Merkel cell carcinoma of the lower leg with retroperitoneal GIST: a very rare association

Merkel cell carcinoma (MCC) is a rare neuroendocrine tumor of the skin. Although its association with other malignancies is well known, an association with gastrointestinal stromal tumor (GIST) has yet not been described. We report about a 65-year-old female patient who presented with a hypervascularized subcutaneous tumor mass of her left calf. Resection of the primary tumor and histopathological investigations confirmed the diagnosis of MCC. The patient was treated by delayed Mohs surgery, and tumor-free margins were obtained. Sentinel lymph node biopsy was negative for metastatic spread. Primary tumor and lymph node basin were treated by adjuvant radiotherapy. During staging of the patient, a second malignancy—a GIST—was detected. Neoadjuvant treatment with multikinase inhibitor imatinib induced a partial response of GIST that was eventually removed by surgery. However, 8 months later, the patient developed subcutaneous regional metastases of MCC, which were surgically removed. Adjuvant therapy was planned by oncologists. To the best of our knowledge, the occurrence of MCC and GIST in the same patient has yet not been reported. In contrast to GIST, MCC did not respond to imatinib, although c-kit mutations are common in MCC.