A to Z of Desmoid Tumors

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1 Special rticle Pictorial Essay Shinagare et al. Imaging of Desmoid Tumors Special rticle Pictorial Essay Downloaded from by on 11/27/17 from IP address Copyright RRS. For personal use only; all rights reserved tul. Shinagare 1 Nikhil H. Ramaiya 1 Jyothi P. Jagannathan 1 Katherine M. Krajewski 1 ngela. Giardino 1 James E. utrynski 2 Chandrajit P. Raut 3 Shinagare, Ramaiya NH, Jagannathan JP, et al. Keywords: complications, deep fibromatosis, desmoid tumors, extraabdominal desmoids, treatment-related changes DOI: /JR Received February 10, 2011; accepted after revision May 3, Department of Imaging, Dana-Farber Cancer Institute, and Department of Radiology, righam and Women s Hospital, 450 rookline ve, oston, M ddress correspondence to.. Shinagare (ashinagare@partners.org). 2 Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, oston, M. 3 Department of Surgery, righam and Women s Hospital, Harvard Medical School, oston, M. WE This is a Web exclusive article. JR 2011; 197:W1008 W X/11/1976 W1008 merican Roentgen Ray Society to Z of Desmoid Tumors OJECTIVE. The purpose of this article is to illustrate the common locations of desmoid tumors (deep fibromatosis), complications of intra- and extraabdominal desmoids, and treatment-related changes in their imaging appearance. CONCLUSION. Desmoids are locally aggressive fibrous tumors with a tendency to recur. Desmoids can be intraabdominal, in the abdominal wall, or extraabdominal. Complications, such as compression or invasion of adjacent structures, and abscess formation can occur. Treatment options include observation, local treatment (surgery, radiotherapy), or systemic therapy (conventional chemotherapy, molecular targeted agents). D esmoid tumors, also called deep or aggressive fibromatosis, are uncommon mesenchymal neoplasms with a fibrotic bandlike consistency [1]. These are locally aggressive tumors without potential for distant metastases. Local recurrence and adjacent organ involvement are important causes of morbidity and mortality. The incidence of desmoid tumors in the general population is 2 4 cases per million per year, with a slight female preponderance and peak incidence in the third and fourth decades [2]. These tumors are more aggressive in younger patients, with recurrence rates up to 87% [3]. Desmoids present as a firm mass, particularly when extraabdominal. The firm consistency can make penetration of tumor difficult during imaging-guided biopsy [4]. Desmoids have spiculated infiltrative margins and are typically adherent to adjacent structures. Microscopically, they consist of poorly defined fascicles of uniform spindle cells and fibroblasts in dense collagen stroma. Mitotic activity is low, and necrosis is rare [2, 4]. This article will summarize the features of desmoids that radiologists should be aware of, specifically the common locations, complications, and treatment-related changes. Risk Factors The association of abdominal and extraabdominal desmoids with familial adenomatous polyposis (FP) (Fig. 1) and Gardner syndrome (Fig. 2) is well established [5]. Trauma, prior surgery, pregnancy (Fig. 3), and oral contraceptive use are other risk factors [1, 6]. Estrogen has been implicated as a growth factor for desmoids [1]. Location Desmoid tumors can be intraabdominal (Figs. 1 3), within the abdominal wall (Fig. 4), or extraabdominal (Figs. 5 10). In various studies, 28 69% of desmoids were intraabdominal (mesenteric or pelvic) or abdominal wall, and the remaining were extraabdominal [7]. Desmoids associated with FP and Gardner syndrome are typically intraabdominal, usually located in the smallbowel mesentery (Figs. 1 3). Pregnancy-associated desmoids tend to arise within the rectus abdominis or internal oblique muscles [1] (Fig. 4). Extraabdominal desmoids are intimately associated with muscle and fascia, with the most common locations being the shoulder and upper extremity (33%) (Figs. 5 and 6), gluteal region and lower extremity (30%) (Figs. 7 and 8), chest wall or back (17%) (Fig. 9), and head and neck (10%) [1, 2, 4]. Isolated cases of breast desmoids have been reported [8] (Fig. 10). Multiple desmoid tumors are seen in 15% of cases [1]. Imaging Features lthough use of radiography, bone scintigraphy, and ultrasound for imaging of desmoid tumors has been described, in practice, the imaging of desmoids relies mainly on CT and MRI. On ultrasound, desmoid tumors appear W1008 JR:197, December 2011

