Characterization of giant marker and ring chromosomes in a pleomorphic             leiomyosarcoma of soft tissue by spectral karyotyping.
Pleomorphic leiomyosarcoma of soft tissue is relatively rare and its cytogenetic             and molecular genetic data are scarce. We present a case of pleomorphic leiomyosarcoma             arising in the left thigh of a 60-year-old man. Fluorine-18-deoxyglucose positron             emission tomography imaging showed a homogenously high uptake within the mass             in the proximal left thigh (maximum standardized uptake value, 20.9). Following             a core needle biopsy, wide resection of the tumor was performed. Histologically,             the tumor was composed of a mixture of spindle cells, polygonal cells and bizarre             giant cells forming interlacing bundles and a storiform pattern. Immunohistochemically,             the tumor cells were positive for vimentin, smooth muscle actin and desmin. The             MIB-1 labeling index was 19.7% in the highest spot. Cytogenetic analysis exhibited             a complex karyotype with several numerical and structural alterations, including             giant marker and ring chromosomes. Spectral karyotyping demonstrated that giant             marker and ring chromosomes were composed of material from the X chromosome. Metaphase-based             comparative genomic hybridization analysis showed high-level amplifications of             1q21-q25 and 12q13-q21 and gains of 1p31-p32, 10p11-p13, 17p11 and 19p13. The             patient received postoperative adjuvant radiotherapy and doxorubicin-based chemotherapy.             No local recurrence or distant metastasis was detected during a follow-up period             of 19 months. The clinicopathological, cytogenetic and molecular genetic features             of pleomorphic soft tissue leiomyosarcoma are discussed.
Department of Orthopaedic Surgery, Faculty of Medicine, Fukuoka University, Fukuoka, Japan. jnishio@cis.fukuoka-u.ac.jp
Jun
J
Nishio
Mikiko
M
Aoki
Kazuki
K
Nabeshima
Hiroshi
H
Iwasaki
Masatoshi
M
Naito
D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics; D002869:Chromosome Aberrations; D002877:Chromosomes, Human; D020732:Cytogenetic Analysis; D006801:Humans; D007890:Leiomyosarcoma / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D008297:Male; D008875:Middle Aged; D011877:Radionuclide Imaging; D012983:Soft Tissue Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D032681:Spectral Karyotyping / Q000379:methods*; D013848:Thigh / Q000473:pathology
D014408:Biomarkers, Tumor