DOI: 10.1148/rg.283075169
RadioGraphics 2008;28:901-906
© RSNA, 2008
Best Cases from the AFIP
Extraabdominal Desmoid-type Fibromatosis1
Elizabeth S. McDonald, MD, PhD,
Eunhee S. Yi, MD, and
Doris E. Wenger, MD
1 From the Departments of Radiology (E.S.M., D.E.W.) and Pathology (E.S.Y.), Mayo Clinic, 200 1st St SW, Rochester, MN 55902. Received August 9, 2007; revision requested September 5 and received January 11, 2008; accepted January 16. All authors have no financial relationships to disclose.
Address correspondence to D.E.W. (e-mail: wenger.doris{at}mayo.edu).
 |
History
|
|---|
An 18-year-old woman presented with a 5-month history of an enlarging mass in the posterior aspect of her distal left calf. The mass had been diagnosed 1 month prior as desmoid-type fibromatosis by using magnetic resonance (MR) imaging and computed tomography (CT)–guided biopsy at an outside institution. At initial examination, there was a painless mass involving the Achilles tendon that measured approximately 2 x 7 cm. The initial symptoms were limited to calf tightness in the morning that resolved with stretching. Three-month observation was recommended. Eight months after diagnosis, follow-up MR images showed mild tumor progression, and 3-month observation was again recommended. Eleven months after diagnosis, follow-up MR images again showed mild progression. The mass was increasing by approximately 0.5 cm in anterior to posterior and transverse dimensions and by 1 cm in the superior to inferior dimension during the 3-month intervals. Low-dose chemotherapy with methotrexate and etoposide was instituted. However, elevated levels of liver enzymes required that the chemotherapeutic regimen be discontinued after a few months. Further treatments over the following 19 months included cryogenic ablation, radiofrequency ablation, acetic acid injections, and imatinib mesylate. These treatments were not effective; the tumor progressed to involve the popliteal fossa. The patient’s range of motion was severely limited, with fixed plantar flexion of the ankle. Amputation was considered 48 months after diagnosis. Fifty-eight months after diagnosis, radiation therapy was begun with 6000 cGy at 200 cGy per fraction given over 6 weeks. Irradiation caused the tumor size to decrease by 2–3 cm.
A follow-up examination 4 months after radiation treatment (62 months after diagnosis) showed mild tumor progression. By this time, the patient was using crutches to ambulate short distances and a wheelchair for long distances. The lower left leg was firm, indurated, and nearly twice the size of the normal-sized right leg (Fig 1). The presence of fixed, 50° left ankle equinus and 50° knee flexion contractures prevented the patient from standing upright; knee flexion was limited to 90°. The tumor now extended from the ankle flexion crease to above the knee. Although the mass was not painful to light touch, it virtually replaced the posterior compartment, including the Achilles tendon distally, beginning just above the ankle. Neurologic examination results were normal. Left adductor-sparing transfemoral amputation was performed 62 months after diagnosis to improve function and halt progression of the tumor.
Three months after the amputation, a follow-up examination demonstrated no evidence of recurrence. A final follow-up is scheduled at 1 year after the amputation.
