AJR 2002; 178:191-199
© American Roentgen Ray Society
Imaging of Desmoid Fibromatosis in Pediatric Patients
Catherine A. Kingston1,2,
Catherine M. Owens1,
Annmarie Jeanes1 and
Marian Malone3
1
Department of Radiology, Great Ormond Street Hospital, Great Ormond St.,
London, WC1N 3JH, United Kingdom.
2
Present address: Unit 5/1 D, 78 Park Terr., Christchurch 8001, New
Zealand.
3
Department of Histopathology, Great Ormond Street Hospital, London, WC1N 3JH,
United Kingdom.
Received May 29, 2001;
accepted after revision July 23, 2001.
Address correspondence to C. M. Owens.
Introduction
Infantile desmoid fibromatosis is the pediatric equivalent of adult
musculoaponeurotic desmoid fibromatosis. Tumors are typically extraabdominal.
Patients, who are predominantly male, present before the age of 8 years,
usually in the first 2 years of life. Tumors are usually solitary, arising as
a firm mass in skeletal muscle or adjacent fascia, aponeurosis, or periosteum.
Lesions most frequently occur in the head and neck and usually involve the
tongue, mandible, maxilla, or mastoids. The limb girdles, trunk, and proximal
extremities are also common sites, but intraabdominal desmoids are relatively
uncommon in childhood [1].
In this pictorial essay, we review the imaging appearances of this entity,
especially with regard to CT and MR imaging, to illustrate local complications
and to document changes in tumor appearance in response to therapy.
Histology
Macroscopic Appearance
Tumors are generally unicentric, firm, nonencapsulated, poorly defined
masses of grey—white tissue measuring 1-10 cm in maximum diameter
[1]
(Fig. 1A).
View larger version (76K):
[in this window]
[in a new window]
[as a PowerPoint slide]
|
Fig. 1A. —Pathologic appearance of infantile desmoid fibromatosis in
5-year-old boy. Photograph of cut surface of excised specimen shows
well-circumscribed tumor mass in thigh muscle. Note uniform dense white tumor
tissue (asterisk), typical of desmoid fibromatosis.
|
|
Microscopic Appearance
Tumors are benign infiltrating proliferations of fibroblasts and
myofibroblasts that lack nuclear or cytoplasmic features of malignancy and
have no metastatic potential. Lesions are poorly circumscribed and tend to
infiltrate adjacent muscle and to encase or compress neurovascular structures
[1].
The morphologic spectrum mirrors stages in the differentiation of
fibroblasts. Tumors may be composed of immature mesenchymal cells or more
mature fibroblasts arranged in bundles of fascicles with varying amounts of
collagen (Fig. 1B). Very
cellular lesions may be difficult to distinguish from infantile fibrosarcoma
[1].
View larger version (157K):
[in this window]
[in a new window]
[as a PowerPoint slide]
|
Fig. 1B. —Pathologic appearance of infantile desmoid fibromatosis in
5-year-old boy. Photomicrograph of histopathology specimen shows interlacing
bands of fibrous tissue in aggressive, invasive tumor that is largely cellular
with high mitotic rate. (H and E, x40)
|
|
Imaging
Imaging is important to define the number, location, margins, and
enhancement patterns of tumors and to assess infiltration or encasement of
adjacent structures. Imaging helps in determining the possibility of surgical
resection and in deciding whether adjuvant therapy is necessary. Desmoids may
appear as nodular, rounded, or oval masses with well-defined margins
(Fig. 2A) or as more
infiltrative, permeative lesions with indistinct borders
(Fig. 2B) extending to encase
adjacent neurovascular structures and bone
[1,
2].
