed to confirm the presence of osteolytic zones within bone affected by CGCTs [19]. This imaging technique provides information about the extent of bone involvement and whether there is evidence of root resorption [20,21]. Despite the valuable insights obtained through imaging, a definitive diagnosis of CGCT requires histopathological examination. Biopsy is the gold standard for confirmation. In the case of CGCTs, histopathological examination typically reveals multinucleated giant cells within a vascular stroma of epithelioid or spindle-shaped mononuclear cells, often accompanied by peripheral osteoid development. This distinct histopathological pattern is crucial in confirming the diagnosis of CGCT [8].

Treatment of CGCTs of bone primarily involves surgical intervention as the universal standard of care. Surgical resection is the preferred approach for managing CGCTs, particularly when they are benign and located near a joint in young individuals [22]. The goal of surgery is to remove the tumor while preserving as much healthy tissue and bone as possible, minimizing functional impairment. In cases where complete excision or curettage is impractical due to medical or functional reasons, radiotherapy may be recommended as an alternative treatment strategy. Radiotherapy is considered when the tumor's location or size makes surgical removal challenging. However, radiotherapy is typically used sparingly and with caution, as it carries the risk of complications and the potential for sarcoma formation [23].

Surgical management, often in the form of curettage, may result in a recurrence risk of up to 70 % when dealing with CGCTs [24,25]. In contrast, broad resection, which involves the removal of more extensive tissue, is associated with a significantly lower recurrence rate, typically around 7 %. It is important to note that broad resection is generally reserved for cases with repeated recurrences or when the tumor has spread to surrounding tissues, as it can be more aggressive and involve a larger area of healthy tissue removal [26,27]. Other treatment approaches, such as cryotherapy, chemotherapy, intralesional steroids, calcitonin, interferon α, and curettage with adjuvant drugs, have been attempted but with varying success rates.

4. Conclusion

CGCTs of bone are primarily benign but can exhibit malignancy in rare cases. They originate from undifferentiated mesenchymal cells within the bone marrow. Typically affecting individuals in their second to fourth decades, these tumors are more common in females. The case report illustrates the diverse clinical nature of CGCT. Diagnostic tools like CT scans, bone scintigraphy, and biopsies play crucial roles. Treatment involves surgical resection, with recurrence rates varying by the extent of resection. Other therapies, including radiation and chemotherapy, show mixed efficacy.

5. Informed consent

Written informed consent was obtained from the patient for publication and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.

6. Methods

The work has been reported in line with the SCARE criteria [28].

Ethical approval

As it's a case report, it is exempted from ethical approval by the Institutional Board of Review, King Edward Medical University, Lahore.

Funding

None.

Author contribution

Asma Iqbal: Study conception & writing of article

Syed Faqeer Hussain Bokhari: Data acquisition

Muhammad Tausif: Writing of article

Guarantor

Syed Faqeer Hussain Bokhari.

Research registration number

N/A

Conflict of interest statement

None to disclose.