title: Primary Intraosseous Smooth Muscle Tumor of Uncertain Malignant Potential: Original Report and Molecular Characterization.
abstract: We report the first case of primary intraosseous smooth muscle tumor of uncertain malignant potential (STUMP) which is analogous to borderline malignant uterine smooth muscle tumors so designated. The tumor presented in the femur of an otherwise healthy 30-year-old woman. Over a 3-year period, the patient underwent 11 biopsies or resections and 2 cytologic procedures. Multiple pathologists reviewed the histologic material including musculoskeletal pathologists but could not reach a definitive diagnosis. However, metastases eventually developed and were rapidly progressive and responsive to gemcitabine and docetaxel. Molecular characterization and ultrastructural analysis was consistent with smooth muscle origin, and amplification of unmutated chromosome 12p and 12q segments appears to be the major genomic driver of this tumor. Primary intraosseous STUMP is thought to be genetically related to leiomyosarcoma of bone, but likely representing an earlier stage of carcinogenesis. Wide excision and aggressive follow-up is warranted for this potentially life-threatening neoplasm.
authors.affiliation: Department of Radiation Oncology and Anatomic Pathology, University of Alabama at Birmingham , AL.
authors.forename: Lauren
authors.initials: L
authors.lastname: Kropp
authors.affiliation: Department of Anatomic Pathology, University of Alabama at Birmingham , AL.
authors.forename: Gene P
authors.initials: GP
authors.lastname: Siegal
authors.affiliation: Foundation Medicine, Inc. , Cambridge, MA.
authors.forename: Garrett M
authors.initials: GM
authors.lastname: Frampton
authors.affiliation: Department of Radiology and Hematology Oncology, University of Alabama at Birmingham , AL, USA.
authors.forename: Michael G
authors.initials: MG
authors.lastname: Rodriguez
authors.affiliation: Division of Hematology Oncology, University of Alabama at Birmingham , AL, USA.
authors.forename: Svetlana
authors.initials: S
authors.lastname: McKee
authors.affiliation: Division of Hematology Oncology, University of Alabama at Birmingham , AL, USA.
authors.forename: Robert M
authors.initials: RM
authors.lastname: Conry
keywords: Bone; Chemotherapy; Leiomyosarcoma; Molecular characterization; STUMP