View larger version (93K):
[in this window]
[in a new window]
[as a PowerPoint slide]
|
Fig. 2A. —Differing appearances of infantile desmoid fibromatosis in
11-year-old boy with multiple lesions. Axial T1-weighted spin-echo MR image
(TR/TE, 680/17) of right anterior chest wall shows nodular oval soft-tissue
mass with defined margins (arrows).
|
|
View larger version (138K):
[in this window]
[in a new window]
[as a PowerPoint slide]
|
Fig. 2B. —Differing appearances of infantile desmoid fibromatosis in
11-year-old boy with multiple lesions. Axial T1-weighted spin-echo MR image
(680/17) of left paraspinal muscles shows a more infiltrative, permeative
lesion with indistinct margins (arrows).
|
|
Many imaging techniques can be used to assess infantile desmoid
fibromatosis. MR imaging is the technique of choice for extremity lesions.
Radiography
Radiographs usually show a poorly defined mass or soft-tissue swelling,
giving a rough estimate of tumor size and location. Lesions may cause local
erosion, periosteal reaction, deformation, or bowing of bone
[1]
(Fig. 3A).
Sonography
Sonographic appearances are nonspecific. The solid lesions frequently
appear homogeneous and hypoechoic, although some tumors may be heterogenous
and of variable echogenicity
[3]. Biopsy of superficial
lesions can be performed under sonographic guidance.
CT
Unenhanced CT and contrast-enhanced CT provide reliable information
regarding anatomic relationships and tumor extent, although the margins of
some lesions may be poorly defined
[4]. The CT appearance of
infantile desmoid fibromatosis is variable and nonspecific
[3]. With respect to skeletal
muscle, most tumors are of attenuation similar to that of muscle
(Fig. 4A) or slightly
increased (Fig. 5A), although
some may be hypodense. Lesions usually become more conspicuous after the
injection of iodinated contrast material, but the degree of enhancement varies
[4]. Most lesions show
heterogeneous uptake of contrast material, whereas others show diffuse
homogeneous enhancement (Fig.
4B), and some show relatively little change
[4]
(Fig. 6). Contrast enhancement
is useful in assessing the relationship of the tumor to major vessels
(Fig. 3B). If vessel integrity
is questioned, invasive imaging techniques such as angiography may be required
(Figs. 3C and
3D). CT using bone window
settings allows more accurate assessment of bone involvement and destruction
than does conventional radiography of MR imaging
(Fig. 5B). Biopsy of deep
lesions can be performed under CT guidance. No consistent relationship has
been found between the CT appearance of desmoid tumors and their histology
[4].
View larger version (136K):
[in this window]
[in a new window]
[as a PowerPoint slide]
|
Fig. 5A. —Left nasomaxillary infantile desmoid fibromatosis in
8-year-old boy who initially presented when 11 months old. Axial unenhanced CT
scan shows that left maxillary lesion (asterisk) is of slightly
increased attenuation in comparison with adjacent muscles.
|
|
View larger version (139K):
[in this window]
[in a new window]
[as a PowerPoint slide]
|
Fig. 6. —9-year-old boy with recurrent desmoid tumor in left chest
wall. Axial contrast-enhanced CT scan shows minimal enhancement of large mass
(asterisk). Mass is heterogeneous: some areas are of similar
attenuation to muscle and other areas are hypodense. Patient has undergone
previous partial left pneumonectomy for intrathoracic disease. Note rib
erosion and spiculated periosteal reaction (arrows).
|
|
View larger version (140K):
[in this window]
[in a new window]
[as a PowerPoint slide]
|
Fig. 3B. —Desmoid tumor of right submandibular region in 18-year-old
man who initially presented when 8 months old. Axial contrast-enhanced CT scan
shows narrowing and deviation of trachea (open arrow). Right
neurovascular bundle (solid arrows) is displaced
posterolaterally.
|
|
View larger version (61K):
[in this window]
[in a new window]
[as a PowerPoint slide]
|
Fig. 3C. —Desmoid tumor of right submandibular region in 18-year-old
man who initially presented when 8 months old. Bilateral carotid angiograms
show that right external carotid artery has been compressed and occluded by
tumor (arrow, C) and normal left external carotid artery
(arrow, D).
