Melanotic Xp11-associated tumor of the sigmoid colon: A case report

Melanotic Xp11-associated tumors are rare mesenchymal-derived tumors. So far, most primary melanotic Xp11-associated tumors have been reported in the kidney, and reports of this tumor in the gastrointestinal tract are rare.

Here we describe the case of a 25-year-old woman who presented with a melanotic Xp11-associated tumor in the sigmoid colon. Colonoscopy revealed a large mucosal bulge in the sigmoid colon, approximately 32 cm inside the anus. The surface was rough with local erosion. The tumor was brittle on biopsy and bled easily. Computed tomography revealed thickening of the rectal wall with edema. Postoperative pathology indicated the likelihood of a perivascular epithelioid cell tumor. Histologically, the tumor comprised plump epithelioid cells with abundant clear to lightly eosinophilic cytoplasm and round nuclei arranged in an alveolar or trabecular pattern. The tumor cells were strongly positive for HMB-45, Melan-A, Cathepsin K, and TFE3 but negative for vimentin, smooth muscle actin, S100 protein, CD10, CK20, and desmin. The tumor cells had a low Ki-67 labeling index (approximately 2%). Fluorescence in situ hybridization revealed TFE3 fracture. Based on these histologic and immunohistochemical features, a diagnosis of melanotic Xp11-associated tumor of the sigmoid colon was made.

In summary, we report the clinicopathological features of a primary tumor that is extremely rare in the sigmoid colon and review the clinicopathological characteristics of melanotic Xp11-associated tumors, compatible with the very rare tumor termed "melanotic Xp11 translocation renal cancer" in all aspects.