Gardner's Syndrome - Lieberman's eRadiology Learning Sites

Patient Report & Review of Radiologic Features
Pauline Mulleady, BUSM IV
Gillian Lieberman, MD
November 2008

Patient Report: Ms. CB
Chief Complaint
Weight loss >13 lbs in one month
HPI
38 year old woman with Gardner's Syndrome
(diagnosed at age 23) and s/p colectomy (1985) and
multiple other small bowel resections secondary to
desmoid tumors , now with weight loss.
Today on monthly clinic visit, patient weighed in at
93lbs, down 13lbs from her prior visit. She tries to
drink 2‐4 cans of Ensure daily but is often unable to
meet her goal due to early satiety. She also endures
abdominal pain, n/v, and increased abdominal girth.

Ms. CB (cont’d)
PMH
Gardner's syndrome,
s/p colectomy,
s/p mutiple small bowel resections
Small bowel adenocarcinoma
s/p dermoid cyst removal (Left ovary)
DVT, PE 2001
Family History
Father & 6/8 siblings with Gardner's syndrome .
Father died at age 42 from polyp blocking pancreatic
duct.
Sister diagnosed with Gardner’s when attempting to
enter marines, led to genetic testing of whole family

What is Gardner’s
Syndrome?

Background
In the early 1950s, Dr. Eldon Gardner described
a family displaying not only the intestinal
signs typical of familial adenomatous
polyposis (FAP), but also a number of extra‐
intestinal lesions such as osteomas,
epidermal cysts, desmoid tumors, etc.
This combination of FAP‐like colonic
adenomatosis and extra‐colonic lesions came
to be known as Gardner’s Syndrome.

Intestinal Lesions
Familial Adenomatous Polyposis
characterized by thousands of
colonic adenomatous polyps
extending from the stomach,
duodenum, and colon.
Incidence is approximately 1 case
in 8000
Chance of malignant
transformation to colon cancer is
100% without surgical
intervention.
The University of Utah Eccles Health Sciences Library [3]
http://library.med.utah.edu/WebPath/GIHTML/GI143.html

Genetics
It is now known that an autosomal
dominant genetic disorder mutation
in the adenomatous polyposis coli
(APC) gene, the same gene
responsible for FAP, is responsible for
Gardner’s Syndrome (GS) [1].
The extraintestinal signs of GS have
been found in 20% of patients with
FAP [2].
Gardner’s syndrome is generally
considered a variant of FAP, possibly
representing variable penetrance.

ExtraIntestinal Lesions
Osteomas and dental abnormalities
Desmoid tumors
Cutaneous lesions
Congenital hypertrophy of the retinal
pigment epithelium
Adrenal adenomas

Osteomas & Dental
Abnormalities
Skeletal abnormalities are seen in approximately 90% of
patients with GS [4]
Osteomas
most common abnormality. Osteomas precede clinical
and radiologic evidence of colonic polyposis; therefore,
they may be sensitive markers for the disease.
Sites include:
outer cortex of the skull,
paranasal sinuses and the mandible [4]
May occur in long bones, but less frequently
Dental abnormalities
Supernumerary teeth, compound odontomas and/or impacted
teeth were seen in 30% of the patients with this disease

Osteoma: Radiographic
Detection (Companion Pt #1)
Fonseca, LC. Dentomaxillofac Radiol [6]
Dental panoramic radiography may be useful for early detection of GS, as
osteomas (arrows) & dental abnormalities not apparent on physical examination
can be detected on routine radiographs in up to 90 percent of FAP patients [5].

Osteoma: CT Detection (Companion Pt
#2)
However, given the
bidimensional imaging
quality and
superimposition of bony
structures seen with
panradiography, CT is
superior for localizing and
assessing the extent of
tumor mass.[6]
Shown here:
Plain films: well‐defined osteo‐sclerotic
lesion, with lobulated margins involving
the frontal & ethmoidal air sinuses
CT Scan: intra‐cranial & extra dural
extension of the osteoma with
compression of the brain parenchyma
anteriorly. Incidentally, the brain
parenchyma was normal & did not show
any focal area of abnormal attenuation.
Plain films
Axial CT
Dr.Anand Gaikwad http://www.kem.edu/dept/radiology/case51_03.htm [7]

Desmoid tumors‐
General Info
The term desmoid is derived from the Greek word
desmos, which means “tendonlike.”
Desmoid tumors often appear as infiltrative, usually well‐
differentiated, poorly circumscribed fibrous neoplasms
originating from the musculoaponeurotic structures .
They are also known as “aggressive fibromatosis,” a
tribute to their aggressive local behavior. However, they
are considered benign as they do not metastasize.
In the general population, desmoid tumors arise most
commonly from the rectus abdominis muscle in
postpartum women or from abdominal surgery scars [8].