2 Imaging of Desmoid Tumors Downloaded from by on 11/27/17 from IP address Copyright RRS. For personal use only; all rights reserved as hypoechoic soft tissue masses with variable vascularity [4] (Fig. 11). CT shows a softtissue mass of variable attenuation and enhancement [4] (Figs. 2 4 and 10). Margins may be indistinct because of infiltration of adjacent structures. Heterogeneous attenuation may be seen because of necrosis or degeneration (Figs. 3 and 4). MRI, with its excellent soft-tissue contrast, is best suited for optimum evaluation of extraabdominal desmoids because it allows accurate depiction of their relationship with adjacent structures [4]. Desmoids may have heterogeneous signal and inhomogeneous enhancement because of variable distribution of spindle cells, collagen, and myxoid matrix (Figs. 7 9). On T2-weighted and proton density images, signal intensity is usually intermediate, between skeletal muscles and subcutaneous fat (Figs. 5 9), at times with the presence of hypointense bands corresponding to collagen bundles [9]. Over time, they become more hypointense because of increasing collagen deposition and decreasing cellularity (Fig. 7), whereas recurrent or actively growing desmoids tend to have a higher T2 signal, probably because of higher cellularity (Fig. 7) [10]. On 18 F-FDG-PET/ CT, the median maximum standardized uptake value of desmoid tumors has been reported to be 4.1 (range, ) [11]. The differential diagnosis of desmoid tumors includes other neoplasms, such as lymphoma, pleomorphic sarcoma, fibrosarcoma, and giant cell tumor of the tendon sheath [1]. lthough the imaging appearance may be suggestive, histopathologic confirmation must be obtained in all cases before definitive treatment. Complications Complications of desmoid tumors result from their locally aggressive nature, leading to compression and invasion of adjacent structures. Intraabdominal desmoids, especially those associated with FP or Gardner syndrome, are more infiltrative and may cause intestinal (Fig. 12) or ureteral obstruction or encase the mesenteric vessels [2, 12] (Fig. 2). Non-FP-associated desmoids, in our experience, have smooth margins and are less likely to be infiltrative (Fig. 13). Pelvic desmoids can infiltrate the urinary bladder (Fig. 14) or may cause hydrosalpinx (Fig. 12). Extraabdominal desmoids may encase and compress adjacent structures, including vessels or nerves. Chest wall desmoids can invade the pleura (Fig. 5). Desmoids rarely undergo abscess formation (Fig. 12), which may require surgical intervention or percutaneous drainage. Large desmoid tumors may undergo mucoid or cystic degeneration. Treatment Options multidisciplinary approach tailored to the individual patient is required for optimum management of desmoids. Stable asymptomatic desmoids can be observed [13] (Fig. 15). Treatment is necessary for symptomatic desmoids, especially those with mass effect on critical structures. Treatment choice is dictated by anatomic considerations. If feasible, surgical resection with a wide margin is the conventional treatment of choice for symptomatic desmoids [2]. However, recurrence is common (19 77%) (Fig. 7) and more frequent with extraabdominal desmoids (30 50%) than intraabdominal desmoids (15 30%) [1, 4]. Often, resection is not possible because of close association with vital structures, in which cases, systemic therapy with or without surgical excision should be considered [2] (Fig. 2). This is more commonly seen with FP- or Gardner-associated mesenteric desmoids, which are often unresectable or lead to