Retroperitoneal infantile fibrosarcoma: clinical, molecular, and therapeutic aspects of an unusual tumor.
The authors describe a patient with a large retroperitoneal infantile fibrosarcoma that responded well to preoperative chemotherapy, which subsequently facilitated the complete surgical resection of the mass. The patient had an unusual site of metastasis presumed to be to a regional lymph node. The histology on initial core biopsies was not classic but showed a round cell, myxoid pattern. The presence of the t(12;15)(p13;q25) and the fusion transcript ETV6-NTRK3 by RTPCR facilitated the diagnosis.
Department of Pediatrics, Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada. raveena.ramphal@sickkids.ca
Raveena
R
Ramphal
David
D
Manson
Sandra
S
Viero
Maria
M
Zielenska
Ted
T
Gerstle
Alberto
A
Pappo
D005260:Female; D005354:Fibrosarcoma / Q000175:diagnosis* / Q000188:drug therapy / Q000601:surgery; D006801:Humans; D007223:Infant; D015514:Oncogene Proteins, Fusion / Q000032:analysis / Q000235:genetics; D012186:Retroperitoneal Neoplasms / Q000175:diagnosis* / Q000188:drug therapy / Q000601:surgery; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D014178:Translocation, Genetic; D020812:Receptor, trkC; D000097764:ETS Translocation Variant 6 Protein
D015514:Oncogene Proteins, Fusion; C484319:ETV6-NTRK3 fusion protein, human; D020812:Receptor, trkC; D000097764:ETS Translocation Variant 6 Protein