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Ewing Sarcoma in a Patient With Cowden Syndrome
Mod C Chandhanayingyong1, Nicholas M Bernthal2, Piti Ungarreevittaya1
1From the Department of Orthopaedic Surgery, David Geffen School of Medicine, UCLA, Los Angeles, California; Department of Orthopaedic Surgery, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; Department of Pathology, UCLA, Los Angeles, California; Department of Pathology, Khon Kaen University, Khon Kaen, Thailand; Sarcoma Oncology Center, Santa Monica, Santa Monica, California; and Department of Medicine, Division of Hematology/Oncology, David Geffen School of Medicine, UCLA, Los Angeles, California. From the Department of Orthopaedic Surgery, David Geffen School of Medicine, UCLA, Los Angeles, California; Department of Orthopaedic Surgery, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; Department of Pathology, UCLA, Los Angeles, California; Department of Pathology, Khon Kaen University, Khon Kaen, Thailand; Sarcoma Oncology Center, Santa Monica, Santa Monica, California; and Department of Medicine, Division of Hematology/Oncology, David Geffen School of Medicine, UCLA, Los Angeles, California.
Abstract:
A 47-year-old woman, initially diagnosed in 1996 with Cowden syndrome (CS), PTEN-mutant bilateral breast cancer, a thyroid nodule, and uterine fibroids, presented to UCLA in 2013 with Ewing sarcoma of the pelvic bone. Her treatment course included mastectomies, hysterectomy/oophorectomy, and total thyroid resection, and chemotherapy, radiation, and hemipelvectomy for Ewing sarcoma. This case report illustrates the unusual presentation of Ewing sarcoma in a patient with PTEN-mutant CS, the probable underlying molecular pathogenesis, long-term management, and therapeutic considerations.
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