significant morbidity, including perioperative hemorrhage, short-bowel syndrome, intestinal ischemia, obstruction, or fistula formation [12]. Therefore, conservative management has been recommended in such cases whenever possible, using analgesia and minimally invasive therapy as needed [12]. Recently, there has been an increasing shift toward conservative management of desmoids [12, 13]. Nonsurgical treatment options include radiation and systemic therapy. Radiation has been reported to be comparable to surgery and is also useful as an adjuvant treatment to reduce the risk of local recurrence [14] (Fig. 16). Systemic treatment options include cytotoxic agents, such as anthracyclines (Fig. 2); molecular targeted agents, such as imatinib; interferon; and antiestrogen hormonal therapy, such as tamoxifen [2, 11, 7]. mong systemic agents, a higher radiologic response rate has been reported with anthracyclines and antiestrogen treatment [7]. In some cases, after treatment, the size of the desmoid tumors may remain unchanged, but there may be a decrease in signal intensity and enhancement of the desmoids (Fig. 8). Role of Imaging in Desmoid Tumors Initial imaging in desmoids is usually performed to determine the extent, local mass effects, and potential resectability. Desmoids being observed or managed nonoperatively should undergo periodic imaging assessment, especially if intraabdominal. MRI may have prognostic value because higher T2 signal is reportedly associated with more rapid growth [15]. Given the potential for recurrence, regular clinical and possible imaging follow-up have been recommended after therapy, initially every 3 6 months [12, 16]. Patients undergoing chemoradiation undergo 6- to 12-week imaging follow-up. Desmoids being observed are initially followed-up with imaging at a 3- to 6-month interval. The imaging interval is then adjusted depending on the rate of growth and presence of symptoms. t our institution, MRI is usually preferred for pre- and postoperative evaluation of patients undergoing surgery, and whenever possible, we prefer the use of gadolinium for better delineation of the extent of desmoids. Conclusion Desmoid tumors are a challenging clinical condition with locally aggressive behavior and a strong tendency for recurrence. lthough the imaging appearance may be suggestive, histopathologic confirmation is necessary before treatment. Management options include observation, surgical resection, radiotherapy, conventional chemotherapy, hormonal agents, and newer molecular targeted agents. multidisciplinary approach tailored to the individual patient is usually needed, depending on the location, local effects, and clinical course. References 1. Dinauer P, rixey CJ, Moncur JT, Fanburg- Smith JC, Murphey MD. Pathologic and MR imaging features of benign fibrous soft-tissue tumors in adults. RadioGraphics 2007; 27: Shields CJ, Winter DC, Kirwan WO, Redmond HP. Desmoid tumours. Eur J Surg Oncol 2001; 27: Romero J, Kim EE, Kim CG, Chung WK, Isiklar I. Different biologic features of desmoid tumors in adult and juvenile patients: MR demonstration. J Comput ssist Tomogr 1995; 19: Murphey MD, Ruble CM, Tyszko SM, Zbojniewicz M, Potter K, Miettinen M. From the archives of the FIP: musculoskeletal fibromatoses radiologic-pathologic correlation. RadioGraphics 2009; 29: Lindor NM, Greene MH. The concise handbook of family cancer syndromes: Mayo Familial Cancer Program. J. Natl. Cancer Inst. 1998; 90: Häyry P, Reitamo JJ, Tötterman S, Hopfner-Hallikainen D, Sivula. The desmoid tumor. II. JR:197, December 2011 W1009

