COM Feb. 2004 Diagnosis

A Rapidly Growing Swelling in the Right Posterior Mandible

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This is an 11-year old Hispanic female who presented with a rapidly growing swelling in the right posterior mandible of one month’s duration with significant displacement of teeth. There was no history of trauma.

1. Eosinophilic Granuloma

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The clinical presentation of this case would be consistent with the monostotic type of eosinophilic granuloma. It presents as a solitary osseous lesion anywhere in the body, including the jaw, and especially in the posterior mandible. It may be associated with dull pain and tenderness or may be asymptomatic. The most common clinical presentation is that of localized severe periodontitis. More than 50% of cases affect children under 10 years of age, with male predilection.

Radiographically, it presents as well-demarcated, but not corticated radiolucency with significant bone loss, resulting in the adjacent teeth seemingly “floating in space.” Although the age of the patient, the location of posterior mandible and the aggressive behavior in this case are suggestive of eosinophilic granuloma, it is not consistent with eosinophilic granuloma’s radiographic features, nor is the histology supportive of this condition.8

2. Burkitt’s Lymphoma

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Burkitt’s Lymphoma, also known as African Jaw Lymphoma, was first described in children of Kampala, Uganda. This lesion is also described outside Africa ,including in the U.S.A. The African type is a very rapidly growing and destructive lesion that occurs as a jaw neoplasm in up to 70% of cases. Its location is usually in the maxilla, but sometimes all four quadrants are involved. The average age of patients with this condition is 7 years. These patients have elevated titer to Epstein Barr Virus (EBV). The non-endemic, non-African type also occurs in children, typically around 10-12 years of age, with male predominance. This type generally involves lymph nodes, lymphoid tissue, and/or visceral organs, especially the abdomen. Jaw involvement is reported but uncommon. These patients occasionally demonstrate EBV antigen titers. Although the aggressive clinical presentation and age of the patient are suggestive of Burkitt’s lymphoma, the histology is not supportive of this condition.9

3. Sarcoma (e.g. Fibrosarcoma, Rhabdomyosarcoma)

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Fibrosarcoma

Fibrosarcoma is rare malignant neoplasm of fibrous connective tissue origin; only 10% of cases occur in the head and neck area. It generally occurs in patients between 20 and 40 years of age, but can occur in infants. It is slightly more common in males.  It can occur in the buccal mucosa, maxillary sinus, palate, lips, or the periosteum of the mandible and maxilla. Sarcomas in general present as fleshly, polypoid, rapidly growing, ulcerative swellings that cause facial asymmetry. They can destroy bone. The clinical presentation and age of the patient in this case are consistent with fibrosarcoma; however, the histology is not supportive of it. Fibrosarcoma tends to present with pleomorphism and high mitotic activity (10).

Rhabdomyosarcoma

Rhabdomyosarcoma is the most common sarcoma in children. It is a malignant neoplasm of skeletal muscle origin. Three types are described: embryonal, alveolar and pleomorphic. The embryonal and alveolar types are most common in children, while the pleomorphic is most common in adults. All types of rhabdomyosarcoma present as exophytic, polypoid, ulcerated, and rapidly growing lesions. This condition may occur at birth, in children, in teenagers or in young adults; it is rare after the age of 45. The head and neck area is a common location for occurrence; such instances constitute 40% of all cases. The orbit is the most common location, followed by the nasal cavity, the oropharynx and the oral cavity. Within the oral cavity, the palate is the most common location. The clinical presentation of this case is suggestive of rhabdomyosarcoma, but the histology is not supportive of it (11).

4. Aggressive fibromatosis

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Aggressive fibromatosis represents a group of fibrous neoplasms with various clinical behaviors and histologic presentations. Aggressive fibromatosis is known by many names, including juvenile aggressive fibromatosis, infantile desmoid fibromatosis 1, and nonmetastasizing fibrosarcoma.2 The last nomenclature best describes the behavior of this lesion; it is a benign, but locally infiltrative and aggressive neoplasm with a potential for multiple local recurrences, but no potential for metastasis. Aggressive fibromatosis can sporadic or familial such as those associated with Gardner’s syndrome. The latter tends to occur more in the abdominal area, and rarely in the head and neck area.1,3 Some investigators consider aggressive fibromatosis in children to be a separate entity than that of adults fibromatosis.1, 5

Head-and-neck aggressive fibromatosis usually occurs in children under 20 years of age.1 It is more prevalent in adult females by a ratio of 2:1 and in children more in males by 2:1.5, 7 It typically presents as a firm, painless, rapidly growing asymptomatic mass. Occasionally, it is slow-growing, but it is destructive in either case. It can destroy bone, infiltrate adjacent structures, displace teeth, and induce periosteal reaction, rendering it clinically and radiographically difficult to differentiate from a sarcoma. It presents in multiple locations within the oral cavity, including the gingiva, lips and other oral soft tissue areas.

