Updated: 6/22/2021

Extra-abdominal Desmoid Tumor

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  • summary
    • Extra-abdominal Desmoid Tumors are aggressive, malignant, fibrogenic lesions that are associated with familial adenomatous polyposis (FAP).
    • The condition usually presents in patients between the ages of 25 and 35 with a firm, enlarging soft tissue mass
    • Diagnosis is made with a biopsy showing well-differentiated fibroblasts with uniform spindle cells with elongated nuclei and occasional mitoses. Immunohistochemistry will show a positive stain for estrogen receptor-beta.
    • Treatment may be medical management with tamoxifen or wide surgical excision with radiotherapy depending on the size, grade and location of the lesion. 
  • 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%
    • Anatomic 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
  • Etiology
    • 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
  • 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% recurernce with surgery + radiation
  • Prognosis
    • High risk of recurrence
    • Highly unpredictable lesions
    • Occasional spontaneous regression
    • No risk of metastasis or malignant transformation, unless related to radiation

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(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?

QID: 4576
FIGURES:
1

Figure A

25%

(692/2792)

2

Figure B

18%

(506/2792)

3

Figure C

21%

(597/2792)

4

Figure D

10%

(267/2792)

5

Figure E

25%

(689/2792)

L 5 D

Select Answer to see Preferred Response

(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?

QID: 3237
1

Desmoid tumor

82%

(2459/2994)

2

Ewing’s sarcoma

2%

(68/2994)

3

Synovial sarcoma

3%

(91/2994)

4

Multiple myeloma

9%

(257/2994)

5

Giant cell tumor

3%

(98/2994)

L 2 C

Select Answer to see Preferred Response

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

QID: 3071
1

Familial adenomatous polyposis

63%

(1041/1654)

2

Sinding-Larsen-Johansson syndrome

8%

(129/1654)

3

Ollier's disease

8%

(130/1654)

4

Fanconi anemia

5%

(80/1654)

5

McCune-Albright syndrome

16%

(272/1654)

L 3 C

Select Answer to see Preferred Response

(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?

QID: 3038
FIGURES:
1

Osteosarcoma

1%

(37/3043)

2

Leiomyosarcoma

26%

(785/3043)

3

Extraabdominal fibromatoses (desmoid tumor)

69%

(2085/3043)

4

Angiosarcoma

3%

(105/3043)

5

Chondroblastoma

0%

(13/3043)

L 2 D

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