Shinagare et al. Downloaded from www.ajronline.org by 46.3.193.113 on 11/27/17 from IP address 46.3.193.113. Copyright RRS. For personal use only; all rights reserved Fig.

3 27-year-old woman with pregnancyassociated mesenteric desmoid. Mass, which presented during second trimester of pregnancy, was initially thought to be of ovarian origin.

It was biopsied, and histopathology showed it to be desmoid.

nalysis of factors possibly contributing to the etiology and growth behavior. m J Clin Pathol 1982; 77:674 680 7. de Camargo VP, Keohan ML, D damo DR, et al.

3 Shinagare et al. Downloaded from by on 11/27/17 from IP address Copyright RRS. For personal use only; all rights reserved Fig year-old woman with familial adenomatous polyposis syndrome. T2-weighted MR image in coronal plane shows large mesenteric mass (arrow) that was proven to be desmoid tumor on histopathology. Fig year-old woman with pregnancyassociated mesenteric desmoid. Mass, which presented during second trimester of pregnancy, was initially thought to be of ovarian origin. During exploration at time of cesarean delivery, mass was found to be of mesenteric origin and unresectable because it was adherent to superior mesenteric vessels. It was biopsied, and histopathology showed it to be desmoid. xial image from contrast-enhanced CT performed postpartum shows large mesenteric mass (arrowheads) that is intimately associated with mesenteric vessels (arrow). nalysis of factors possibly contributing to the etiology and growth behavior. m J Clin Pathol 1982; 77: de Camargo VP, Keohan ML, D damo DR, et al. Clinical outcomes of systemic therapy for patients with deep fibromatosis (desmoid tumor). Cancer 2010; 116: Okamoto K, Kurihara Y, Imamura K, et al. Desmoid tumor of the breast: the role of proton magnetic resonance spectroscopy for a benign breast lesion mimicking a malignancy. reast J 2008; 14: Kransdorf MJ, Jelinek JS, Moser RP, et al. Magnetic resonance appearance of fibromatosis: a report of 14 cases and review of the literature. Skeletal Radiol 1990; 19: Vandevenne JE, De Schepper M, De euckeleer L, et al. New concepts in understanding evolution of desmoid tumors: MR imaging of 30 lesions. Eur Radiol 1997; 7: Kasper, Dimitrakopoulou-Strauss, Strauss LG, Hohenberger P. Positron emission tomography in patients with aggressive fibromatosis/desmoid tumours undergoing therapy with imatinib. Eur J Nucl Med Mol Imaging 2010; 37: Sturt NJ, Clark SK. Current ideas in desmoid tumours. Fam Cancer 2006; 5: ; discussion, Fiore M, Rimareix F, Mariani L, et al. Desmoidtype fibromatosis: a front-line conservative ap- proach to select patients for surgical treatment. nn Surg Oncol 2009; 16: Nuyttens JJ, Rust PF, Thomas CR, Turrisi T. Surgery versus radiation therapy for patients with aggressive fibromatosis or desmoid tumors: a comparative review of 22 articles. Cancer 2000; 88: Healy JC, Reznek RH, Clark SK, Phillips RK, rmstrong P. MR appearances of desmoid tumors in familial adenomatous polyposis. JR 1997; 169: National Comprehensive Cancer Network Website. NCCN clinical practice guidelines in oncology. f_guidelines.asp. ccessed November 26, 2010 Fig year-old man with Gardner syndrome and large mesenteric desmoid., Coronal contrast-enhanced CT image shows large homogeneous mesenteric desmoid tumor (thick arrow). Note infiltrative margins of mass (curved arrow). Desmoid is intimately associated with mesenteric artery (thin arrow). On axial images (not shown), mesenteric vessels could be seen branching within mass. Close association with mesenteric vessels made surgical resection difficult. Hence, patient was treated with doxorubicin., xial contrast-enhanced CT image after 3 months of treatment with doxorubicin shows marked decrease in size of desmoid (thick arrow). Mesenteric vessels can be seen separate from mass (thin arrow). Desmoid was then successfully resected. W1010 JR:197, December 2011

Imaging of Desmoid Tumors Fig. 4 29-year-old woman with Gardner syndrome with abdominal wall and mesenteric desmoids.

mesenteric desmoid (arrowhead). Ill-defined soft tissue is also noted surrounding mesenteric vessels (curved arrow). Downloaded from www.ajronline.

5 28-year-old woman with large mass in left shoulder region.

This was proven to be desmoid on histopathology.

Note nodular protrusion from mass medially toward pleura (curved arrow), raising concern for pleural invasion.

pleural invasion (curved arrow). Fig. 6 43-year-old woman with desmoid tumor of left arm.

4 Imaging of Desmoid Tumors Fig year-old woman with Gardner syndrome with abdominal wall and mesenteric desmoids. xial contrast-enhanced CT image shows large somewhat low-attenuation desmoid arising within right rectus muscle (straight arrow) and another smaller mesenteric desmoid (arrowhead). Ill-defined soft tissue is also noted surrounding mesenteric vessels (curved arrow). Downloaded from by on 11/27/17 from IP address Copyright RRS. For personal use only; all rights reserved Fig year-old woman with large mass in left shoulder region., T1-weighted MR image in coronal plane shows large homogeneous mass in left shoulder region (arrows) that is isointense to skeletal muscle. This was proven to be desmoid on histopathology., T2-weighted fat-suppressed MR image in coronal plane shows intermediate signal of desmoid (straight arrows). Note nodular protrusion from mass medially toward pleura (curved arrow), raising concern for pleural invasion. C, T1-weighted fat-suppressed gadolinium-enhanced MR image in axial plane shows homogeneously enhancing mass (straight arrows) and better delineates pleural invasion (curved arrow). Fig year-old woman with desmoid tumor of left arm., Proton density MR image in axial plane shows mass involving left deltoid muscle (straight arrows). Note that signal intensity of mass is between low signal of preserved deltoid muscle (curved arrow) and high signal of subcutaneous fat (black dot)., T1-weighted fat-suppressed gadolinium-enhanced MR image in coronal plane shows moderate homogeneous enhancement of mass (straight arrows). Note subcutaneous stranding, and overlying skin thickening and retraction (curved arrow), which may represent reactive changes or extension of desmoid tumor. C JR:197, December 2011 W1011

