Updated: 4/24/2019

Extra-abdominal Desmoid Tumor

Topic
Review Topic
0
0
Questions
5
0
0
Evidence
5
0
0
https://upload.orthobullets.com/topic/8062/images/t2 mri desmoid 2.jpg
https://upload.orthobullets.com/topic/8062/images/desmoid tumor.jpg
https://upload.orthobullets.com/topic/8062/images/extra abdominal desmoid tumor.jpg
https://upload.orthobullets.com/topic/8062/images/41b_moved.jpg
Introduction
  • Overview
    • a fibrogenic lesion that is the most locally invasive of all benign soft tissue tumors.
  • Epidemiology
    • incidence
      • 900 cases a year in US
    • demographics
      • younger individuals (25-35 years of age)
      • female>male (3:1)
      • higher incidence in familial adenomatous polyposis (FAP) and Gardner syndrome 4-30%
    • location
      • most common shoulder (20%) > chest wall/back (17%) > thigh (13%)
      • >50% are extra-abdominal
      • may have multiple lesions in the same extremity
        •  subsequent mass usually appears more proximally in the same limb
      • appears in sites of previous surgery or scars
  • Genetics
    • patient's with familial adenomatous polyposis (FAP) have increased risk for development of desmoid tumors  
      • 15% of tumors have adenomatous polyposis coli (APC) gene mutation (gene controls beta catenin)
      • elevated levels of beta catenin in all tumors
    • trisomy in chromosome 8 or 20
  • Associated conditions
    • Dupuytren contractures
    • Ledderhose disease
    • familial adenomatous polyposis (FAP)
    • Gardner syndrome
  • Prognosis
    • high risk of recurrence
    • highly unpredictable lesions
    • occasional spontaneous regression
    • no risk of metastasis or malignant transformation, unless related to radiation
Symptoms
  • Presentation
    • usually an enlarging mass
    • nerve compression
      • numbness, tingling, motor weakness, stabbing pain
  • Physical exam
    • has a distinctive "rock hard" feel on palpation
      • because tumor is fixed to surrounding tissues
    • poorly circumscribed
    • may be painful and limit motion around joint
Imaging
  •  Radiographs
    • play minimal role in diagnosis
    • some tumors encroach on/erode bone or trigger periosteal reaction that extends into tumor as "frond like" spicules of bone
  • MRI
    • Indications
      • best means to diagnose
      • exclude multicentric lesions (in the same extremity)
    • findings
      • low signal intensity on T1-weighted images
      • low to medium intensity on T2-weighted images
      • Gadolinium enhances appearance
      • infiltrates muscle
      • 5-10cm in size
      • may erode bone locally
Studies
  • Gross specimen
    • gritty
    • white
    • poorly encapsulated
  • Histology
    • Classic characteristics are 
      • well differentiated fibroblasts 
      • uniform spindle cells with elongated nuclei and occasional mitoses
      • abundant collagen
      • tumor infiltrates adjacent tissues
  • Molecular Genetics/Immunohistochemisty
    • positive 
      • 100% positive for estrogen receptor-beta  
      • somatostatin
      • cathepsin D
      • Ki-67
      • c-Kit
    • negative
      • estrogen receptor-alpha
      • progesterone receptor
      • HER2
Treatment
  • Nonoperative
    • low dose-chemotherapy only / tamoxifen 
      • indications
        • inoperable lesions
        • tamoxifen favored for failed/poor candidates for standard chemotherapy 
          • works because most lesions occur in women and are more aggressive in women, especially premenopausal
          • tamoxifen works via an estrogen receptor blockage
    • tumors may remain stable and regress 
      • observation compares favorably with surgical management in some studies
  • Operative
    • wide surgical resection with radiotherapy
      • indications
        • symptomatic lesion
        • recurrent lesion
          • local recurrence is common (reduced recurrence with radiotherapy)
      • external beam radiation dose 50-60Gy
Complications
  • Recurrence
    • margin negative
      • 28% recurrence with surgery alone
      • 6% recurence with surgery + radiation
    • margin positive
      • 39% recurence with surgery alone
      • 25% recurrnce with surgery + radiation
IBank
  Location
Xray
Xray
CT
B. Scan
MRI
MRI
Histo(1)

Case A

tibia
 
 
(1) - histology does not always correspond to case 


 

Please rate topic.

Average 3.2 of 16 Ratings

Thank you for rating! Please vote below and help us build the most advanced adaptive learning platform in medicine

The complexity of this topic is appropriate for?
How important is this topic for board examinations?
How important is this topic for clinical practice?
Questions (5)
Question locked
Sorry, this question is for
PEAK Premium Subscribers only
Upgrade to PEAK

(OBQ10.149) Estrogen receptor blockade has been moderately successful treating which of the following tumors, while reducing the morbidity of side-effects associated with previous treatments? Review Topic

QID: 3237
1

Desmoid tumor

81%

(1693/2085)

2

Ewing’s sarcoma

2%

(49/2085)

3

Synovial sarcoma

3%

(64/2085)

4

Multiple myeloma

10%

(204/2085)

5

Giant cell tumor

3%

(65/2085)

ML 2

Select Answer to see Preferred Response

PREFERRED RESPONSE 1

(OBQ12.216) A 35-year-old female presents with an enlarging, painless “lump” on her left posterior shoulder. She denies weakness or paresthesias of her left upper extremity. Her maternal uncle, mother, brother, and herself have a history of multiple colonic polyps, jaw osteomas and epidermoid cysts. She ultimately undergoes biopsy of the mass. Which of the following is most likely to be consistent with the histology of the biopsy specimen? Review Topic

QID: 4576
FIGURES:
1

Figure A

26%

(600/2324)

2

Figure B

18%

(407/2324)

3

Figure C

20%

(475/2324)

4

Figure D

9%

(212/2324)

5

Figure E

26%

(596/2324)

ML 5

Select Answer to see Preferred Response

PREFERRED RESPONSE 2

(OBQ09.225) A 20-year-old female presents with a "rock-hard" mass in the calf shown in Figure A. MRI, gross pathology, and histology images are shown in Figure B-D, respectively. Immunohistochemical studies of the mass were strongly positive for Estrogen receptor-beta expression. What is the most likely diagnosis? Review Topic

QID: 3038
FIGURES:
1

Osteosarcoma

1%

(28/2438)

2

Leiomyosarcoma

26%

(622/2438)

3

Extraabdominal fibromatoses (desmoid tumor)

69%

(1674/2438)

4

Angiosarcoma

4%

(90/2438)

5

Chondroblastoma

0%

(9/2438)

ML 2

Select Answer to see Preferred Response

PREFERRED RESPONSE 3

(OBQ09.258) Which inherited condition shows a strong association with extra-abdominal desmoid tumors? Review Topic

QID: 3071
1

Familial adenomatous polyposis

62%

(839/1356)

2

Sinding-Larsen-Johansson syndrome

9%

(116/1356)

3

Ollier's disease

8%

(102/1356)

4

Fanconi anemia

5%

(68/1356)

5

McCune-Albright syndrome

17%

(230/1356)

ML 3

Select Answer to see Preferred Response

PREFERRED RESPONSE 1
ARTICLES (8)
Topic COMMENTS (5)
Private Note