First case report of a fetal synovial sarcoma confirmed by molecular detection of SYT-SSX fusion gene transcripts.
Synovial sarcomas are aggressive malignant soft tissue tumors typically observed in adolescents and young adults. They are often characterized by the chromosomal translocation t(X;18)(p11.2;q11.2), which results in the expression of SYT-SSX fusion transcripts. We describe the first case of synovial sarcoma observed in a human fetus. The tumor occurred in the left upper arm and led to intrauterine fetal demise during gestational week 31. Grossly, the tumor measured 10 x 8 x 8 cm, appeared pinkish in color, and developed in the soft tissues of the left arm surrounding the humerus. Histologically, this large tumor showed a dense proliferation of homogeneous spindle cells with some necrotic areas. The positive detection of the SYT-SSX1 fusion transcripts with reverse-transcription polymerase chain reaction in formalin-fixed and paraffin-embedded tissue confirmed the synovial sarcoma diagnosis.
Duband
Sébastien
S
Department of Pathology, Saint-Etienne University Hospital Center, Bellevue Hospital, St-Etienne, France. sebastien.duband@chu-st-etienne.fr
Morrison
Alan L
AL
Pasquier
Dominique
D
Coindre
Jean-Michel
JM
Pasquier
Basile
B
Péoc'h
Michel
M
D000328:Adult; D001132:Arm; D014408:Biomarkers, Tumor / Q000235:genetics* / Q000378:metabolism; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D007633:Keratins / Q000378:metabolism; D015514:Oncogene Proteins, Fusion / Q000235:genetics* / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013584:Sarcoma, Synovial / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D012983:Soft Tissue Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D014178:Translocation, Genetic
D014408:Biomarkers, Tumor; D015514:Oncogene Proteins, Fusion; C116512:SYT-SSX fusion protein; D007633:Keratins