Desmoid Tumor Causing Shoulder Pain in an Adolescent Male

A 17-year-old adolescent boy was referred by an orthopaedic physician to physical therapy for chronic left shoulder pain and a clinical diagnosis of labral tear. The physician ordered current radiographs, which were noncontributory. Findings during physical therapy examination warranted referral back to the physician, with a request for magnetic resonance imaging. Magnetic resonance imaging revealed a soft tissue abnormality in the infraclavicular and subcoracoid spaces. The patient was referred to orthopaedic oncology, where biopsy confirmed a desmoid tumor.

We report here the case of a 27yrs old male with aggressive fibromatosis that recurred following a surgical excision, and resulted in hampering the quality of life. The disease was managed using cytotoxic chemotherapy with doxorubicin, resulting in significant clinical and radiological response. It was followed by maintenance regimen using a less aggressive approach with non-steroidal anti-inflammatory drugs such as celecoxib that resulted in further clinical response at 2 months follow up. Therefore, the therapy was further continued.

Mediastinal tumors may cause a wide range of symptoms; therefore, it should be considered in the differential diagnosis, after excluding common causes, when dealing with pulmonary and cardiac symptoms such as dyspnea or even mitral regurgitation. The most common site of the desmoid tumors is the abdomen, but in very rare cases, it can be located in the mediastinum.

A 52?year?old healthy patient presented with abdominal pain, nausea, and vomiting. Physical examination revealed abdominal distension and diffuse tenderness. An abdominal CT scan revealed a mesenteric mass measuring 9 ? 6 cm in the pelvis and small bowel mechanical obstruction. The mass was in contact with last ileal loop. A mini?laparotomy was performed with small segmental resection and manual end?to?end anastomosis. The patient was discharged on postoperative day 4, and at follow?up at 1 month, he had no complaints.

We present a case of a desmoid tumor of the splenic hilum laparoscopically resected in a 70-year-old male with a previous history of chromophobe renal cell carcinoma and ocular spindle melanoma.

Nuclear beta catenin is a well known diagnostic marker for fibromatosis but with limited specificity and frequent background stain. Calretinin is an intracellular calcium binding protein that is found to be expressed in many cell types. The study included 20 desmoid cases (abdominal wall fibromatosis) along with 7 cases of intra-abdominal mesenteric fibromatosis and other spindle cell lesions including 11 MPNST (malignant peripheral nerve sheath tumor) cases, 15 cases LMS (leiomyosarcoma), 5 cases synovial sarcoma, 9 cases SFT (solitary fibrous tumor), 19 cases GIST (gastrointestinal stromal tumor), 12 cases Schwannoma and 13 cases neurofibroma which were retracted from the pathology files at Ain Shams University Hospitals with revision of all their available clinical data and available stained sections and then subjected to calretinin immunostain. Calretinin immunohistochemical expression was positive in 85.1% of deep fibromatosis cases including cases of desmoid tumor (18/20) and mesenteric fibromatosis (5/7) (48.1% patchy and 37% diffuse), 33.3% of LMS were presented by diffuse staining, 83.3% of schwannoma were presented by patchy staining. While all cases (100%) of MPNST, synovial sarcoma, SFT and GIST were negative for calretinin. Sensitivity was 85.2% and specificity 80.9% with positive predictive value 59% and negative predictive value 94%. Calretinin can be used to raise the diagnostic accuracy of fibromatosis versus other spindle cell lesions especially when MPNST, synovial sarcoma, SFT, and GIST are considered in the differential diagnosis.