Late solitary bone metastasis of a primary pulmonary synovial sarcoma with SYT-SSX1 translocation type: case report with a long follow-up

• Published in: Virchows Archiv : an international journal of pathology 2005-03, Vol.446 (3), p.310-315
• Main Authors: BODE-LESNIEWSKA, B, HODLER, J, VON HOCHSTETTER, A, GUILLOU, L, EXNER, U, CADUFF, R
• Format: Article
• Language: English
• Subjects: Aged; Biological and medical sciences; Bone Neoplasms - genetics; Bone Neoplasms - pathology; Bone Neoplasms - secondary; Breast cancer; Diagnosis, Differential; Diagnostic Errors; Diseases of the osteoarticular system; Drug therapy; Female; Humans; Immunohistochemistry; Investigative techniques, diagnostic techniques (general aspects); Lung Neoplasms - genetics; Lung Neoplasms - pathology; Medical sciences; Oncogene Proteins, Fusion; Osteosarcoma - pathology; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques; Reverse Transcriptase Polymerase Chain Reaction; Sarcoma; Sarcoma, Synovial - genetics; Sarcoma, Synovial - pathology; Sarcoma, Synovial - secondary; Time Factors; Translocation; Translocation, Genetic; Tumors; Tumors of striated muscle and skeleton
• ISSN: 0945-6317; 1432-2307
• DOI: 10.1007/s00428-004-1174-2

Primary synovial sarcoma outside its classical presentation in para-articular soft tissue of young patients is rare but regularly reported. One of the rarest primary locations is the lung. We describe a 73-year-old female patient who presented with a solitary malignant bone tumor 8 years after the resection of a lung neoplasm. The bone tumor was classified as an osteosarcoma and the lung tumor as an atypical carcinoid tumor at their first respective diagnostic work-ups. The resection of the affected humerus with allograft and endoprosthesis implantation followed. Reevaluation of the tumor samples at the time of the local recurrence of the bone tumor 6 years following the initial symptoms of the bone tumor lead to the reclassification of both specimens as synovial sarcomas. Both neoplasms contained the SYT-SSX1 type of the diagnostic translocation t(X;18) as detected by the reverse-transcription polymerase chain reaction analysis. The patient died 14 years after the resection of the primary synovial sarcoma of the lung and 6 years following the occurrence of the bone metastasis. This prolonged clinical course is uncommon for the SYT-SSX1 translocation, which, in other locations, is usually associated with an unfavorable prognosis.