Chromosomal translocation (1:13) in a case of alveolar rhabdomyosarcoma.
Paraules clau
Resum
OBJECTIVE
To describe a patient with a variant translocation (1;13)(p36;q14) in an alveolar rhabdomyosarcoma and compare the clinical course with four other cases.
METHODS
A 10-year-old girl presented with multiple masses involving the thigh, abdomen, chest wall, and scalp with pleural effusion and edema of the lower extremities.
RESULTS
A bone marrow biopsy, aspirate, and biopsy of the thigh mass all showed tumor invasion. Histopathology and cytogenetics of the thigh mass revealed an alveolar rhabdomyosarcoma with a t(1;13)(p36q14) variant. There was no response to aggressive therapy and the patient died within 3 weeks of admission.
CONCLUSIONS
Variant t(1;13)(p36;q14) has now been described in 5 cases of rhabdomyosarcoma, and may define a subset of patients with extensive disease at diagnosis unresponsive to current therapeutic modalities.