|
|
View larger version (61K):
[in this window]
[in a new window]
[as a PowerPoint slide]
|
Fig. 3D. —Desmoid tumor of right submandibular region in 18-year-old
man who initially presented when 8 months old. Bilateral carotid angiograms
show that right external carotid artery has been compressed and occluded by
tumor (arrow, C) and normal left external carotid artery
(arrow, D).
|
|
View larger version (138K):
[in this window]
[in a new window]
[as a PowerPoint slide]
|
Fig. 5B. —Left nasomaxillary infantile desmoid fibromatosis in
8-year-old boy who initially presented when 11 months old. Axial unenhanced CT
scan shows that bone window settings allow more accurate assessment of bony
destruction by tumor (arrows).
|
|
MR Imaging
The superior soft-tissue contrast of MR imaging, its multiplanar
capabilities, and its lack of beam-hardening artifacts allow accurate tumor
delineation and a greater appreciation of infiltration of adjacent structures
than does CT. Lesions may be well defined and nodular, or infiltrative and ill
defined [2]. The variable MR
imaging signal characteristics of infantile desmoid fibromatosis reflect
differences in composition, especially cellularity, fibrous tissue content,
and the presence of myxomatous degeneration
[5,
6]. Most desmoid tumors are
heterogeneous soft-tissue lesions of intermediate signal intensity (between
those of muscle and fat) [2].
Lesions may be hypointense, isointense, or, occasionally, marginally
hyperintense with respect to muscle signal on T1-weighted images (Figs.
4C,
5C, and
7A) and of mixed predominantly
high signal (greater than that of muscle but usually less than that of fat) on
T2-weighted images [6]
(Fig. 7B). Zones of low signal
intensity are often seen on both T1- and T2-weighted images (Figs.
3E and
3F). These areas reflect
hypocellularity and abundant collagen
[5]. Tumors with high
cellularity and abundant collagen show increased signal intensity on
T2-weighted images [5]. The
difference in T2-weighted signal intensity appears to be determined by the
degree of cellularity rather than the amount of collagen present in the lesion
[5]. After the IV injection of
gadolinium, tumors may show homogeneous (Fig.
4D), inhomogeneous (Figs.
7C and
7D), or no significant
enhancement [2]. No
relationship has been shown between the pattern of enhancement and tumor
recurrence [2].
View larger version (100K):
[in this window]
[in a new window]
[as a PowerPoint slide]
|
Fig. 5C. —Left nasomaxillary infantile desmoid fibromatosis in
8-year-old boy who initially presented when 11 months old. Coronal T1-weighted
spin-echo MR image (TR/TE, 670/15) shows that tumor (asterisk) is
isointense to muscle and occupies most of left nasomaxillary region. This
lesion regressed with chemotherapy.
|
|
View larger version (119K):
[in this window]
[in a new window]
[as a PowerPoint slide]
|
Fig. 7A. —Infantile desmoid fibromatosis of right parotid gland in
4-year-old girl who presented when 2 years old. Coronal T1-weighted spin-echo
MR image (TR/TE, 608/14) shows right parotid lesion is of mixed signal
intensity. Most of tumor is isointense with muscle, although some parts are
hyperintense (short arrow) and other regions are hypointense
(long arrow).
|
|
View larger version (117K):
[in this window]
[in a new window]
[as a PowerPoint slide]
|
Fig. 7B. —Infantile desmoid fibromatosis of right parotid gland in
4-year-old girl who presented when 2 years old. Coronal T2-weighted spin-echo
MR image (4000/95) shows lesion is also of heterogeneous signal intensity;
although most of tumor is of increased signal intensity (short
arrow), some low-signal-intensity areas (long arrow) are
seen.
|
|
View larger version (162K):
[in this window]
[in a new window]
[as a PowerPoint slide]
|
Fig. 3E. —Desmoid tumor of right submandibular region in 18-year-old
man who initially presented when 8 months old. Axial T1-weighted spin-echo MR
image (TR/TE, 670/15) of tumor recurrence shows lesion with mixed signal
intensity; most of tumor is isointense with muscle. Note focal areas of low
signal intensity (arrows).
|
|
View larger version (147K):
[in this window]
[in a new window]
[as a PowerPoint slide]
|
Fig. 3F. —Desmoid tumor of right submandibular region in 18-year-old
man who initially presented when 8 months old. Axial T2-weighted spin-echo MR
image (7500/90) of tumor recurrence shows lesion with mixed signal intensity.
