Non-resectable congenital tumors with the ETV6-NTRK3 gene fusion are highly responsive to chemotherapy.
BACKGROUND
Recently, the ETV6-NTRK3 gene fusion has been identified in both infantile fibrosarcoma and cellular mesoblastic nephroma. For both these tumors standard curative treatment has been primarily surgical with wide local excision. This has frequently involved radical and even mutilating surgery.


METHODS
This report discusses three infants with congenital tumors, two congenital fibrosarcomas, and one atypical congenital mesoblastic nephroma, not easily amenable to surgical intervention.


RESULTS
All three were treated with pre-operative chemotherapy with excellent responses negating the need for amputation in two patients. In each patient, the ETV6-NTRK3 gene fusion was identified by reverse transcriptase-polymerase chain reaction (RT-PCR) in the tumor specimens.


CONCLUSIONS
Our findings suggest that the ETV6-NTRK3 gene fusion may underlie the distinctive biological properties of these tumors and may also indicate tumor chemosensitivity. In this group of patients pre-operative chemotherapy may abrogate the need for morbid surgical procedures.
McCahon
Emma
E
Oncology Department, The Children's Hospital Westmead, New South Wales, Australia.
Sorensen
Poul H B
PH
Davis
Jeff H
JH
Rogers
Paul C J
PC
Schultz
Kirk R
KR
D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005354:Fibrosarcoma / Q000151:congenital* / Q000188:drug therapy / Q000235:genetics; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D007680:Kidney Neoplasms / Q000151:congenital* / Q000188:drug therapy / Q000235:genetics; D008297:Male; D018201:Nephroma, Mesoblastic / Q000151:congenital* / Q000188:drug therapy / Q000235:genetics; D050783:Proto-Oncogene Proteins c-ets; D020812:Receptor, trkC / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D012983:Soft Tissue Neoplasms / Q000151:congenital* / Q000188:drug therapy / Q000235:genetics; D014178:Translocation, Genetic; D000097764:ETS Translocation Variant 6 Protein
D004268:DNA-Binding Proteins; D005819:Genetic Markers; D050783:Proto-Oncogene Proteins c-ets; D020812:Receptor, trkC; D012097:Repressor Proteins; D000097764:ETS Translocation Variant 6 Protein