Aggressive fibromatosis of the oropharynx: a multidisciplinary approach to a benign disease.
We present the case of a 23-year-old woman with aggressive fibromatosis of the oropharynx that was initially treated elsewhere as a peritonsillar abscess. We discuss the characteristics of this rare tumor and review the literature, stressing the importance of postoperative follow-up for peritonsillar abscesses to avoid missing other important diagnoses, such as the one described here.
Desmoid tumors are a broad group of tumors that originate from musculoaponeurotic structures throughout the body. (1) They include a number of tumors with similar characteristics, such as fibromas, aggressive fibromatosis, rhabdosarcomas, and fibrosarcomas. (2) They are benign but locally aggressive, and therefore they behave malignantly? They are rare in the head and neck region. (3) Treatment usually requires wide resection and reconstruction, but recurrence is common.
Aggressive fibromatosis has virtually no metastatic potential. (4) It originates from muscular aponeuroses, creating a desmos, meaning "band" or "tendon" which refers to the ligament-like appearance of these lesions. According to the WHO classification, aggressive fibromatosis tumors are categorized as superficial or deep, as well as abdominal or extra-abdominal. They are tumors of intermediate grading. Head and neck fibromatosis is a deep and, obviously, extra-abdominal tumor.
These tumors have an equal sex distribution, although some authors suggest a slight female preponderance. (5) Patients are of a diverse age range.' They are rare tumors, with an incidence of 2 to 4 cases per million patients per year, and they affect the head and neck regiom in 12% of cases. (3) Out of those, 85% are in the neck, with the rest in the face or scalp? Common sites include the orbit, the mandible, the scalp, and the palate, (1) but the supraclavicular fossa is the most common site of all. (2,4)
A 23-year-old female student was being treated for a right-sided peritonsillar abscess. She had undergone incision and drainage at a different hospital 4 weeks earlier. On presentation to our team, she had a prominent, firm, painless, smooth swelling on the right soft palate, which lateralized the uvula (figure 1). She had no trismus, but she had voice changes resembling "hot potato voice." She complained of dysphagia and had lost more than 22 pounds in the previous month.
Magnetic resonance imaging (MRI) confirmed the presence of a large soft-tissue mass involving the soft palate; it measured 3.8 x 5 cm in maximum axial diameter (figure 2, A). The superoinferior extent of the mass was 6 cm, extending from the nasopharynx down into the oropharynx and laterally extending to the pharyngeal wall (figure 2, B). The patient had no lymphadenopathy.
Examination under anesthesia revealed the large mass and allowed biopsies to be taken. Histology showed stellate and spindle cells with plump, oval, vesicular nuclei that contained nucleoli. The cells were arranged in haphazard bundles and were associated with occasional normal mitoses. Scattered mast cells were seen, but no necrosis was visible. The spindle cells were strongly positive for vimentin and moderately positive for smooth-muscle actin. They were negative for desmin, factor VIII, cytokeratins (CAM5.2 andAE 1/AE3), S- 100 protein, and CD34. These features suggested a diagnosis of aggressive fibromatosis.
[FIGURE 1 OMITTED]
The mass, measuring 6 x 6 x 4 cm, was excised via a lip and mandible split approach and was removed in toto (figure 3). Reconstruction was performed with a 4 x 6-cm anterolateral thigh flap based on a single intramuscular perforator of the descending branch of the lateral circumflex femoral artery (figure 4). The patient had an unremarkable recovery and returned to eating normally within 10 days, with no speech or swallowing difficulties upon dishcarge. Histology confirmed the previous findings and showed that the tumor contained thick-walled blood vessels and slit-like, thin-walled vessels with a perivascular lymphocytic infiltrate, as well as myofibroblasts and collagen deposits (figure 5).
By the time this article was written, the patient had been under 6 months of follow-up, and no recurrence was detected.
Peritonsillar abscess is a well-known clinical entity in the otolaryngology world that complicates acute tonsillitis. It presents as a smooth oropharyngeal swelling that causes severe odynophagia and displacement of the uvula. Its treatment is usually straightforward, with incision and drainage of the abscess and administration of intravenous antibiotics. The disease seldom has a protracted course, with all symptoms and signs disappearing within a few days of treatment. There are no clear guidelines regarding regular follow-up of patients with peritonsillar abscess.
[FIGURE 2 OMITTED]
Our case report serves to highlight several important learning points. A detailed patient history is essential to the diagnosis of fibromatosis. In our patient, the fibromatosis was superimposed by an oropharyngeal infection, which created a clinical picture resembling a peritonsillar abscess. Anything that deviates from the typical course of a disease--in this case what appeared to be peritonsillar abscess--should alert the physician to the possibility of a different diagnosis and lead to reassessment of the patient. The fact that the mass in our case had been present for more than 2 weeks, and that no purulent material was obtained on incision, suggested that peritonsillar abscess was probably not the correct diagnosis and led us to investigate further, which led to the diagnosis of aggressive fibromatois.
