Fibromatosis

Abstract

Head and neck fibromatosis is a rare disease with a variable clinical picture. We report the case of a 40-year-old woman who had a 1-week history of a painless mass overlying her right neck. Histology confirmed a diagnosis of extra-abdominal fibromatosis. Two unusual features of this case were the site of the lesion and its rapid growth. In this article, we discuss the clinical picture of head and neck fibromatosis, its etiology and pathology, and current opinion regarding its treatment.

Introduction

Fibromatosis (desmoid tumor) was first described in 1832 by McFarlane. (1) The term desmoid, which was coined in 1838 by Muller, derives from the Greek desmos, which means band or ligament and is used to indicate an aponeurosis. (1)

Desmoid tumors are nonmetastasizing soft-tissue masses that biologically fall between benign fibromas and malignant fibrosarcomas. Desmoid tumors can be divided into three subgroups: extra-abdominal, abdominal, and intra-abdominal. The natural progression of desmoid tumors occurs slowly, and locally invasive growth leads to the compromise of local structures. (2) Desmoid tumors are rare, accounting for only 0.03% of all neoplasms and 3% of all soft-tissue tumors. (3) Extra-abdominal desmoid tumors are even less common.

In this article, we report a case of extra-abdominal fibromatosis that was unusual not only in terms of its site, but also because of its rapid growth.

Case report

A 40-year-old woman came to us with a 1-week history of a right neck mass. The mass had increased rapidly in size over this period and was associated with intermittent pain in the right anterior aspect of her face and neck. The patient's medical history included a C4-C7 vertebral fusion 2 years earlier and removal of a displaced bone graft 5 months later.

Clinical examination revealed a tender, solitary 4 x 3cm mass in the right anterior triangle (level II) with extension over the sternocleidomastoid muscle. The mass was hard in consistency, had a smooth surface, and was immobile. Computed tomography (CT) of the neck detected a mass of uniform density that extended from the level of the hyoid bone to the lower aspect of the thyroid gland (figure 1). Ultrasound-guided Tru-Cut needle biopsy was performed, and histology identified dense connective tissue that contained strands of collagen mixed with plump fibroblasts with prominent nucleoli. The tissue was whorled in appearance around thin-walled blood vessels. There was no notable inflammation or obvious mitotic activity.

The patient was admitted to the hospital, and she underwent a complete macroscopic excision. Surgical exploration revealed an extensive 8 x 6-cm lesion in the right neck, deep to the stemocleidomastoid muscle and abutting the internal jugular vein, common carotid artery, and submandibular gland. The mass was hard in consistency and tethered to the carotid sheath with obliteration of fascial planes. A safe macroscopic excision was performed without sacrificing the neurovascular structures. Sectioning of the specimen revealed homogeneous, glistening, pale pink-white tissue with a rim of fatty tissue in places.

Histologically, the appearance of the specimen was similar to that of the Tru-Cut needle biopsy specimen; it was characterized by bundles of spindle cells and collagen and featured only a focal storiform pattern. The cells were relatively small with tiny nucleoli, but no cellular pleomorphism was observed. Mitotic figures were normal and few in number (figure 2). There were a few lymphoid aggregates at the margins of the specimen, and the lesion infiltrated into fat, connective tissue, and skeletal muscle, with associated destruction and giant-cell formation in the muscle. A diagnosis of extra-abdominal fibromatosis was made.

At the most recent follow-up, the patient remained disease-free, and she exhibited no clinical or radiologic evidence of recurrence.

Discussion

Extra-abdominal tumors. Extra-abdominal fibromatosis tends to occur as a solitary, painless, deep, firm, poorly circumscribed tumor that develops over a period of weeks to months. Pain is rare unless there is nerve involvement. Indeed, other symptoms arise only when local structures are involved. When nerves are involved, the patient might experience pain, anesthesia, paresthesia, hyperesthesia, and weakness. Involvement of the local musculature can result in a loss of limb function. (2) The most common sites of extra-abdominal tumors are the pelvic and shoulder girdles and proximal extremities (50% of all cases), the trunk (43%), and the head and neck region (7%). (4)

Abdominal tumors. Abdominal-wall fibromatosis typically occurs during or following pregnancy. These tumors can be discovered as an incidental finding or they can be identified during an investigation of pain or a growth.

Intra-abdominal tumors. Intra-abdominal fibromatosis can remain silent or it can appear in association with a fistula, abdominal pain, small-bowel obstruction, ureteric obstruction, and, in rare cases, bowel perforation. (5) The incidence of these tumors is higher in children older than 6 years and in young adults. (1) The incidence is also higher among females, who are affected at an earlier age than are males; females are also more likely than males to have multiple tumors. (4-6) Morbidity and mortality are associated with the lesion's local effects and with other diseases.

