Gardner's Syndrome - Lieberman's eRadiology Learning Sites

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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


References

1.

2.

3.

4.

5.

6.

7.

8.

9.

10.

11 .

12.

13.

14.

15.

16.

17.

Burt, R; Gardner‘s Syndrome. May 29, 2008. http://uptodateonline.com/online/content/topic.do?topicKey=gi_dis/30323&selectedTitle=1~17&source=search_result

Bisgaard ML; Bulow S. Familial adenomatous polyposis (FAP): Genotype correlation to FAP phenotype with osteomas and sebaceous cysts. Am J Med Genet A. 2006 Feb

1;140(3):200‐4.

The Internet Pathology Laboratory for Medical Education. The University of Utah Eccles Health Sciences Library. http://library.med.utah.edu/WebPath/jpeg4/GI143.jpg

Fonseca, LC, Kodama, NK, Nunes, FCF, Maciel, PH, Fonseca, FA, Roitberg, M, de Oliveira, JX, Cavalcanti, MGP. Radiographic assessment of Gardner's syndrome

Dentomaxillofac Radiol 2007 36: 121‐124

Wolf J, Jarvinen HJ, Hietanen J. Gardner's dento‐maxillary stigmas in patients with familial adenomatosis coli. Br J Oral Maxillofac Surg 1986; 24: 410–416

Yuasa K, Yonetsu K, Kanda S, Takeuchi T, Abe K, Takenoshita Y. Computed tomography of the jaws in familial adenomatosis coli. Oral Surg Oral Med Oral Pathol 1993;

76: 251–255

Dr.Anand Gaikwad. Radiology Case of the Month. Case 51. March 2003. http://www.kem.edu/dept/radiology/case51_03.htm

J Casillas, GJ Sais, JL Greve, MC Iparraguirre, and G Morillo Imaging of intra‐ and extraabdominal desmoid tumors . RadioGraphics 1991 11: 959‐968

Dinauer, P. A. et al. Radiographics 2007;27:173‐187

Soravia C; Berk T; Cohen Z . Genetic testing and surgical decision making in hereditary colorectal cancer. Int J Colorectal Dis. 2000 Feb;15(1):21‐8.

Soravia C; Berk T; McLeod RS; Cohen Z. Desmoid disease in patients with familial adenomatous polyposis. Dis Colon Rectum 2000 Mar;43(3):363‐9.

Cochand‐Priollet B; Guillausseau PJ; Chagnon S; Hoang C; Guillausseau‐Scholer C; Chanson P; Dahan H; Warnet A; Tran Ba Huy PT; Valleur P. The diagnostic value of

fine‐needle aspiration biopsy under ultrasonography in nonfunctional thyroid nodules: a prospective study comparing cytologic and histologic findings. Am J Med 1994

Aug;97(2):152‐7

Kakkos SK; Scopa CD; Chalmoukis AK; Karachalios DA; Spiliotis JD; Harkoftakis JG; Karavias DD; Androulakis JA; Vagenakis AG. Relative risk of cancer in sonographically

detected thyroid nodules with calcifications. J Clin Ultrasound 2000 Sep;28(7):347‐52

Ramsden WH. Imaging in the diagnosis and staging of paediatric abdominal tumours. Imaging 2001; 13:262‐271

R Jones, R Spendiff, S Fareedi, and P S Richards The role of ultrasound in the management of nodular thyroid disease

Imaging 19: 28‐38, doi:10.1259/imaging/49938227

Blum, M. Overview of ultrasonography in thyroid disease. Uptodate. May 19, 2008 . http://uptodateonline.com/online/content/topic.do?topicKey=thyroid/22414

Peter A L Bonis, MD Dennis J Ahnen, MD Lisen Axell, MS, CGC. Screening strategies in patients and families with known familial colon cancer syndromes. Uptodate. June

4, 2008

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