[FIGURE 3 OMITTED]
Standard follow-up for a minimum of 2 years, consisting of a detailed clinical examination and frequent cross-sectional imaging, is important in all cases of suspected peritonsillar abscess in which the clinical course does not exactly match the typically described course of the disease. This is demonstrated in our case report, in that 4 weeks after being discharged after her initial treatment with incision and drainage, our patient's oropharyngeal mass was still present and unchanged in size.
[FIGURE 4 OMITTED]
Aggressive fibromatosis presents as a painless mass, creating vascular and neurologic signs of pressure. (3,4) It has a propensity to infiltrate surrounding muscle, adipose tissue, and fibrous tissue, and it encases blood vessels and nerves without invasion. (6) Macroscopically, these lesions tend to be white to grey in color, rubbery to hard in consistency, and measure from 1 to 15 cm, often with infiltrative margins. (2)
Several theories have been put forth regarding the formation of aggressive fibromatosis tumors. Gene mutations (adenomatous polyposis coli or [beta]-catenin) appear to be a likely explanation (3) in 75% of cases, according to Collins et al. (1) The association of desmoid tumors with familial adenomatous polyposis and Gardner syndrome is well known. (7) The fact that desmoid tumors are clonal in nature (1) has provided evidence that they are not the result of an inflammatory process but are true neoplasms. A history of trauma is frequently reported, but this is less common in the head and neck than in other body regions. (4)
Diagnosis of aggressive fibromatosis tumors is assisted by computed tomography (CT) scans and/ or MRI; core needle or open biopsy offers histologic confirmation. (1,4)
The treatment of choice for these tumors is surgical excision. (2) This can be followed by radiotherapy, hormone therapy (estrogen, antiandrogen with tamoxifen), treatment with nonsteroidal anti-inflammatory drugs, or chemotherapy. (1,2,8) Aggressive fibromatosis should be treated technically as a local malignancy, and a negative margin resection should be the operative goal. (1) This is not always possible because the tumor often encroaches onto vital structures; complete resection should not be preferred over preservation of these important structures, since the recurrence rate of the tumor is notoriously high anyway. (2,4) Radiotherapy should be reserved for inoperable or recurrent cases. (2,5)
Park et al describe excellent outcomes after administering radiation to patients with aggressive fibromatosis in the presence of gross or microscopic residual disease margins. (7) Other authors contradict this, supporting complete surgical excision as the only effective means against recurrence. (9) Donohue et al state that in most cases, radiation is ineffective because of the low doses being used. (10)
[FIGURE 5 OMITTED]
Goepfert et al describe successful treatment of pediatric fibromatosis with a combination of doxorubicin and dacarbazine. (8) West et al report using a combination of doxorubicin and cyclophosphamide with good results in 2 cases of inoperable fibromatosis of the head, with follow-up ranging from 9 to 30 months. (5)
Histologically, fibromatosis is a tumor of low cellularity that, according to the WHO classification, belongs between benign and malignant neoplasms. The tumors are composed of long, poorly defined fascicles of spindle-shaped fibroblasts in a rich collagen matrix. No atypical cells are seen, and mitoses are always few. Lymphocytes and macrophages may exist in the periphery. Although they can encase neurovascular structures, they do so without invading them and, to our knowledge, no distant metastases have been reported in the literature. Bony erosion has been reported in occasional cases. (14) Extension into vital structures can complicate excision and lead to death. (6)
Desmoid tumors such as aggressive fibromatosis are notorious for recurring despite successful resection, with most authors reporting a recurrence rate ranging between 25 and 85% for extra-abdominal tumors. (1,3) In the head and neck region, the rate appears to vary between 46 and 62%. (4) Most recurrences occur within 2 years, which is the minimum time recommended for follow-up; the recurrence risk is higher for younger patients. (3,4) Hoos et al could not identify any correlation between microscopic margins and recurrence. (4) Baerg et al contend that recurrence in childhood fibromatosis is more likely in an older child, in incomplete resection, or when the tumor displays a higher mitotic index, areas of necrosis, or inflammation. (11) Follow- up should include a detailed clinical examination and frequent cross-sectional imaging. (2)
It is interesting to note that although this entity has been known for many decades, there has been confusion regarding its specific characteristics, resulting in the use of different names by different authors to describe the same lesion. In the past, aggressive fibromatosis has been known as juvenile fibromatosis, desmoplastic fibromatosis, extra-abdominal desmoid, and congenital fibrosarcoma. (10)
We have identified a significant number of patients with this tumor in the literature, but the lack of consensus regarding management is impressive. Not only are there contradicting opinions regarding complete surgical excision and how this affects recurrence, but also regarding the use of radiation treatment as an adjuvant or sole means of treatment. This highlights the need for these tumors to be managed by a multidisciplinary team, so that specialists will be available to assess all relevant information, including the patient's age, comorbidity, tumor extent, possible recurrence, and loss of function. Because this disease seems to affect relatively young patients, preservation of function is significant and creates interesting clinical dilemmas regarding complete surgical excision. Although some authors contend that a clear surgical margin is of paramount importance, others contend that preservation of function is equally significant in the light of the very high recurrence rate that these lesions display.