Zones of low signal intensity (thin arrows) on both T1-and
T2-weighted images reflect areas of hypocellularity and abundant collagen.
Areas with high cellularity and abundant collagen (thick arrows) show
increased signal intensity on T2-weighted images.
|
|
View larger version (126K):
[in this window]
[in a new window]
[as a PowerPoint slide]
|
Fig. 4D. —1-year-old girl with infantile desmoid fibromatosis of left
cheek. Gadolinium-enhanced coronal T1-weighted spin-echo MR image (700/20)
shows homogeneous tumor enhancement (arrows). Cellular component and
vascularity of lesion determine degree of contrast enhancement.
|
|
View larger version (126K):
[in this window]
[in a new window]
[as a PowerPoint slide]
|
Fig. 7C. —Infantile desmoid fibromatosis of right parotid gland in
4-year-old girl who presented when 2 years old. Gadolinium-enhanced coronal
T1-weighted spin-echo MR image (700/20) shows inhomogeneous enhancement of
tumor (arrows).
|
|
View larger version (131K):
[in this window]
[in a new window]
[as a PowerPoint slide]
|
Fig. 7D. —Infantile desmoid fibromatosis of right parotid gland in
4-year-old girl who presented when 2 years old. Axial T1-weighted spin-echo MR
image (700/20) shows inhomogeneously enhancing tumor enlarging right parotid
gland (asterisk).
|
|
Complications
Despite benign histopathology, lesions often show insidious growth and
aggressive characteristics. Tumors infiltrate adjacent tissues and encase or
compress neurovascular structures (Figs.
3G and
8A). Nerve involvement may
cause sensory or motor disturbance and pain in the extremity. Severe
neurovascular compromise may necessitate amputation of the affected limb
[1,
7]. Invasion of a joint capsule
or adjacent ligaments can cause contractures
[1]. Compromise of the airway
is common in neck tumors (Figs.
3H and
8B). Death can result from
local effects.
View larger version (124K):
[in this window]
[in a new window]
[as a PowerPoint slide]
|
Fig. 3G. —Desmoid tumor of right submandibular region in 18-year-old
man who initially presented when 8 months old. Axial T1-weighted spin-echo MR
image (700/20) shows continued enhancement of posterior portion of tumor
(asterisk) after gadolinium injection. Right neck mass recurred after
surgical excision of tumor and mandibular ramus. Anterior portion of tumor has
regressed and shows low signal intensity, consistent with increased fibrous
tissue content (long arrow). Note hemiatrophy and fibrosis of tongue
(short arrows) due to hypoglossal nerve involvement.
|
|
View larger version (122K):
[in this window]
[in a new window]
[as a PowerPoint slide]
|
Fig. 8A. —6-year-old boy with large desmoid tumor in neck. Patient died
from complications arising from this tumor. Axial T2-weighted spin-echo MR
image (TR/TE, 4700/112) shows lesion of heterogenous signal intensity with
both low- and high-signal-intensity areas. Note vascular encasement
(arrowhead) and tracheal compression (arrow) that required
tracheostomy.
|
|
View larger version (123K):
[in this window]
[in a new window]
[as a PowerPoint slide]
|
Fig. 3H. —Desmoid tumor of right submandibular region in 18-year-old
man who initially presented when 8 months old. Coronal T2-weighted inversion
recovery MR image shows mixed signal intensity of tumor and deviation of
trachea (arrows).
