title: Ewing Sarcoma in a Patient With Cowden Syndrome.
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.
authors.affiliation: 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. 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.
authors.forename: Mod C
authors.initials: MC
authors.lastname: Chandhanayingyong
authors.affiliation: 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.
authors.forename: Nicholas M
authors.initials: NM
authors.lastname: Bernthal
authors.affiliation: 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. 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.
authors.forename: Piti
authors.initials: P
authors.lastname: Ungarreevittaya
authors.affiliation: 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.
authors.forename: Scott D
authors.initials: SD
authors.lastname: Nelson
authors.affiliation: 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.
authors.forename: Sant P
authors.initials: SP
authors.lastname: Chawla
authors.affiliation: 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.
authors.forename: Arun S
authors.initials: AS
authors.lastname: Singh
mesh_terms: D003131:Combined Modality Therapy; D005260:Female; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D006801:Humans; D016130:Immunophenotyping; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009154:Mutation; D051059:PTEN Phosphohydrolase / Q000235:genetics; D049268:Positron-Emission Tomography; D012512:Sarcoma, Ewing / Q000175:diagnosis* / Q000628:therapy; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome
chemical_list: D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human