Our case was managed by a group of specialists including an otolaryngologist, a maxillofacial surgeon, a plastic surgeon, and a medical oncologist, together with the invaluable assistance of a dietitian and a speech and language therapist. This led to an uneventful, quick recovery, and our young patient was discharged without any impediment in her speech or swallowing. There was no evidence of recurrence over a 6-month follow-up period.
Very common diseases can sometimes distract from the diagnosis of rarer lesions. Therefore, detailed attention should be paid to all clinical information. Any unusual presentation or disease course should raise suspicion for further investigation and reassessment of the case. Follow-up should be offered to all patients diagnosed with peritonsillar abscess whose history and symptoms differ in any way from those of a classic case.
Aggressive fibromatosis is best managed in the setting of a multidisciplinary team of specialists. The roles of radiotherapy and chemotherapy need to be defined, and a uniform approach needs to be adopted in the management of this disease.
(1.) Collins BJ, Fischer AC, Tufaro AP. Desmoid tumors of the head and neck: A review. Ann Plast Surg 2005;54(1): 103-8.
(2.) Sanders KW, Fowler MR, Milner J, et al. Aggressive fibromatosis of the parapharyngeal space: Two cases and treatment recommendations. Ear Nose Throat J 2004;83(4):262,264,266.
(3.) Lessow AS, Song P, Komisar A. Unusual fibromatosis of the head and neck. Otolaryngol Head Neck Snrg 2004; 130(3):366-9.
(4.) Hoos A, Lewis JJ, Urist MJ, et al. Desmoid tumors of the head and neck--a clinical study of a rare entity. Head Neck 2000;22 (8):814-21.
(5.) West CB Jr., Shagets FW, Mansfield MJ. Nonsurgical treatment of aggressive fibromatosis in the head and neck. Otolaryngol Head Neck Surg 1989;101(3):338-43.
(6.) Abdelkader M, Riad M, Williams A. Aggressive fibromatosis of the head and neck (desmoid tumours). J Laryngol Otol 2001 ;115 (10): 772-6.
(7.) Park HC, Pyo HR, Shin KH, Suth CO. Radiation treatment for aggressive fibromatosis: Findings from observed patterns of local failure. Oncology 2003;64(4):346-52.
(8.) Goepfert H, Cangir A, Ayala A, Eftekhari F. Chemotherapy of locally aggressive head and neck tumors in the pediatric age group. Desmoid fibromatosis and nasopharyngeal angiofibroma. Am J Surg 1982;144(4):437-44.
(9.) Fasching MC, Saleh I, Woods JE. Desmoid tumors of the head and neck. Am J Surg 1988;156(4):327-31.
(10.) Donohue WB, Malexos D, Pham H. Aggressive fibromatosis of the maxilla. Report of a case and review of the literature. Oral Surg Oral Med Oral Pathol 1990;69(4):420-6.
(11.) Baerg J, Murphy JJ, Magee JF. Fibromatoses: Clinical and pathological features suggestive of recurrence. J Pediatr Surg 1999;34(7): 1112-14.
Eleftheria Kiverniti, MRCSEd, DO-HNS; Ulkem Cilasun, DDS, PhD; Arvind Singh, BSc, MRCS, DLO; Rehan Kazi, MS; Peter M. Clarke, BSc, FRCS; Daniel J. Archer, FDSRCS, FRCS
From the Department of Head and Neck Surgery, The Royal Marsden Hospital, London, U.K.
Corresponding author: Mr. Peter M. Clarke, The Royal Marsden Hospital, Fulham Rd., London SW3 6JJ UK. Phone: 44-207-352-8171; e-mail:Peter.Clarke@rmh.nhs.uk
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|Title Annotation:||ORIGINAL ARTICLE|
|Author:||Kiverniti, Eleftheria; Cilasum, Ulkem; Singh, Arvind; Kazi, Rehan; Clarke, Peter M.; Archer, Daniel|
|Publication:||Ear, Nose and Throat Journal|
|Article Type:||Case study|
|Date:||May 1, 2009|
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