Primary intraosseous smooth muscle tumor of uncertain malignant potential: original report and molecular characterization

Rare Tumors

Gene P. Siegal⁴  Garrett M. Frampton⁵  Lauren Kropp²  Michael G. Rodriguez³  Svetlana McKee¹  Robert M. Conry¹ 

[1] Division of Hematology Oncology, University of Alabama at Birmingham, AL;Department of Radiation Oncology, University of Alabama at Birmingham, AL;Department of Radiology, University of Alabama at Birmingham, AL;Department of Anatomic Pathology, University of Alabama at Birmingham, AL;Foundation Medicine, Inc., Cambridge, MA

关键词: Bone;    Leiomyosarcoma;    STUMP;    Molecular characterization;    Chemotherapy;   

DOI  :  10.4081/rt.2016.6507

来源: PAGEPress Publications

【 摘 要 】

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 followup is warranted for this potentially life-threatening neoplasm.

【 授权许可】

Unknown