Researchers have proposed several theories regarding the etiology of aggressive fibromatosis, which is currently unknown. Hormonal, viral, chromosomal, and, occasionally, trauma-induced etiologies have all been described. Trauma-induced etiology is often described in the area of caesarian-section scars. 4 There is a legitimate body of evidence to suggest that estrogen promotes the growth of fibromatosis, particularly in pregnant females.4 Association with the FAP (Gardner’s Syndrome) gene is also well documented.5

The clinical behavior of aggressive fibromatosis is unpredictable and ranges from frequently recurring to spontaneously regressing; for that reason, a variety of treatment modalities have been employed. Surgery, which is the treatment of choice, ranges from complete removal with clean margins to debulking of the lesion to avoid loss of vital structures. The latter method is often necessary for oral cavity lesions. In the present case, care was taken during surgery to avoid sacrificing the lingual nerve; therefore, the surgeons opted for the more conservative approach of debulking of the primary lesion and very close watch of the surgical area. Several non-surgical alternative treatments have also emerged, such as radiotherapy, chemotherapy, hormonal and biological manipulation, and non-steroidal anti-inflammatory agents. Surgery combined with radiotherapy or chemotherapy has been used in recurring and persistent lesions. Radiotherapy is a secondary treatment method to surgery, and is sometimes used alone 6; however, concern over its possible adverse long-term effects, especially in children, makes it a less desirable mode of therapy. Chemotherapy, with single or multiple agents, and neoadjuvant or maintenance therapy have also been used.6 In children, Chemotherapy is associated with long-term adverse effects and occasional serious complications and even death.6Some cases have been successfully treated with alternative treatments such as estrogen antagonists and non-steroidal anti-inflammatory drugs.5

Prognosis and recurrences are difficult to predict. There is a range of 20%-70% recurrence rate for aggressive fibromatosis in children, mostly recurring within the first five years. sup>7Some studies suggest that positive margins may be the only predictor for recurrence, if any.6 Other adverse prognostic factors may include age of less than 18 years, recurrent disease, and surgical treatment alone.5, 6, 7

Treatment

Treatment included the removal of teeth numbers 30 and 31 with complete excision of the mass as clinically identified. The histopathology revealed a positive posterior margin. The patient’s post-operative regimen included wound care and observation only, and post-operative healing was unremarkable. A small elevation of the posterior wound margin became apparent with wound healing and maturation; this measured approximately 4mm in diameter and was raised approximately 3mm with a firm texture, mild surrounding induration, and overlying mucosa that was normal in appearance. This area was subsequently excised, and no tumor was identified. A tumor board review resulted in recommendations to monitor the area, including frequent clinical exams and a follow-up MRI evaluation, for evidence of recurrence. A more aggressive surgical treatment plan would have been recommended had the lesion recurred; such a recurrence would have been due to residual disease, as the original margins were not histologically clear. However, as it is, the patient has no lingual nerve neurosensory deficit, an intact mandible, and no recurrence of the primary lesion to date.

References

  1. Coffin CM, Dehner LP. Pediatric Soft Tissue Tumors. 1997; 133-178.
  2. Donahue WB, Malexos D, Pham H. Aggressive fibromatosis of the maxilla. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1990; 69:420-426.
  3. Jones IT, Jagelman DJ, et al. Desmoid tumors in familial polyposis coli. Ann Surg. 1986; 170:109-121.
  4. Hayry P, Reitamo JJ, et al. The desmoid tumor II. Analysis of factors possibly contributing to the etiology and growth behavior. Am J Clin Pathol.1982; 77:674-680.
  5. Fletcher CDM. Diagnostic Histopathology of Tumors, Volume 2. 2000; 1498-1500.
  6. Chalmers AJ, Gillham CM et al. Nuchal aggressive fibromatosis in childhood: two instructive case reports. Clin Oncol. 2001; 13:378-383.
  7. Roychoudhury A, Parkash H et al. Infantile desmoid fibromatosis of the sunmandibular region. J Oral Maxillofac Surg.2002; 1198-1202.
  8. Bonet J, Manuel MJ et al. Eosinophilic granuloma of the jaws: a report of three cases. Med. Oral. 2001; 6: 218-224
  9. Cakmak SS, Soker M et al. Non-African Burkitt’s lymphoma manifesting at the jaw and as a right orbital mass in a child. J Pediatr Ophthalmol Strabismus. 2003; 40: 306-308.
  10. Lo Muzio L, Mignogna MD et al. A rare case of fibrosarcoma of the jaws in a 4-year-old male. Oral Oncol. 1998; 34: 383-386
  11. Chigurupati, R, Aflatooni, A et al. Rhabdomyosarcoma of the head and neck in children, review of literature and addition of four cases. J Oral Oncology. 2002; 38: 508-515.