|
|
View larger version (146K):
[in this window]
[in a new window]
[as a PowerPoint slide]
|
Fig. 8B. —6-year-old boy with large desmoid tumor in neck. Patient died
from complications arising from this tumor. Gadolinium-enhanced coronal
T1-weighted spin-echo MR image (670/15) shows relatively homogeneous
enhancement of tumor. Left common carotid artery deviates around mass
(curved arrows). Tracheostomy tube (straight arrow) is also
seen.
|
|
Treatment
Desmoid tumors are of an unknown etiology and have a poorly understood
natural history. Separate lesions in the same patient may behave differently,
one growing rapidly while another regresses. Tumors usually show slow, locally
invasive growth, although some lesions remain static. Surgical excision is the
treatment of choice for extremity tumors
[7]. A large rim of
normal-appearing tissue must also be removed because tumors infiltrate beyond
margins palpable at surgery and defined on imaging. Local recurrence rates are
high, even after apparent complete surgical excision
[7]
(Fig. 9). Pediatric desmoid
lesions are more infiltrative than adult tumors, tending to recur at an
earlier stage and with more frequency; multiple recurrences after treatment
are common [2]. Approximately
60% of pediatric desmoid tumors recur
[3].
View larger version (120K):
[in this window]
[in a new window]
[as a PowerPoint slide]
|
Fig. 9. —Right maxillary desmoid fibromatosis in 4-year-old boy who
presented when 2 years old. Axial unenhanced CT scan (bone window settings)
shows recurrent tumor (arrow) after previous surgical removal of part
of right maxilla.
|
|
Primary and adjuvant radiotherapy may improve local control when resection
is impossible [7]. Cytotoxic
chemotherapy is used for inoperable progressive lesions in children in whom
surgery or radiotherapy would cause morbidity
[8]. Skapek et al.
[8] describe safe and effective
chemotherapy regimes with little acute toxicity or late effects. Chemotherapy
prevented tumor progression and in some cases caused complete regression
without recurrence.
Changes in Lesion Appearance in Response to Therapy
Response to therapy can be evaluated using serial imaging to assess
variation in tumor size. A decrease in tumor mass is considered partial
response (Figs. 7D and
7E), and resolution of the
mass is complete response. In stable disease, the lesion maintains the same
size and MR imaging characteristics
[8]. Skapek et al.
[8] found that tumors of
patients treated with chemotherapy before surgery became hypocellular, with an
increased collagen content. Histologic changes were accompanied by an MR
imaging signal change, with more regions of low signal intensity on both T1-
and T2- weighted sequences (Figs.
3G and
3I) reflecting increased
collagen content and fibrosis and decreased cellularity. A corresponding
decrease in areas of high signal intensity on T2-weighted sequences may also
be apparent.
View larger version (134K):
[in this window]
[in a new window]
[as a PowerPoint slide]
|
Fig. 7E. —Infantile desmoid fibromatosis of right parotid gland in
4-year-old girl who presented when 2 years old. Axial T1-weighted spin-echo MR
image (700/20) 1 year later shows good response of tumor (asterisk)
to therapy.
|
|
View larger version (109K):
[in this window]
[in a new window]
[as a PowerPoint slide]
|
Fig. 3I. —Desmoid tumor of right submandibular region in 18-year-old
man who initially presented when 8 months old. Coronal T1-weighted spin-echo
MR image (600/15) shows changes in signal with response to therapy (compare
with E), especially an increase in low-signal-intensity fibrotic areas
and shrinkage of anterior portion of tumor. Right neck mass had recurred after
surgical excision of tumor and mandibular ramus. Radiotherapy and various
chemotherapy regimes resulted in slow tumor regression. Tongue hemiatrophy
(arrows) can also be seen.
|
|
References
-
Enzinger FM, Weiss SW. Fibrous proliferations of infancy and
childhood. In: Enzinger FM, Weiss SW, eds. Soft-tissue
tumors, 3rd ed. St. Louis: Mosby, 1995:231
-268
-
Romero JA, Kim EE, Kim CG, Chung WK, Isiklar I. Different biologic
features of desmoid tumors in adults and juvenile patients: MR demonstration.
