Pictoric review of desmoid tumors / aggressive fibromatosis of

Pictoric review of desmoid tumors / aggressive fibromatosis
of desmoid type
Poster No.:
C-1167
Congress:
ECR 2016
Type:
Educational Exhibit
Authors:
N. Almeida Costa, M. J. Magalhães, J. Abreu e Silva, D. Fonseca,
M. Afonso, H. Cunha; Porto/PT
Keywords:
Oncology, Abdomen, Pancreas, MR, MR-Functional imaging, CT,
Contrast agent-intravenous, Neoplasia, Education and training
DOI:
10.1594/ecr2016/C-1167
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Learning objectives
To review CT and MRI features of abdominal and extra-abdominal deep fibromatosis
(desmoid type fibromatosis).
Background
Introduction
Fibromatosis is a rare mesenchymal tumor characterized histologically by proliferation of
fibroblasts and myofibroblasts with marked production of intercellular collagen.
They are composed of spindle-shaped myofibroblastic cells, dense deposits of
intercellular collagen fibers, variable amounts of extracellular myxoid matrix, and
compressed and elongated vessels.
It comprises a broad group of fibrous tissue proliferations of similar histologic appearance
that has biologic behavior intermediate between that of benign fibrous lesions and
fibrosarcoma.
It is characterized by an infiltrative growth pattern and a tendency toward local recurrence,
which have led some to classify it with malignant soft-tissue neoplasms of which it
comprises
fewer than 4%. They indeed vary from benign to intermediate in biological behavior.
Intermediately aggressive lesions (locally aggressive) are characterized by infiltrative
growth and local recurrence but an inability to metastasize.
Fibromatosis are divided into two major groups: superficial (palmar, plantar) and
deep (or desmoids type) forms. (figure 1). These lesions can be categorized by
location (superficial or deep) or by the age group predominantly affected. Superficial
fibromatoses in adults (palmar and plantar) and children (calcifying aponeurotic fibroma,
lipofibromatosis, and inclusion body fibromatosis)
Deep fibromatosis /desmoid type fibromatosis
The term "desmoids tumor" (desmos in Greek means band), first used by Mueller in 1838
to emphasize the bandlike or tendonlike consistency of these lesions, is synonymous
with the deep type of fibromatosis. The WHO Committee for Classification of Soft
Tissue Tumors in 2002 designated the term desmoid type fibromatosis for this lesion
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outdating the previous terminology. This group consists of rapidly growing lesions that
often reach a large size and have a high tendency to recur after treatment, hence the
term "aggressive fibromatosis." This group principally involves the musculature of the
trunk and the extremities.
Deep fibromatosis (desmoid type fibromatosis) are divided into abdominal (abdominal
wall fibromatosis), intra or extraabdominal in location.
Desmoid type fibromatosis occurs most frequently in patients in the 2nd to 4th decades of
life, with a peak incidence between the ages of 25 to 35 years. Less than 5% of patients
are younger than 10 years of age. Women are more commonly affected than men.
Most cases are sporadic, but there is a clear association with familial adenomatous
polyposis and Gardner's syndrome, suggesting a link with mutations of the APC gene
on chromosome 5q22.
All forms of desmoid type fibromatoses are believed to have similar pathogenesis:
activation of the #-catenin signaling pathway. Activation can occur either by APC-gene
mutations (gene in the long arm of chromosome 5q21-22), usually in connection with
familial polyposis syndrome (also referred to as Gardner syndrome), or by somatic #catenin mutations. In either event, #-catenin is overexpressed, which leads to strongly
positive nuclear immunohistochemical staining.
They typically manifests as a deeply seated but poorly circumscribed soft-tissue mass.
Slow insidious growth is common, and lesions are usually painless. Additional symptoms
of decreased mobility, reduced joint motion, and neurologic complaints (numbness,
tingling, sharp pain, or motor weakness) are less frequent.
While these lesions can occur almost anywhere in the body, they have a predilection for
the upper torso including the upper arm (28%), chest wall/paraspinal (17%), and head/
neck (10% to 23%). Other less common locations include the thigh (12%), knee (7%),
buttock/hip (6%), and forearms (4%). Multicentric disease occurs in 10%-15% of cases.
