Abstract
BackgroundSynovial sarcoma (SS) of the esophagus is extremely rare. Because of the microscopic features of SS, the monophasic type can easily be misdiagnosed as other spindle cell tumors. Here, we present the first case of a primary SS of the esophagus in the presence of SS18-SSX2 fusion transcripts.Case presentationA 47-year-old Japanese woman was initially diagnosed with thyroid papillary carcinoma in the left lobe and leiomyoma of the cervical esophagus and subsequently underwent left thyroid lobectomy and enucleation of the esophageal tumor. Four years after the first surgery, the esophageal tumor recurred. Endoscopic biopsy of the tumor revealed atypical cell proliferation with spindle cell features and mitoses. Immunohistochemistry showed focal positivity for bcl-2 and HHF35. Furthermore, the presence of SS18-SSX2 fusion transcripts was confirmed by reverse transcription-polymerase chain reaction analysis, using a paraffin-embedded tumor specimen. Therefore, the tumor was diagnosed as monophasic SS of the cervical esophagus. We re-evaluated the surgical specimen enucleated 3 years previously, which was initially diagnosed as leiomyoma, and the diagnosis of SS was confirmed. The patient underwent cervical esophagectomy with isolated jejunal interposition reconstruction. Three years after the second surgery, SS recurred in the distal anastomotic site between the jejunum and the esophagus, and the patient underwent thoracoscopic esophagectomy with gastric conduit reconstruction. The pathological grade of the lesion worsened with every recurrence.ConclusionsMonophasic SS can be difficult to discriminate from other spindle cell tumors based on microscopy alone, and molecular analysis could be useful for confirming the precise diagnosis of monophasic SS.
Highlights
Synovial sarcoma (SS) of the esophagus is extremely rare
Monophasic SS can be difficult to discriminate from other spindle cell tumors based on microscopy alone, and molecular analysis could be useful for confirming the precise diagnosis of monophasic SS
We report the first case of monophasic SS of the esophagus in the presence of SS18SSX2 fusion transcripts detected by reverse transcriptionpolymerase chain reaction (RT-PCR) analysis using a paraffin-embedded tumor specimen, which was originally misdiagnosed as leiomyoma
Summary
Synovial sarcoma (SS) is a soft tissue malignancy typically occurring in close proximity to the large joints of the extremities in young adults and with a male preponderance [1]. Case presentation A 47-year-old Japanese woman was referred to our hospital because of thyroid papillary carcinoma in the left lobe and esophageal submucosal tumor (SMT). All her laboratory data were within the normal ranges. Esophagoscopy showed a 50-mm-sized tumor, 18 cm from the incisor, covered with intact mucosa and located at the left wall of the cervical esophagus (Fig. 1a). The patient was initially diagnosed with thyroid papillary carcinoma and leiomyoma of the cervical esophagus and underwent left thyroid lobectomy and enucleation of the esophageal tumor. Esophagoscopy showed a 70-mmsized protruding tumor located at the left wall of the cervical esophagus 18 cm from the incisor (Fig. 2a). Three months after the surgery, she was free from tumor recurrence
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