J Comput Assist Tomogr
1995;19:782
-787[Medline]
-
Eich GF, Hoeffel JC, Tschappeler H, Gassner I, Willi UV. Fibrous
tumors in children: imaging features of a heterogeneous group of disorders.
Pediatr Radiol
1998;28:500
-509[Medline]
-
Francis IR, Dorovini-Zis K, Glazer GM, Lloyd RV, Amendola MA,
Martel W. The fibromatoses: CT—pathologic correlation.
AJR
1986;147:1063
-1066[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
1987;148:1247
-1250[Abstract/Free Full Text]
-
Quinn SF, Erickson SJ, Dee PM, et al. MR imaging in fibromatosis:
results in 26 patients with pathologic correlation.
AJR
1991;156:539
-542[Abstract/Free Full Text]
-
Lewis JJ, Boland PJ, Leung DHY, Woodruff JM, Brennan MF. The enigma
of desmoid tumors. Ann Surg
1999;229:866
-873[Medline]
-
Skapek SX, Hawk BJ, Hoffer FA, et al. Combination chemotherapy
using vinblastine and methotrexate for the treatment of progressive desmoid
tumor in children. J Clin Oncol
1998; 16:3021
-3027[Abstract/Free Full Text]
CiteULike 
Complore 
Connotea 
Del.icio.us 
Digg 
Reddit 
Technorati What's this?
This article has been cited by other articles:
|
|
|
|
 
E. E. Laffan, B.-Y. Ngan, and O. M. Navarro
Pediatric Soft-Tissue Tumors and Pseudotumors: MR Imaging Features with Pathologic Correlation: Part 2. Tumors of Fibroblastic/Myofibroblastic, So-called Fibrohistiocytic, Muscular, Lymphomatous, Neurogenic, Hair Matrix, and Uncertain Origin1
RadioGraphics,
July 1, 2009;
29(4):
e36 - e36.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
E. E. Laffan, B.-Y. Ngan, and O. M. Navarro
Pediatric Soft-Tissue Tumors and Pseudotumors: MR Imaging Features with Pathologic Correlation: Part 2. Tumors of Fibroblastic/Myofibroblastic, So-called Fibrohistiocytic, Muscular, Lymphomatous, Neurogenic, Hair Matrix, and Uncertain Origin
RadioGraphics,
May 15, 2009;
(2009)
e36.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
C.-C. Huang, S.-F. Ko, M.-C. Yeh, S.-H. Ng, H.-Y. Huang, C.-C. Lee, and T.-Y. Lee
Aggressive Fibromatosis of the Chest Wall: Sonographic Appearance of the Fascial Tail and Staghorn Patterns
J. Ultrasound Med.,
March 1, 2009;
28(3):
393 - 396.
[Full Text]
[PDF]
|
|
|
|
|
|
|
M Krokidis, M Raissaki, E Mantadakis, E Giannikaki, G Velegrakis, M Kalmanti, and N Gourtsoyiannis
Infantile fibromatosis of the mandible: a case report
Dentomaxillofac. Radiol.,
March 1, 2008;
37(3):
167 - 170.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
R. E. Taggart Jr. and T. A. Kavic
Sonographic Evaluation of Fibromatosis (Aggressive Type) Using Color Doppler Interrogation
Journal of Diagnostic Medical Sonography,
July 1, 2003;
19(4):
248 - 251.
[Abstract]
[PDF]
|
|
|
|
|
|
|
S. Ehara, Y. Oda, C. Owens, A. Jeanes, and M. Malone
Infantile Fibromatosis
Am. J. Roentgenol.,
January 1, 2003;
180
(1):
284 - 284.
[Full Text]
[PDF]
|
|
|
Top
Introduction
Histology