Extraabdominal fibromatoses have a tendency to grow along fascial planes and can
extend a great distance from the predominant mass.
Abdominal wall fibromatosis are distinguished from the other deep musculoaponeurotic
fibromatoses because of their location and distinct predilection to develop in women of
childbearing age. In fact, 87% of these lesions occur in women, and 95% develop in
women who have had at least one child (the lesions usually occur during the first year
after childbirth). Abdominal wall desmoids arise from the musculoaponeurotic structures
of the abdominal wall, most frequently the rectus abdominis and internal oblique muscles
and their fascial coverings. Abdominal wall desmoid is the most common soft-tissue
neoplasm of the abdominal wall. Less often, these lesions originate from the external
oblique and the transversalis muscles or fascia. The etiology of these tumors is uncertain.
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Although the majority of cases are idiopathic, estrogenic hormones, trauma (including
surgery - these lesions arise following a surgical procedure in 20% of cases), and genetic
abnormalities have also been implicated as potential causative factors. The majority of
patients with abdominal wall desmoids have no history of gross injury. Minor undetected
trauma such as minute muscle tears may theoretically serve as a contributing factor to
development of these lesions in a hormonally or genetically predisposed individual.
Management
Management of deep fibromatosis is challenging because this disease does not respect
the usual surgical rules relating to resection and recurrence.
The prefered treatment is usually a wide-local excision.
Adjuvant radiation therapy following surgery has been shown to decrease the local
recurrence rate versus surgery alone. In fact various studies have suggested that
radiation therapy alone in inoperable cases achieves near equivalent local control
compared to surgery.
Additional therapies with reported positive results include radiofrequency ablation and
chemotherapy agents.
Findings and procedure details
On contrast-enhanced CT, desmoids (deep fibromatoses) generally present as nonspecific high attenuation masses with either ill- or well-defined margins. (figure 2, 3, 4)
The best imaging modality for evaluation and staging of the deep fibromatoses is MR
imaging.
Abdominal wall desmoids are solitary slow growing neoplasms that are recognized for
their progressive, locally infiltrative, and aggressive behaviour (figure 5, 6).
These lesions are usually centered in an intermuscular location with a rim of fat ("split
fat"sign), although invasion of surrounding muscle is frequent.
Linear extension along fascial planes (the fascial tail sign) is also a frequent manifestation
and is uncommon with other soft-tissue neoplasms (figure 7, 8). The fascial tail sign can
be quite prominent, extending a significant distance from the primary neoplastic focus.
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The lesions may be well defined or have irregular infiltrative margins.
The most common MR imaging appearance of desmoid type fibromatosis is intermediate
signal intensity on T1-weighted images (similar to that of muscle), and intermediate signal
intensity on T2-weighted images (lower than that of fat and higher than that of muscle
with non-fat-suppressed sequences).
However, the signal intensity of desmoid type fibromatosis is variable and usually
heterogeneous, dependent on the extent of collagen and degree of cellularity of the
lesion. (figure 9 - 16)
In fact, lesions with high fibroblast content demonstrate higher T2 signal and less cellular,
more collagenized lesions demonstrate a lower signal intensity.
Similar to palmar and plantar varieties of fibromatosis, desmoid type fibromatosis tumors
have been described as having three stages of histologic evolution over time as they
mature:
•
•
•
In the first stage, lesions are more cellular with large extracellular spaces
(which appear as decreased T1 and increased T2 MR signal intensity) and
have relatively decreased collagen content. (figure 5, 11, 12, 13, 14, 16)
In the second stage, there is an increase in the amount of collagen
deposition (which increases the heterogeneity of T2 signal) in the central
and peripheral areas of the tumor. (figure 6, 10)
In the final stage there is an increase in the fibrous composition (which
decreases the T1 and T2 MR signal intensity), with a decrease in cellularity
and decrease in the volume of the extracellular spaces and water content.
