Abstract

BackgroundOsteosarcoma is a common malignancy of bone that usually occurs in individuals in the age range of 0–24 years. Extraskeletal osteosarcoma is a rare tumor presentation which originates in non-bony tissues. Extraskeletal osteosarcoma comprises 2–5% of all osteosarcomas and less than 1% of all soft tissue sarcomas. As compared to bone-derived osteosarcoma, extraskeletal osteosarcoma occurs in older age groups. Extraskeletal osteosarcoma has a poorer prognosis than bone osteosarcoma. To the best of our knowledge, this is the first case of extraskeletal osteosarcoma in the anal region.Case presentationA 70-year-old Hazara man presented to a private hospital with the chief complaints of constipation, bloody defecation, and pain during defecation of 1.5 months’ duration. His past history was unremarkable. A digital rectal examination showed a solid growth in the middle part of his anus. A colonoscopic examination was done and showed a solid mass in his anal region. A computed tomography scan revealed an irregular mural thickening in the anal canal with heterogeneous enhancement. The maximum length of the involved segment was measured to be 4.5 cm. No suspicious lesions were noted in other organs. An abdominoperineal resection was performed on our patient. A 22 cm in length resected segment of his colon, consisting of the lower sigmoid, rectum, and anus was sent to us for histopathological examination. Gross examination revealed a polypoid dark-gray tumor measuring 5 × 3 × 2 cm. The cut section revealed gray and white appearance with firm-to-hard consistency and foci of ossification. Microscopic examination revealed normal anorectal mucosa and a spindle cell malignant neoplasm with osteoid formations. No evidence of epithelial carcinoma was noted. Immunohistochemical stains were positive for stabilin-2 and negative for cytokeratin, which confirmed the diagnosis of osteosarcoma.ConclusionExtraskeletal osteosarcoma of the colon is rare and presence of the tumor in the rectum and anal region is extremely rare. Radiology, colonoscopy, and histopathology with immunostaining are required for the diagnosis. The accurate diagnosis of extraskeletal osteosarcoma is important as it has a different regimen of treatment with poorer prognosis compared to primary osteosarcoma of the bone.

Highlights

  • ConclusionExtraskeletal osteosarcoma of the colon is rare and presence of the tumor in the rectum and anal region is extremely rare

  • Osteosarcomas derive from primitive mesenchymal cells characterized by the presence of malignant mesenchymal cells that produce osteoid

  • Two theories exist regarding the pathogenesis of Extraskeletal osteosarcoma (ESOS): The first theory states that osteosarcoma develops in mesoblastic tissue residues of embryonic origin

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Summary

Conclusion

Primary ESOS of the anorectal region is extremely rare. Colonoscopy, and histopathology with IHC stains are required to confirm the diagnosis. The accurate diagnosis of ESOS is important because its poorer prognosis and different regimen of treatment compare to the primary bone osteosarcoma

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