http://upload.orthobullets.com/topic/8062/images/t2 mri desmoid 2.jpg
http://upload.orthobullets.com/topic/8062/images/desmoid tumor.jpg
http://upload.orthobullets.com/topic/8062/images/extra abdominal desmoid tumor.jpg
http://upload.orthobullets.com/topic/8062/images/41b_moved.jpg

Introduction
  • 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 (15-40 years of age)
      • slightly female>male
    • location
      • most common shoulder, chest wall/back, thigh
      • >50% are extra-abdominal
      • may have multiple lesions in the same extremity
        •  subsequent mass usually appears more proximally in the same limb
  • Genetics
    • patient's with familial adenomatous polyposis have significant risk for development of extra-abdominal desmoid tumors.  
    • trisomy in chromosome 8 or 20
  • Associated conditions
    • Dupuytren contractures
    • Ledderhose disease
  • 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 painless mass
  • Physical exam
    • has a distinctive "rock hard" feel on palpation
Imaging
  •  Radiographs
    • play minimal role in diagnosis
  • MRI
    • Indications
      • best means to diagnose
    • 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
  • Immunohistochemisty
    • 100% positive for Estrogen receptor-beta  
Treatment
  • Nonoperative
    • low dose-chemotherapy only / tamoxifen 
      • indications
        • inoperable lesions
      • technique
        • tamoxifen works via an estrogen receptor blockage
  • Operative
    • wide surgical resection with radiotherapy
      • indications
        • symptomatic lesion
        • recurrent lesion
          • local recurrence is common (reduced recurrence with radiotherapy)
      • external beam radiation dose- up to 60Gy
IBank
  Location
Xray
Xray
CT
B. Scan
MRI
MRI
Histo(1)

Case A

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


 

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Questions (4)

(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

28%

(480/1736)

2

Figure B

17%

(288/1736)

3

Figure C

20%

(342/1736)

4

Figure D

9%

(148/1736)

5

Figure E

26%

(451/1736)

Select Answer to see Preferred Response

PREFERRED RESPONSE 2

The etiology of an enlarging, painless mass over the shoulder in a patient with familial adenomatous polyposis (FAP) is most consistent with an extra-abdominal desmoid tumor, with histologic findings including well-differentiated fibroblasts, uniform spindle cells with elongated nuclei and occasional mitoses (Figure B).

Extra-abdominal desmoid tumors are the most locally invasive of all benign soft tissue tumors. They are most often found in female patients between the ages of 15 and 40 and often occur in the shoulder, chest-wall/back, and thigh regions. Patients with familial adenomatous polyposis (FAP) have a 10,000 times increased risk of developing these tumors. Treatment includes nonoperative management with chemotherapy (tamoxifen) for inoperable lesions, and wide surgical resection with external beam radiation therapy.

El-Haddad et al. recently reviewed their institution’s experience with 54 patients undergoing surgical and/or radiation therapy for aggressive fibromatosis. The author noted comparable results between patients presenting with tumor recurrence and those with initial presentation with regard to local tumor control following treatment.

Hosalkar et al. reviewed musculoskeletal desmoid tumors. In this Level V review, the authors noted that despite the benign nature of desmoid tumors, multidisciplinary methods of treatment are needed, including surgery, chemotherapy, hormonal therapy, and/or radiation therapy is needed.

Incorrect Responses:
1 - This pathology is consistent with Neurofibroma, showing fibroblasts with mixed Schwann cells, mast cells, and lymphocytes; with elongated, wavy nuclei (Figure A)
3 - This pathology is consistent with Pigmented Villonodular Synovitis, with mononuclear stromal cells, pigmented foam cells, hemosiderin stained multinucleated giant cells, with multiple mitotic figures (Figure C)
4 - This pathology is consistent with Ewing's Sarcoma, with monotonous small round blue cells with prominent nuclei and minimal cytoplasm (Figure D)
5 - This pathology is consistent with Non-Ossifying Fibroma, with fibroblastic spindle cells in whirled/storiform pattern, lipophages, giant cells, hemosiderin pigmentation (Figure E)


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(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

80%

(1173/1471)

2

Ewing’s sarcoma

3%

(46/1471)

3

Synovial sarcoma

3%

(40/1471)

4

Multiple myeloma

12%

(174/1471)

5

Giant cell tumor

2%

(30/1471)

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PREFERRED RESPONSE 1

Moderate, short-term success has been accomplished by treating desmoid tumors, also known as aggressive fibromatosis, with tamoxifen. These tumors can be found throughout the body and are benign, but can be locally aggressive. Among the soft-tissue tumors, they have the highest rate of local recurrence after wide resection when adjuvant therapies are not used. Various chemotherapy and radiation regimens have been used to successfully treat these tumors. However, tamoxifen is the preferred choice for patients who cannot tolerate the side-effects of traditional chemotherapy and radiation. Some studies have found that 100% of desmoid tumors express estrogen receptor-beta. Hosalkar et al provide an excellent review of musculoskeletal desmoid tumors, and express the conclusions above.


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(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%

(16/1549)

2

Leiomyosarcoma

25%

(392/1549)

3

Extraabdominal fibromatoses (desmoid tumor)

70%

(1077/1549)

4

Angiosarcoma

3%

(47/1549)

5

Chondroblastoma

0%

(6/1549)

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PREFERRED RESPONSE 3

The clinical presentation and imaging studies are consistent with extraabdominal fibromatoses, also known as a desmoid tumor.

Extraabdominal fibromatoses (desmoid tumor) is an infiltrative tumor composed of fibroblasts and myofibroblasts that, despite high incidence of local recurrence, does not metastasize. It occurs in individuals 15-40 years of age and is 10,000 times more likely to develop in patients with familial adenomatous polyposis (FAP) syndrome. Treatment is typically wide resection much like soft tissue sarcoma.

Deyrup et al reviewed 40 cases of extraabdominal fibromatosis and found that 100% of the patients were positive for estrogen receptor-beta expression and 100% of the cases were negative for estrogen receptor-alpha expression.

Illustration A details the histopathology of the desmoid tumor in this case.

ILLUSTRATIONS:

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

QID:3071
1

Familial adenomatous polyposis

61%

(690/1127)

2

Sinding-Larsen-Johansson syndrome

9%

(97/1127)

3

Ollier's disease

7%

(81/1127)

4

Fanconi anemia

5%

(61/1127)

5

McCune-Albright syndrome

18%

(198/1127)

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PREFERRED RESPONSE 1

Patients with Familial adenomatous polyposis (FAP) have a 10,000 times increased risk of developing extra-abdominal desmoid tumors.

Familial adenomatous polyposis (FAP) is an inherited condition due to mutation in the tumor suppressor gene APC that manifests with multiple benign polyps in the epithelium of the large intestine, with risk for malignant polyp transformation over time. The mutation in the APC tumor suppressor gene predisposes these patients to other neoplasms, including extra-abdominal desmoid tumors.

The review by Hosalker discusses the genetics, diagnosis, and management of patients with desmoid tumors. They report that desmoid tumors, also known as aggressive fibromatosis, are rare fibroblastic tumors that exhibit a wide range of local aggressiveness.

Incorrect Answers: Sinding-Larsen-Johansson syndrome, Ollier's disease, Fanconi anemia, and McCune-Albright syndrome show no association with extra-abdominal desmoid tumors.


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