|
Imaging Findings
|
|---|
Noncontrast material–enhanced axial T1-weighted images of the proximal (Fig 2a) and distal (Fig 2c) left calf demonstrated a large, heterogeneous fusiform intermuscular mass that involved the lateral head of the gastrocnemius and soleus muscles in the superficial posterior compartment of the leg. The mass had low to intermediate signal intensity on T1-weighted images. Axial fast spin-echo inversion recovery (FSE IR) images of the same levels in the proximal (Fig 2b) and distal (Fig 2d) calf showed that the heterogeneous mass had predominant regions of hypointense signal relative to muscle with scattered intervening areas that were equal to and of higher signal intensity than that of muscle. More discrete low-signal-intensity bands were also present (Fig 2d, 2f). On FSE IR images, there was increased signal intensity within the musculature surrounding the mass, a finding most likely related to prior therapy. Sagittal T1-weighted (Fig 2e) and FSE IR images (Fig 2f) of the calf illustrated the morphology and the anatomic extent (superior to inferior) of the tumor, which extended from the popliteal fossa (not shown) to the distal leg just above the ankle, where it was intimately associated with the Achilles tendon (Fig 2c, 2e). The constellation of imaging features—lobulated fusiform morphology, association with intervening fascia and Achilles tendon, bandlike areas of low signal intensity, and location in the superficial posterior compartment musculature—is characteristic of desmoid-type fibromatosis. The mass measured 8 x 12 cm in maximum transverse dimension; extended over a superior to inferior extent of approximately 36 cm; and had mass effect on the popliteal artery, vein, and tibial nerve at the popliteal fossa (not shown). In the calf, there was no involvement of the anterior and posterior tibial artery or veins, tibial nerve, or deep peroneal nerve. Radiographs appeared normal and showed no soft-tissue calcifications or periosteal reaction in the adjacent bones.
View larger version (145K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 2a. (a, c) Axial T1-weighted MR images of the proximal (a) and distal (c) left calf demonstrate a large fusiform mass (arrowheads in a) involving the lateral head of the gastrocnemius and soleus muscles in the superficial posterior compartment of the leg. Arrow in c = Achilles tendon. (b, d) Axial FSE IR images of the same levels in the proximal (b) and distal (d) calf show that the heterogeneous mass has predominant regions of hypointense signal relative to muscle (arrowheads in b) with scattered intervening areas of intermediate to high signal intensity and a low-signal-intensity band (arrow in d). (e, f) Sagittal T1-weighted (e) and FSE IR (f) images of the calf illustrate the lobulated fusiform morphology of the tumor (arrowheads in e) and the superior to inferior anatomic extent that extends from the popliteal fossa (not shown) to the distal leg just above the ankle, where it is intimately associated with the intervening fascia and Achilles tendon (arrow in e). Multiple low-signal-intensity bands are present (arrows in f).
|
|
View larger version (155K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 2b. (a, c) Axial T1-weighted MR images of the proximal (a) and distal (c) left calf demonstrate a large fusiform mass (arrowheads in a) involving the lateral head of the gastrocnemius and soleus muscles in the superficial posterior compartment of the leg. Arrow in c = Achilles tendon. (b, d) Axial FSE IR images of the same levels in the proximal (b) and distal (d) calf show that the heterogeneous mass has predominant regions of hypointense signal relative to muscle (arrowheads in b) with scattered intervening areas of intermediate to high signal intensity and a low-signal-intensity band (arrow in d). (e, f) Sagittal T1-weighted (e) and FSE IR (f) images of the calf illustrate the lobulated fusiform morphology of the tumor (arrowheads in e) and the superior to inferior anatomic extent that extends from the popliteal fossa (not shown) to the distal leg just above the ankle, where it is intimately associated with the intervening fascia and Achilles tendon (arrow in e). Multiple low-signal-intensity bands are present (arrows in f).
|
|
View larger version (130K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 2c. (a, c) Axial T1-weighted MR images of the proximal (a) and distal (c) left calf demonstrate a large fusiform mass (arrowheads in a) involving the lateral head of the gastrocnemius and soleus muscles in the superficial posterior compartment of the leg. Arrow in c = Achilles tendon. (b, d) Axial FSE IR images of the same levels in the proximal (b) and distal (d) calf show that the heterogeneous mass has predominant regions of hypointense signal relative to muscle (arrowheads in b) with scattered intervening areas of intermediate to high signal intensity and a low-signal-intensity band (arrow in d). (e, f) Sagittal T1-weighted (e) and FSE IR (f) images of the calf illustrate the lobulated fusiform morphology of the tumor (arrowheads in e) and the superior to inferior anatomic extent that extends from the popliteal fossa (not shown) to the distal leg just above the ankle, where it is intimately associated with the intervening fascia and Achilles tendon (arrow in e). Multiple low-signal-intensity bands are present (arrows in f).
