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Updated: Dec 27 2021

Desmoid Tumors

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https://upload.medbullets.com/topic/422916/images/desmoidtumor..jpg
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  • Snapshot
    • A 35-year-old man presents to his primary care physician after noticing a mass in his mid-abdomen. He denies any recent trauma to the abdomen, nausea, vomiting, or changes in his bowel habits. He says that the mass is not painful but causes mild abdominal disomfort. His father had "colon polyps" that required prophylactic removal of his colon. On physical examination, there is a firm and oblong mass in the epigastric region that is not painful to palpation. An MRI of the abdomen demonstrates an intraabdominal mass. He undergoes surgical removal, and pathology demonstrates spindle cells with abundant fibrous stroma that is concerning for a desmoid tumor.
  • Introduction
    • Overview
      • slow growing, locally aggressive fibroblastic tumors associated with a high rate of recurrence despite complete resection
      • have no metastatic potential
  • Epidemiology
    • Incidence
      • rare (0.03% of all neoplasms)
    • Location
      • trunk/extremity
      • abdominal wall
      • intraabdominal (e.g., bowel and mesetary)
        • predominate in familial adenomatous polyposis
    • Risk factors
      • familial adenomatous polyposis
      • Gardner syndrome
      • high estrogen states (e.g., pregnancy)
      • antecedent trauma
  • ETIOLOGY
    • Pathophysiology
      • pathobiology
        • APC gene and beta-catenin appear to be involved
    • Genetics
      • mutations
        • Wnt signaling is thought to play a role
    • Associated conditions
      • familial adenomatous polyposis
      • Gardner syndorme
      • pregnancy
  • Presentation
    • Symptoms
      • common symptoms
        • painless or minimally painful mass
      • intestinal obstruction
        • nausea and vomiting
      • bowel ischemia
        • abdominal pain
    • Physical exam
      • desmoid tumors can occur at any body site
      • mass on abdominal palpation
        • nontender to palpation
      • breast mass in breast demoids (rare)
  • Imaging
    • Cross-sectional imaging with CT or MRI
      • indications
        • to visualze the mass affecting a designated part of the body
      • findings
        • desmoids do not have a charateristic imaging fings and are hard to distinguish from malignant soft tissue tumors
  • Studies
    • Invasive studies
      • histology
        • performed with incisional viopsy
          • obtains much more tissue than a core needle biopsy
        • findings
          • monoclonal fibroblastic prolierations
            • spindle cells with abundant fibrous stroma
  • Differential
    • Keloids
      • differentiating factors
        • painful and pruritic
        • does not spontaneously regress
  • Treatment
    • Nonoperative
      • observation
        • indication
          • asymptomatic patients who can be reliably followed
      • radiation therapy
        • indications
          • patients who are not surgical candidates
          • patients who refuse surgery
          • in patients with significant surgical morbidity after resection
    • Operative
      • complete surgical excision
        • indication
          • resectable extraabdominal or abdominal wall desmoids
  • Complications
    • Death
      • if desmoid tumor grows in vital structures and organs (e.g., bowel), it can directly compression or disrupt of the organ function
  • Prognosis
    • Natural history of disease
      • variable, most progressively grow overtime and may have growth arrest or spontaneously regress
    • Prognostic variable
      • familial adenomatous polyposis
        • desmoid tumors tend to recur at surgical sites
      • infiltration to vital organs can result in death even though it is histologically benign
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