Desmoid tumor‐ Microscopic
Shown here: a poorly
circumscribed
proliferation of spindle
cells (fibroblast‐like) of
uniform appearance and
separated from one
another by dense bands
of collagen . The lesion
(*) has infiltrated
adipose tissue (arrow)
and skeletal muscle (M).
The tumors tend to
infiltrate adjacent
muscle bundles,
frequently entrapping
them and causing their
degeneration.
Dinauer, P. A. et al. Radiographics
2007;27:173-187

Desmoid Tumor‐ Macroscopic
Tumors range from
5‐20 cm in diameter
and have a firm,
gritty texture. The
cut surface reveals
a glistening white ,
trabeculated tissue.
The tumors lack a
true capsule.
Dinauer, P. A. et al. Radiographics 2007;27:173-187

Desmoid Tumor‐ Differential
There are no specific
imaging features to
distinguish desmoid
tumors from other solid
masses. Thus, the
diagnosis of desmoid
tumor should be
considered in patients
with an abdominal
mass, a history of
abdominal surgery or
injury, or Gardner
syndrome.
Differential Diagnosis of Desmoid Tumors
Malignant Fibrosarcoma, rhabdomyosarcoma
synoviosarcoma, liposarcoma, fibrous
histiocytoma,
lymphoma, and metastases
Benign Neurofibroma, neuroma, and leiomyomas
Hematoma Rectus sheath, chest wall, mesentery,
retroperitoneum
Adapted from Casillas, J. RadioGraphics 1991 11: 959-968

Desmoid Tumors‐ Gardner’s
Syndrome
Peak incidence of desmoid tumor in GS is between 28 and 31
years [1]
About ½of abdominal desmoids occur intra‐abdominally
while the other 1/2 are found in tissues of the abdominal wall
Mesentenic desmoids tend to develop 1 or 2 years after
resection of the intestinal tract. They may even be
accompanied by an anterior abdominal wall tumor arising
from the surgical scar.
However, a few have been noted to arise before surgery and
even before the onset of polyposis [1].
Clinically, desmoids may be asymptomatic or may cause
pain or intestinal obstruction as a result of impingement.

Desmoid Tumor‐ Imaging
Ultrasound
variable echogenicity, with smooth, well‐
defined margins.
CT
On contrast‐enhanced scans, the tumors are
generally high attenuation (relative to muscle)
& may have well‐defined margins.
MRI
T1: low signal intensity relative to muscle and
T2: variable signal intensity on T2‐weight

Our Patient: CB
I+ Axial CT
PACS BIDMC
I+ Sagittal CT
PACS BIDMC
Enhancing ST density material extends diffusely along the intra‐abdominal
mesentery, tethering the SB loops. Within the right anterior abdominal wall,
there is an 8.6 x 4.2 cm heterogeneously‐enhancing ST mass measuring 8.6 x
4.2 cm. The proximal loops of SB are dilated, with multiple air‐fluid levels.

Desmoid Tumor:MRI (Companion Pt
#3)
A B
Dinauer, P. A. et al. Radiographics 2007;27:173-187
Axial T2 MRI
C+ Sagittal T1 MRI
(a) Axial T2‐weighted image shows a large heterogeneous mass (arrow) in the
left abdominal wall containing regions of intermediate to low signal intensity.
(b) Sagittal gadolinium‐enhanced T1‐weighted image shows an enhancing
tumor (arrow) that involves fascial layers of the left rectus abdominis muscle.

Our Patient‐ CB
CTA 3D Reconstruction
PACS BIDMC
C+ Axial CT
PACS BIDMC
The main morbidity & mortality of desmoid tumors is due to their ability to
engulf & eventually strangle blood vessels, nerves, ureters, & small bowel.
Mortality is as high as 10 to 50 percent in patients who have a desmoid
tumor [1]. However, progression is often gradual and the 10 year survival
rate is 63 % [1].

EXTRA‐COLONIC MALIGNANCIES
Thyroid (12 percent)
Duodenal and periampullary (3 to 5 percent)
Pancreatic (2 percent)
Gastric (0.6 percent)
Central nervous system (

Thyroid cancers
The mean age of diagnosis is 33 years [1].
The thyroid should probably be subject to physical examination
and ultrasound annually, starting at age 10 to 12 years [1] .
UltraSound
Blum, M. http://uptodateonline.com/online/content/topic.do?topicKey=thyroid/22414
Top panel: A sonogram of the left lobe of the thyroid
gland that shows a hypoechoic nodule that is
surrounded by a "halo."
Lower panel: Doppler image shows that the "halo" is
vascular.
N: nodule; L: thyroid lobe

Summary
The follow‐up and management of patients
with Gardner's syndrome requires a
collaboration of gastroenterologists, general
surgeons, oral surgeons, radiologists,
endocrinologists, neurologists,
ophthalmologists, and dermatologists.
Radiologists are in a unique position to
initially diagnose this disorder.

Acknowledgements
Jay Catena, MD

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