|
|
View larger version (173K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 2d. (a, c) Axial T1-weighted MR images of the proximal (a) and distal (c) left calf demonstrate a large fusiform mass (arrowheads in a) involving the lateral head of the gastrocnemius and soleus muscles in the superficial posterior compartment of the leg. Arrow in c = Achilles tendon. (b, d) Axial FSE IR images of the same levels in the proximal (b) and distal (d) calf show that the heterogeneous mass has predominant regions of hypointense signal relative to muscle (arrowheads in b) with scattered intervening areas of intermediate to high signal intensity and a low-signal-intensity band (arrow in d). (e, f) Sagittal T1-weighted (e) and FSE IR (f) images of the calf illustrate the lobulated fusiform morphology of the tumor (arrowheads in e) and the superior to inferior anatomic extent that extends from the popliteal fossa (not shown) to the distal leg just above the ankle, where it is intimately associated with the intervening fascia and Achilles tendon (arrow in e). Multiple low-signal-intensity bands are present (arrows in f).
|
|
View larger version (72K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 2e. (a, c) Axial T1-weighted MR images of the proximal (a) and distal (c) left calf demonstrate a large fusiform mass (arrowheads in a) involving the lateral head of the gastrocnemius and soleus muscles in the superficial posterior compartment of the leg. Arrow in c = Achilles tendon. (b, d) Axial FSE IR images of the same levels in the proximal (b) and distal (d) calf show that the heterogeneous mass has predominant regions of hypointense signal relative to muscle (arrowheads in b) with scattered intervening areas of intermediate to high signal intensity and a low-signal-intensity band (arrow in d). (e, f) Sagittal T1-weighted (e) and FSE IR (f) images of the calf illustrate the lobulated fusiform morphology of the tumor (arrowheads in e) and the superior to inferior anatomic extent that extends from the popliteal fossa (not shown) to the distal leg just above the ankle, where it is intimately associated with the intervening fascia and Achilles tendon (arrow in e). Multiple low-signal-intensity bands are present (arrows in f).
|
|
View larger version (77K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 2f. (a, c) Axial T1-weighted MR images of the proximal (a) and distal (c) left calf demonstrate a large fusiform mass (arrowheads in a) involving the lateral head of the gastrocnemius and soleus muscles in the superficial posterior compartment of the leg. Arrow in c = Achilles tendon. (b, d) Axial FSE IR images of the same levels in the proximal (b) and distal (d) calf show that the heterogeneous mass has predominant regions of hypointense signal relative to muscle (arrowheads in b) with scattered intervening areas of intermediate to high signal intensity and a low-signal-intensity band (arrow in d). (e, f) Sagittal T1-weighted (e) and FSE IR (f) images of the calf illustrate the lobulated fusiform morphology of the tumor (arrowheads in e) and the superior to inferior anatomic extent that extends from the popliteal fossa (not shown) to the distal leg just above the ankle, where it is intimately associated with the intervening fascia and Achilles tendon (arrow in e). Multiple low-signal-intensity bands are present (arrows in f).
|
|
|
Pathologic Evaluation
|
|---|
The pathologic specimen was received en bloc. Its measurements were: 24.0 cm, left foot; 45.0 cm, left lower leg; and 14.0 cm, left upper leg. The gross specimen demonstrated a firm multiloculated mass along the posterior aspect of the lower extremity that measured 28.0 x 11.0 x 8.0 cm (Fig 3). Surgical margins were widely free (the proximal margin was free by 9.0 cm).
View larger version (63K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 3. Photograph of the gross pathologic specimen shows a firm, white lobulated fusiform mass (arrows) involving the posterior left calf including the Achilles tendon (arrowhead).
|
|
Histologic examination revealed bandlike sheets of spindle cells with intervening collagen matrix infiltrating the adjacent skeletal muscles, a finding consistent with desmoid-type fibromatosis (Fig 4). The fibrocytic cells surrounded the nerve fibers and compressed the blood vessels. The majority of proliferating cells were mature fibrocytes with occasional foci of myofibroblastic cells. No mitotic activity was identified.
