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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?
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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.
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)
Hosalkar HS, Torbert JT, Fox EJ, Delaney TF, Aboulafia AJ, Lackman RD.
J Am Acad Orthop Surg. 2008 Apr;16(4):188-98. PMID: 18390481 (Link to Abstract)
El-Haddad M, El-Sebaie M, Ahmad R, Khalil E, Shahin M, Pant R, Memon M, Al-Hebshi A, Khafaga Y, Al-Shabanah M, Allam A.
Clin Oncol (R Coll Radiol). 2009 Dec;21(10):775-80. Epub 2009 Oct 28. PMID: 19875275 (Link to Abstract)
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Estrogen receptor blockade has been moderately successful treating which of the following tumors, while reducing the morbidity of side-effects associated with previous treatments?
Giant cell tumor
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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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?
Extraabdominal fibromatoses (desmoid tumor)
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.
Deyrup AT, Tretiakova M, Montag AG
Cancer. 2006 Jan;106(1):208-13. PMID: 16333857 (Link to Abstract)
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Which inherited condition shows a strong association with extra-abdominal desmoid tumors?
Familial adenomatous polyposis
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.
Hosalkar HS, Fox EJ, Delaney T, Torbert JT, Ogilvie CM, Lackman RD
Orthop. Clin. North Am.. 2006 Jan;37(1):53-63. PMID: 16311111 (Link to Abstract)
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