In addition, the higher signal intensity on T2-weighted MR images may be
related to myxoid components. (figure 9, 15)
Larger studies of patients have shown that the most common MR imaging appearance of
desmoid type fibromatosis is intermediate signal intensity on T1-weighted images (similar
to that of muscle), seen in 83%-95% of cases, and intermediate signal intensity on T2weighted images (lower than that of fat and higher than that of muscle with non-fatsuppressed sequences), seen in 46%-77% of cases. Fat suppressed T2-weighted MR
pulse sequences often reveal higher signal intensity within these lesions.
Altough areas of low signal intensity with all pulse sequences are characteristic
of fibromatosis, it lacks specificity, because other neoplastic processes (such as
pigmented villonodular synovitis, granular cell tumor, fibrosarcoma, and malignant fibrous
histiocytomas) may reveal similar MR imaging features.
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However, these areas of low signal intensity with bandlike morphology are common in
desmoid type fibromatosis, compared with other neoplastic lesions.
Following gadolinium administration, these collagenized bands demonstrate lack of
enhancement. The low-intensity bands correspond to the acellular collagen rich areas
which are interspersed between the highly vascularized fascicles of spindle cells. The
administration of gadolinium causes these collagen bands to stand out in relation to the
enhancing cellular areas of the neoplasm.
Additional features that aid in diagnostic specificity include an abdominal wall location
related to pregnancy (abdominal wall fibromatosis), a lower neck location in a young child
(fibromatosis colli), an adipose component (lipofibromatosis), or multiple lesions in young
children (myofibromatosis).
Prognosis
Signal intensity on long TR sequences may have an implication on tumor recurrence,
with a higher recurrence rate in lesions with high T2 signal.
In lesions undergoing radiation or drug therapy, MR surveillance has been used to assess
response to treatment with a positive response demonstrating a decrease in T2 signal,
lesion enhancement and lesion size.
Images for this section:
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Fig. 1: Schematic illustration of different types of fibromatosis.
© - Porto/PT
Fig. 5: Abdominal wall fibromatosis. MR images showing a well defined nodular lesion in
the left rectus abdominis muscle with hypointense signal on T1-wheighted images, faint
hyperintense signal on T2-weighted images and conspicuous hyperintense signal on fat
saturated sequences.
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© - Porto/PT
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Fig. 6: Abdominal wall fibromatosis. MR images showing a well defined nodular lesion
in the right rectus abdominis muscle with isointense signal to muscle on T1-wheighted
images and on T2-weighted images and avid contrast enhancement.
© - Porto/PT
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Fig. 3: Massive intraabdominal fibromatosis. Axial CT image demonstrating a large
heterogeneously enhancing intraabdominal mass.
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© - Porto/PT
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Fig. 11: Deep "active" fibromatosis of the left gluteus muscle. Axial MR images showing
an infiltrative mass in left gluteal region with heterogenous low signal intensity on T1weighted and T2-weighted images. High intensity signal areas on T2-weighted images
and avid enhancement suggest "active"/first stage disease.
© - Porto/PT
Fig. 13: Deep fibromatosis in the left deltoid muscle. MR images showing a well defined
mass with heterogenous intermediate signal intensity on T1-weighted images (isointense
to the muscle), high signal intensity on T2- weighted images and avidly enhancing. Note
the low signal intensity internal areas with bandlike morphology demonstrating lack of
enhancement (characteristic of fibromatosis).
© - Porto/PT
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Fig. 10: Intraabdominal fibromatosis (intermediate form). MR images showing a welldefined intraabdominal mass with intermediate signal on T1 weighted images, low signal
on T2 weighted images and slight contrast enhancement.
© - Porto/PT
Fig. 12: Spinalis muscle fibromatosis. MR images showing a well defined nodular lesion
in the left spinalis muscle with isointense to muscle signal on T1-wheighted images,
faint hyperintense signal on T2-weighted images with fat saturation and avid contrast
enhancement.
© - Porto/PT
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Fig. 7: Agressive fibromatosis of the left upper thigh. MR images showing an infiltrative
heterogenous lesion with areas of low signal intensity in all pulse sequences (arrows).
Following gadolinium administration these collagenized bands demonstrate lack of
enhancement.