View larger version (149K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 4. Low-power photomicrograph (original magnification, x40; hematoxylin-eosin stain) demonstrates a diffuse proliferation of bland-appearing fibrocytic cells (arrowheads at the tumor-neural sheath interface) encircling a nerve fiber (*) and infiltrating the adjacent skeletal muscles and fat (arrows at the tumor-muscle interface).
|
|
|
Discussion
|
|---|
Definition and Etiology
Fibromatoses are a group of benign fibrous tissue proliferations characterized by infiltrative growth and a tendency to recur locally without metastasis. The two major groups are superficial (fascial) and deep (musculoaponeurotic). The deep fibromatoses are characterized as extraabdominal, abdominal, and intraabdominal. Extraabdominal desmoid-type fibromatosis (also known as extraabdominal desmoid, well-differentiated nonmetastasizing fibrosarcoma, and aggressive fibromatosis) arises from the connective tissue of muscle and its overlying aponeurosis or fascia (1). Abdominal fibromatosis involves the musculoaponeurotic structures of the abdominal wall. It is similar to extraabdominal fibromatosis in gross appearance and histologic features, but it is classified separately because of its unique patient population; that is, it classically occurs in young women during or following pregnancy (1). Intraabdominal fibromatosis is histologically related to the other fibromatoses, but it has a different location and clinical manifestations. These include pelvic fibromatosis (iliac fossa and lower pelvis), mesenteric fibromatosis (most commonly, small-bowel mesentery), and mesenteric fibromatosis associated with Gardner syndrome (1).
Although the etiology of extraabdominal desmoid-type fibromatosis is not known, some associations include genetics, hormonal status (related to pregnancy and often regressing after delivery), and prior trauma (2). The condition most commonly manifests between puberty and age 40 years, with the highest frequency of cases occurring between 25 and 35 years of age (1). Women are more likely than men to be affected, and the tumors are more aggressive in younger patients (3); patients younger than 30 years have higher relapse rates than do those over 30 years of age (4). The tumors are also multicentric in approximately 10%–15% of cases (5).
Histologic and Imaging Characteristics
Desmoid-type fibromatosis has characteristic growth along fascial planes and may infiltrate adjacent subcutaneous tissue and muscle (1). At microscopic examination, the tumors are composed of alternating bundles of locally infiltrating, monomorphic elongated, spindle-shaped fibroblast and myofibroblast bundles within a collagenous stroma (3,6). Mitotic activity and cellularity are low (four mitoses per 50 high-power field) (7). The cells are usually actin-positive and CD34- and S100-negative (7). Masson trichrome and reticulin staining can be used to reveal collagen interlaced between tumor cells (1); staining correlates with cellularity. Necrosis and hemorrhage are not features of this tumor.
At macroscopic examination, specimens are usually composed of nonencapsulated gray-white tissue confined to the musculature and overlying fascia or aponeurosis (1,8). The gross specimens are firm and glistening white on cross section and resemble scar tissue (1).
Desmoid-type fibromatoses are commonly intermuscular masses of deep soft tissue, are iso- to mildly hyperintense relative to muscle on T1-weighted images, and iso- to hyperintense relative to muscle on T2-weighted images (9). One case series of 47 soft-tissue masses revealed seven lesions that displayed a lower signal than that of muscle on T2-weighted images. These lesions had less cellularity and more collagen than did those tumors with high T2 signal intensity (10).
In another series of 29 cases of desmoid-type fibromatosis, 77% were hyperintense relative to skeletal muscle on T2-weighted images. Of these, 65% were heterogeneous (9). The unusual characteristic of heterogeneous, bandlike low-signal-intensity areas on T1- and T2-weighted images is a distinguishing feature of desmoid-type fibromatosis. The nonenhancing hypointense bands are thought to represent areas of increased fibrosis composed of a higher degree of collagen content. A higher percentage of cellularity (as opposed to collagen) correlates with higher signal intensity on T2-weighted and short inversion time inversion recovery images (11). The characteristic bandlike growth along fascial planes was seen in our case and corresponds to long fusiform lesion morphology. Desmoid-type fibromatosis may displace or invade adjacent structures (3) and avidly enhance with administration of contrast material, particularly in more cellular regions (5,9).
