Chromosomal translocation (1:13) in a case of alveolar rhabdomyosarcoma.
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.
Kenet
G
G
Pediatric Hemato-Oncology Department, The Chaim Sheba Medical Center, affiliated to the Sackler School of Medicine, Tel-Hashomer, Israel.
Sharon
N
N
Rosner
E
E
Toren
A
A
Neumann
Y
Y
Mandel
M
M
Kaplinsky
C
C
Gipsh
N
N
Berman
S
S
Rechavi
G
G
D002648:Child; D002878:Chromosomes, Human, Pair 1; D002882:Chromosomes, Human, Pair 13; D005260:Female; D006801:Humans; D018232:Rhabdomyosarcoma, Alveolar / Q000235:genetics*; D014178:Translocation, Genetic