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, T2-weighted MR image in axial plane shows mass deep in relation to gluteus maximus muscle (thick arrows) that is iso- to hypointense to muscle.

Proton density image in axial plane shows heterogeneous recurrent mass with predominantly intermediate signal intensity (arrows).

, T1-weighted fat-suppressed gadolinium-enhanced MR image in coronal plane shows heterogeneous mass in left thigh (arrowheads) with heterogeneous enhancement in

, Coronal T1-weighted fat-suppressed gadoliniumenhanced image from follow-up MRI performed after 9 months of doxorubicin treatment shows minimal decrease in size

lso note decreased signal intensity of desmoid, which indicates treatment response as well.

5 Shinagare et al. Downloaded from by on 11/27/17 from IP address Copyright RRS. For personal use only; all rights reserved Fig year-old man with left gluteal desmoid tumor., T2-weighted MR image in axial plane shows mass deep in relation to gluteus maximus muscle (thick arrows) that is iso- to hypointense to muscle. Note hypointense areas within mass (thin arrow). Patient underwent resection of this desmoid., MRI was performed 4 years after surgical resection. Proton density image in axial plane shows heterogeneous recurrent mass with predominantly intermediate signal intensity (arrows). Note atrophy of overlying gluteus maximus muscle (arrowhead). Fig year-old woman with thigh desmoid., T1-weighted fat-suppressed gadolinium-enhanced MR image in coronal plane shows heterogeneous mass in left thigh (arrowheads) with heterogeneous enhancement in its superior portion., Coronal T1-weighted fat-suppressed gadoliniumenhanced image from follow-up MRI performed after 9 months of doxorubicin treatment shows minimal decrease in size of desmoid (arrowheads); however, moderate decrease in degree of enhancement is noted, indicating response to treatment. lso note decreased signal intensity of desmoid, which indicates treatment response as well. This patient also had calf desmoid (not shown) that showed similar posttreatment changes. Fig year-old man with posterior chest wall desmoid., xial proton density MR image shows infiltrative heterogeneous mass in posterior chest wall that has superficial moderate signal component (arrow) and deeper linear low-signal component (arrowhead)., xial T1-weighted fat-suppressed gadoliniumenhanced MR image shows heterogeneous enhancement. Superficial component that had moderate T2-signal intensity shows higher enhancement (arrow), and deeper T2-hypointense component shows less enhancement (arrowhead). W1012 JR:197, December 2011

Imaging of Desmoid Tumors Downloaded from www.ajronline.org by 46.3.193.113 on 11/27/17 from IP address 46.3.193.113. Copyright RRS.

Ultrasound image in transverse plane shows heterogeneous hypoechoic mass (arrowheads) showing low-grade vascularity on color Doppler imaging (square). Fig.

, Contrast-enhanced CT image in coronal plane shows low-attenuation mass in right breast (arrow), causing mass effect on inferior surface of right breast implant.

, Coronal T1-weighted fat-suppressed gadoliniumenhanced subtracted MR image shows enhancing mass (arrow). reast implant is again noted (arrowhead). Fig.

, Coronal image from contrast-enhanced CT obtained during episode of acute abdominal pain and vomiting shows mildly enhancing low-attenuation mass in left hemiabdomen

xial contrast-enhanced CT image shows large pelvic desmoid with central low-attenuation necrotic area (straight arrow).

