title: Pleomorphic Liposarcoma Arising in a Lipoleiomyosarcoma of the Uterus: Report of a Case With Genetic Profiling by a Next Generation Sequencing Panel.
abstract: Uterine tumors with adipocytic differentiation are very uncommon. Mature adipocytes are sometimes seen as an element of smooth muscle neoplasms, more often as lipoleiomyoma, but also in the rare lipoleiomyosarcoma. Exceptional cases have been reported of various subtypes of liposarcoma associated with uterine smooth muscle tumors with or without adipocytic differentiation. We present a case of pleomorphic liposarcoma arising in a lipoleiomyosarcoma of the uterus. Genomic profiling was performed using a validated next generation sequencing panel covering 410 common cancer genes. Alterations were identified in TP53, PTEN, RB1, FAT1 and TERT. The patient's presentation and clinical course as well as the tumor's morphologic, immunohistochemical and molecular genetic findings are reviewed.
authors.affiliation: Department of Laboratory Medicine and Pathology (J.K.S., A.M.M.), Mayo Clinic, Rochester, Minnesota Department of Pathology (J.K.S.), Johns Hopkins Hospital Kelly Gynecologic Oncology Service (M.F., A.N.F.), Department of Gynecology and Obstetrics, Johns Hopkins Hospital, Baltimore, Maryland Department of Pathology (M.D.S.), INOVA Fairfax Hospital, Falls Church, Virginia Department of Pathology (K.J.P.), Memorial Sloan Kettering Cancer Center, New York, New York.
authors.forename: J Kenneth
authors.initials: JK
authors.lastname: Schoolmeester
authors.forename: Michael D
authors.initials: MD
authors.lastname: Stamatakos
authors.forename: Ann M
authors.initials: AM
authors.lastname: Moyer
authors.forename: Kay J
authors.initials: KJ
authors.lastname: Park
authors.forename: Melissa
authors.initials: M
authors.lastname: Fairbairn
authors.forename: Amanda N
authors.initials: AN
authors.lastname: Fader
mesh_terms: D000368:Aged; D014408:Biomarkers, Tumor / Q000235:genetics*; D002454:Cell Differentiation; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007890:Leiomyosarcoma / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D008080:Liposarcoma / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D009364:Neoplasm Recurrence, Local; D018235:Smooth Muscle Tumor / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D014594:Uterine Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D014599:Uterus / Q000473:pathology
chemical_list: D014408:Biomarkers, Tumor