Chromosomal translocation (1:13) in a case of alveolar rhabdomyosarcoma

J Pediatr Hematol Oncol. Jan-Feb 1998;20(1):86-7. doi: 10.1097/00043426-199801000-00015.

Abstract

Purpose: 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.

Patients and 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.

Conclusion: 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.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 13*
  • Female
  • Humans
  • Rhabdomyosarcoma, Alveolar / genetics*
  • Translocation, Genetic*