The findings on MR images of a large, fusiform intermuscular soft-tissue mass involving the superficial fascia with low signal intensity on T1-weighted images and a heterogeneous appearance on FSE IR images, including bandlike areas of low signal intensity, is diagnostic of locally aggressive desmoid-type fibromatosis. Other diagnoses, such as a fibrosarcoma or posttraumatic reactive fibroblastic proliferations, can be excluded on the basis of characteristic imaging findings. Histologic specimens are typically obtained prior to treatment to confirm the imaging impression.
Clinical Features
Extraabdominal desmoid-type fibromatosis often begins as a painless, deep soft-tissue mass in the lower extremity (eg, thigh, foot, or ankle), upper extremity (eg, shoulder or hand), or the head and neck (12). Desmoid-type fibromatoses are locally invasive and commonly recur locally but do not metastasize.
Treatment
Surgery and radiation therapy, either alone or in combination, have been used to treat extraabdominal desmoids. One study reviewed the literature on treatment of these lesions published in a 15-year period and found that surgical resection with negative margins yielded 72% local control without use of radiation therapy and 94% with irradiation. For cases in which surgery was performed but the margins were positive, the local control was 41% without radiation therapy and 75% with irradiation. When only radiation therapy was used, local control was 78% (13).
A different retrospective review of 189 consecutive cases of desmoid-type fibromatosis divided patients into three similar groups. For the patients with gross disease treated with surgery alone, the 10-year actuarial relapse rate was 38% (27% for negative margins and 54% for positive margins). Resection combined with radiation therapy had a 10-year actuarial relapse rate of 25%. Radiation therapy alone had a 10-year actuarial relapse rate of 24%. Radiation doses of around 56 Gy (2 Gy per fraction) with a 5–8-cm margin around the tumor were optimal (4).
If the tumor is not easily resectable, first-line treatment with sulindac and tamoxifen has been suggested (14), but no large, prospective controlled studies have been performed. Hormonal therapy, such as tamoxifen, has resulted in a response rate of approximately 50% (15,16). Intramuscular progesterone resulted in a 73% response rate in one small case series (17). Trials to evaluate therapy are complicated by occasional spontaneous tumor regression (18). One observational study with a 6-year mean follow-up demonstrated spontaneous tumor regression in about 10% of patients, cyclic growth and remission in 29%, stability in 47%, and rapid growth in 10% (19).
Low-dose (vinorelbine and methotrexate) and standard (doxorubicin and dacarbazine) chemotherapy may be used as adjuvant therapy, particularly for recurrent tumors. Improved tumor control and more side effects are seen with the standard regimens (2). Imatinib has also been used to treat desmoid-type fibromatosis (6,20).
In summary, this was a case of a desmoid-type fibromatosis that relentlessly progressed. Multiple recurrences eventually required amputation for definitive treatment.
|
Footnotes
|
|---|
Abbreviations: FSE IR = fast spin-echo inversion recovery
Editor’s Note.—Everyone who has taken the course in radiologic pathology at the Armed Forces Institute of Pathology (AFIP) remembers bringing beautifully illustrated cases for accession to the Institute. In recent years, the staff of the Department of Radiologic Pathology has judged the "best cases" by organ system, and recognition is given to the winners on the last day of the class. With each issue of RadioGraphics, one or more of these cases are published, written by the winning resident. Radiologic-pathologic correlation is emphasized, and the causes of the imaging signs of various diseases are illustrated.
|
References
|
|---|
- Fibromatoses. In: Weiss SW, Goldblum JR, eds. Enzinger and Weiss’s soft tissue tumors. 4th ed. St Louis, Mo: Mosby, 2001; 320–329.