Etiology. The etiology of desmoid tumors is not clearly defined, but there are a number of suspected associations:

Trauma and surgery. Surgical scars and laparoscopic port sites have been reported as sites of tumor growth, as have irradiated areas and sites of specific injury. (1,5-9)

Pregnancy and oral contraceptives. Hormonal factors are linked to abdominal-wall desmoid tumors. There are also reports of spontaneous regression of tumors following oophorectomy or menopause. (4,9-13)

Gardner's syndrome. Intra-abdominal desmoid tumors are often associated with Gardner's syndrome, which is an autosomal condition that is characterized by polyposis coli, osteomas, cutaneous or follicular cysts, and fibromas. (1,2,7)

Genetic mutations. No definite genetic link to desmoid tumors has been found, but there has been a report of an extra-abdominal desmoid tumor arising in a patient with muscular dystrophy of the limb girdle (Chr 1 mutation). (14) There have also been reports of tumors in several members of one family. (15,16)

Histopathology. Histopathologically, desmoid tumors can be confused with low-grade malignancies (e.g., a grade I fibrosarcoma). Other disease processes to be considered in the differential diagnosis include nodular fasciitis and reactive fibroblastic proliferation. Although desmoid tumors are histologically benign, molecular studies have shown them to be neoplastic, and they do not represent a response to intense inflammation. Their neoplastic nature has been confirmed by a demonstration that these tumors are the result of monoclonal processes that often involve chromosomal aberrations and by a finding that their proliferation might be driven by a decreased expression of the retinoblastoma gene. (4)

Microscopically, desmoid tumors appear as poorly circumscribed masses of fibrous tissue that contain myofibroblasts and fibroblasts surrounded by collagen. Numerous spindle cells are apparent, and stromal blood vessels are narrow and slit-like. Mitoses are few in number, and nuclei are elongated and usually vesicular with multiple small nucleoli. The cell cytoplasm is elongated and tapered. (2,4) Expression of estrogen receptors has been reported, but this has not been widely demonstrated. (1,7) Immunohistochemical stains for vimentin, alpha smoothmuscle actin, and muscle actin are often positive, (17) and the presence of proliferating cell nuclear antigen has been documented. (7)

Management. Managing desmoid tumors has proved to be challenging because of the difficulty in assessing the true extent of the tumors, both clinically and histologically, along with the high recurrence rate following intervention. Surgery is the first-line treatment, with or without adjuvant radiation therapy. (8,18,19) Wide excisional margins encompassing normal tissue are desired to minimize the possibility of nonpalpable extensions along muscle bundles and fascial planes. (1,4-7) Despite wide margins, reports of recurrence in 25 to 86% of patients have been documented (8,19-28); patients with extra-abdominal tumors, especially on the extremities, are at higher risk. (2) It is still unclear whether the positivity or negativity of resection margins is useful in predicting local recurrence rates. (4) Magnetic resonance imaging might be useful in delineating the tumor outline for resection. Such delineation might lead to a reduction in the risk of recurrence, which was reported in one study to range from 39 to 48%. (1)

Reports of benefit from radiotherapy have been variable. Results have ranged from no decrease in local recurrence rates (4,8) to good long-term control rates as high as 76%. (6,19,20,29) However, radiotherapy is believed to be of value (1) as an adjunct to surgery when only conservative excision is possible or (2) as a primary treatment when a tumor is unresectable. (1,2) Radiotherapy can significantly reduce the volume of viable tumor prior to surgery, and it can decrease the need for more radical interventions such as amputation. (6,29) The benefits of high-dose radiation should be balanced with its potential side effects, which include postirradiation fibrosis, joint contractures, neuropathy, radiation-induced sarcoma, and disturbance of physeal growth plates in younger patients. (1)

Other treatment options are still in experimental stages, and only small numbers have been reported thus far. Trials of chemotherapeutic agents are in their early phases, and no benefit has yet been shown. One of the limitations of chemotherapy is that desmoid tumors grow so slowly. (1,5) Nonsteroidal anti-inflammatory drugs have been proposed as a treatment option, but results are conflicting. (1,5) Some reports of endocrine treatments--including antiestrogens and progestational agents--have been promising. In one study, the overall response to tamoxifen was 51%, despite the fact that most desmoid tumors lack estrogen receptors. (7)

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From the Department of Otolaryngology--Head and Neck Surgery, Aberdeen Royal Infirmary, University of Aberdeen, Scotland.

Reprint requests: Akhtar Hussain, FRCS, Department of Otolaryngology--Head and Neck Surgery, Aberdeen Royal Infirmary, Ward 45, University of Aberdeen, Foresterhill, Aberdeen, AB25 2ZN, Scotland. Phone: 44-1224-552-584; fax: 44-1224-554-569; email: akhtarhussain@headandneck.freeserve.co.uk

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