© - Porto/PT
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Fig. 2: Abdominal wall fibromatosis. Axial CT enhanced image showing a well defined
nodular enhancing lesion in the left rectus abdominis muscle.
© - Porto/PT
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Fig. 14: Deep fibromatosis of the left deltoid. Coronal MR images showing a mass
centered in the left deltoid muscle with isointense signal on T1-wheighted images, faint
hyperintense signal on T2-weighted images and avid contrast enhancement.
© - Porto/PT
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Fig. 15: Deep fibromatosis (late stage) of the left gluteal region. MR images showing an
infiltrative mass centered in the left gluteus muscles with low signal intensity in all pulse
sequences. Following gadolinium administration it demonstrate lack of enhancement.
© - Porto/PT
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Fig. 4: Intraabdominal fibromatosis. Axial non-enhanced (a) and enhanced (b) CT images
showing a well defined, heterogeously enhancing peritoneal mass.
© - Porto/PT
Fig. 16: Deep fibromatosis of the left masseter muscle. Axial MR images showing a
isointense to muscle lesion on T1 weighted images, hiperintense in T2weighted images
and avid contrast enhancement. It was biopsy proven to be an agressive fibromatosis.
© - Porto/PT
Fig. 8: Agressive fibromatosis in the right upper arm. The lesion is centered
in an intermuscular location showing hypointense signal on T1-wheighted images,
hyperintense signal on fluid sensitive sequences (STIR) and avid gadolinium
enhancement. It shows rim of fat ("split-fat" sign, green arrow) and linear extension along
fascial planes (the fascial tail sign) (blue arrow).
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© - Porto/PT
Fig. 9: Intraabdominal fibromatosis (mature form). MR images showing a well-defined
intraabdominal mass anterior to the spleen with intermediate signal on T1 weighted
images, low signal on T2 weighted images, and lack of contrast enhancement.
© - Porto/PT
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Conclusion
On contrast-enhanced CT, desmoids (deep fibromatoses) generally present high
attenuation and have either ill- or well-defined margins.
MRI has come to play a crucial role in the management of agressive fibromatosis, from
diagnosis to follow-up. The deep fibromatoses are often heterogeneous with prominent
low signal intensity relative to muscle on T1-weighted images and variable signal intensity
on T2-weighted images. The detection of extension along the fascia (fascial tail sign) and
low-signal-intensity, nonenhancing, collagenized bands adds diagnosis specificity at MR
imaging.
Lesions with high T2 signal and contrast enhancement may be associated with higher
recurrence rates.
Since there are no distinct imaging features to distinguish desmoid tumors from other
solid masses the diagnosis of desmoid tumor should be considered in patients with a
mass with the typical MR features, a history of abdominal surgery or injury, or stated
Gardner syndrome.
Personal information
References
•
•
•
•
•
•
Robbin MR, Murphe, Temple HT, Kransdorf MJ, Choi JJ. Imaging of
musculoskeletal fibromatosis. Radiographics. 2001 May-Jun;21(3):585-600.
Hosalkar HS, Torbert JT, Fox EJ, Delaney TF, Aboulafia AJ, Lackman
RD. Musculoskeletal desmoid tumors.J Am Acad Orthop Surg. 2008
Apr;16(4):188-98.
Walker EA, Petscavage JM, Brian PL, Logie CI, Montini KM, Murphey
MD. Imaging features of superficial and deep fibromatoses in the adult
population. Sarcoma.2012; 2012:215810.
Dinauer PA, Brixey CJ, Moncur JT, Fanburg-Smith JC, Murphey MD.
Pathologic and MR imaging features of benign fibrous soft-tissue tumors in
adults. Radiographics. 2007 Jan- Feb;27(1):173-87.
Hosalkar HS, Torbert JT, Fox EJ, Delaney TF, Aboulafia AJ, Lackman RD.
Musculoskeletal desmoid tumors. J Am Acad Orthop Surg 2008;16:188-198.
Hosalkar HS, Fox EJ, Delaney T, Torbert JT, Ogilvie CM, Lackman RD.
Desmoid tumors and current status of management. Orthop Clin North Am
2006;37:53-63.
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