- Okuno S. The enigma of desmoid tumors. Curr Treat Options Oncol 2006;7(6):438–443.[CrossRef][Medline]
- Woertler K. Soft tissue masses in the foot and ankle: characteristics on MR imaging. Semin Musculoskelet Radiol 2005;9(3):227–242.[CrossRef][Medline]
- Ballo MT, Zagars GK, Pollack A, Pisters PW, Pollack RA. Desmoid tumor: prognostic factors and outcome after surgery, radiation therapy, or combined surgery and radiation therapy. J Clin Oncol 1999;17(1):158–167.[Abstract/Free Full Text]
- Robbin MR, Murphey MD, Temple HT, Kransdorf MJ, Choi JJ. Imaging of musculoskeletal fibromatosis. RadioGraphics 2001;21(3):585–600.[Abstract/Free Full Text]
- Wcislo G, Szarlej-Wcislo K, Szczylik C. Control of aggressive fibromatosis by treatment with imatinib mesylate: a case report and review of the literature. J Cancer Res Clin Oncol 2007;133(8):533–538.[CrossRef][Medline]
- Ferenc T, Sygut J, Kopczynski J, et al. Aggressive fibromatosis (desmoid tumors): definition, occurrence, pathology, diagnostic problems, clinical behavior, genetic background. Pol J Pathol 2006; 57(1):5–15.[Medline]
- Pakos EE, Tsekeris PG, Goussia AC. Desmoid tumours of the extremities and trunk: a review of the literature. Int Orthop 2005;29(4):210–213.[CrossRef][Medline]
- Lee JC, Thomas JM, Phillips S, Fisher C, Moskovic E. Aggressive fibromatosis: MRI features with pathologic correlation. AJR Am J Roentgenol 2006; 186(1):247–254.[Abstract/Free Full Text]
- Sundaram M, McGuire MH, Schajowicz F. Soft-tissue masses: histologic basis for decreased signal (short T2) on T2-weighted MR images. AJR Am J Roentgenol 1987;148(6):1247–1250.[Abstract/Free Full Text]
- McCarville MB, Hoffer FA, Adelman CS, Khoury JD, Li C, Skapek SX. MRI and biologic behavior of desmoid tumors in children. AJR Am J Roentgenol 2007;189(3):633–640.[Abstract/Free Full Text]
- Kransdorf MJ. Benign soft-tissue tumors in a large referral population: distribution of specific diagnoses by age, sex, and location. AJR Am J Roentgenol 1995;164(2):395–402.[Abstract/Free Full Text]
- Nuyttens JJ, Rust PF, Thomas CR, Turrisi AT. Surgery versus radiation therapy for patients with aggressive fibromatosis or desmoid tumors: a comparative review of 22 articles. Cancer 2000;88(7): 1517–1523.[CrossRef][Medline]
- Hansmann A, Adolph C, Vogel T, Unger A, Moeslein G. High-dose tamoxifen and sulindac as first-line treatment for desmoid tumors. Cancer 2004; 100(3):612–620.[CrossRef][Medline]
- Wilcken N, Tattersall MH. Endocrine therapy for desmoid tumors. Cancer 1991;68(6):1384–1388.[CrossRef][Medline]
- Morris LG, Sikora AG, Kuriakose MA, DeLacure MD. Tamoxifen therapy for aggressive fibromatosis of the posterior triangle of the neck. Otolaryngol Head Neck Surg 2007;136(4):674–667.[CrossRef][Medline]
- Lanari A. Effect of progesterone on desmoid tumors (aggressive fibromatosis). N Engl J Med 1983; 309(24):1523.[Medline]
- Lev D, Kotilingam D, Wei C, et al. Optimizing treatment of desmoid tumors. J Clin Oncol 2007; 25(13):1785–1791.[Abstract/Free Full Text]
- Church JM. Desmoid tumours in patients with familial adenomatous polyposis. Semin Colon Rectal Surg 1995;6:29–32.
- Heinrich MC, McArthur GA, Demetri GD, et al. Clinical and molecular studies of the effect of imatinib on advanced aggressive fibromatosis (desmoid tumor). J Clin Oncol 2006;24(7):1195–1203.[Abstract/Free Full Text]
Top
History
Imaging Findings