6 Imaging of Desmoid Tumors Downloaded from by on 11/27/17 from IP address Copyright RRS. For personal use only; all rights reserved Fig year-old woman with desmoid tumor of right rectus sheath. Ultrasound image in transverse plane shows heterogeneous hypoechoic mass (arrowheads) showing low-grade vascularity on color Doppler imaging (square). Fig year-old woman with resected right breast cancer who has breast desmoid. Note bilateral breast implants (arrowheads)., Contrast-enhanced CT image in coronal plane shows low-attenuation mass in right breast (arrow), causing mass effect on inferior surface of right breast implant. Note tail of mass insinuating between costal cartilages (curved arrow)., Coronal T1-weighted fat-suppressed gadoliniumenhanced subtracted MR image shows enhancing mass (arrow). reast implant is again noted (arrowhead). Fig year-old woman with Gardner syndrome and intraabdominal desmoid tumor, with history of multiple episodes of acute abdominal pain and vomiting., Coronal image from contrast-enhanced CT obtained during episode of acute abdominal pain and vomiting shows mildly enhancing low-attenuation mass in left hemiabdomen (arrow), causing intestinal obstruction. Note multiple dilated small-bowel loops (arrowheads)., Patient later presented with fever and abdominal pain. xial contrast-enhanced CT image shows large pelvic desmoid with central low-attenuation necrotic area (straight arrow). lso note tiny air specks within desmoid (curved arrow) suggestive of abscess formation, which was later confirmed at surgery where desmoid and few adherent bowel loops were resected. Note mildly dilated small-bowel loop (arrowhead). C, xial contrast-enhanced CT image through pelvis shows elongated low-attenuation structure with incomplete septation seen in left hemipelvis (arrows), which was proven to be hydrosalpinx caused by pelvic desmoid. Desmoid tumor is not visible on this image. C JR:197, December 2011 W1013

, xial contrast-enhanced CT image shows small mesenteric mass (straight arrow) closely associated with mesenteric vessels (curved arrow).

, xial image from follow-up contrast-enhanced CT performed after 2 years shows no significant change in size of mesenteric desmoid (arrow). Fig.

, Coronal contrast-enhanced CT image shows soft-tissue mass in right lung apex (arrow).

Coronal image from follow-up contrastenhanced CT shows markedly decreased size of desmoid (straight arrow), and postradiation changes in right lung

xial contrast-enhanced CT image shows large homogeneous low-attenuation mesenteric desmoid (arrow). Note well-defined margins of mass.

7 Shinagare et al. Downloaded from by on 11/27/17 from IP address Copyright RRS. For personal use only; all rights reserved Fig year-old woman with small mesenteric desmoid tumor., xial contrast-enhanced CT image shows small mesenteric mass (straight arrow) closely associated with mesenteric vessels (curved arrow). In view of small asymptomatic desmoid and its proximity to mesenteric vessels, this was observed without any treatment., xial image from follow-up contrast-enhanced CT performed after 2 years shows no significant change in size of mesenteric desmoid (arrow). Fig year-old woman with recurrent desmoid in right lung apex after initial surgical resection., Coronal contrast-enhanced CT image shows soft-tissue mass in right lung apex (arrow). Note postoperative changes in right upper chest wall (arrowheads)., Patient received radiation and cycles of doxorubicin. Coronal image from follow-up contrastenhanced CT shows markedly decreased size of desmoid (straight arrow), and postradiation changes in right lung apex (curved arrow). Fig year-old man with nonfamilial adenomatous polyposis associated mesenteric desmoid tumor. xial contrast-enhanced CT image shows large homogeneous low-attenuation mesenteric desmoid (arrow). Note well-defined margins of mass. Compare with infiltrative margin of Gardner syndrome associated desmoid in Figure 9. Fig year-old man with familial adenomatous polyposis associated desmoid tumor. Coronal contrast-enhanced CT image shows infiltrative mass in pelvis with invasion of urinary bladder wall (arrows) and involvement of multiple small-bowel loops (arrowheads). Patient underwent cystectomy because of severe urinary complaints. W1014 JR:197, December 2011

Case Report Desmoid Tumor of the Popliteal Fossa during Pregnancy

Case Reports in Surgery Volume 2015, Article ID 262654, 4 pages http://dx.doi.org/10.1155/2015/262654 Case Report Desmoid Tumor of the Popliteal Fossa during Pregnancy Wolfram Weschenfelder, Robert Lindner,