The t(11;22) and t(21;22) translocations that are specific for Ewing's
tumor are responsible for production of chimeric transcripts between
the EWS gene on chromosome 22 and the FLI-1 or ERG gene on chromosome
11 or 21, The development of molecular biology methods capable of dete
cting these composites have added to the diagnosis of Ewing's sarcoma.
The specific marker can be identified in sites other than the primary
, providing the opportunity for studying incipient lesions, Ewing's sa
rcoma cells were looked for in blood and/or bone marrow specimens from
46 patients in whom a specific composite had been detected in the pri
mary. At diagnosis, 16 of 44 patients had tumor cells in their bloodst
ream and 14 of 31 had micrometastases in their bone marrow, Presence o
f tumor cells in the bone marrow, but not in the blood-stream, was ass
ociated with a greater likelihood of severe metastatic disease. In all
the patients who were tested before and after chemotherapy, the blood
tests reverted to negative after chemotherapy, and this effect was no
t influenced by the quality of the response of the primary to the trea
tment. In contrast, patients with positive bone marrow tests after che
motherapy were more likely to have a poor response of their primary. B
one marrow testing for Ewing's cells at diagnosis and during therapy m
ay add substantially to the staging and follow-up of patients with Ewi
ng's sarcoma.