Alveolar rhabdomyosarcoma: origin and prognostic implications of molecular findings / Rabdomiosarcoma alveolar: origen de los hallazgos moleculares e implicaciones pronósticas

Abstract: We present the case of a 2-year-old male patient with a facial tumor partially treated with chemotherapy before his admission to our institution. The tumor involved from the frontal region to the maxillary floor, the orbit, and the maxillary and sphenoid sinuses. The histopathological diagnosis revealed a stage IV alveolar rhabdomyosarcoma with infiltration to bone marrow and cerebrospinal fluid. He was managed with four cycles of adriamycin, actinomycin, cyclophosphamide and vincristine; cisplatin and irinotecan were added to the last cycle. The tumor had a 50% size reduction, but the patient died after a neutropenia and fever episode. The aggressive behavior of alveolar rhabdomyosarcoma has been associated with the expression of oncogenic fusion proteins resulting from chromosomal translocations, particularly t(2;13) (q35;q14) PAX3/FOXO1, and t(1;13) (p36;q14) PAX7/FOXO1 which were present in this patient.

Resumen: Se presenta el caso de un niño de dos años de edad con un tumor facial tratado parcialmente con quimioterapia anterior a su admisión en este hospital. El tumor abarcaba desde la región frontal hasta el piso maxilar, la órbita y los senos esfenoidales y maxilares. El diagnóstico histopatológico reveló un rabdomiosarcoma alveolar estadio IV con infiltración a la médula ósea y fluido cerebroespinal. El paciente fue tratado con cuatro ciclos de adriamicina, actinomicina, ciclofosfamida y vincristina; al último ciclo se añadieron cisplatino e irinotecan. El tumor se redujo en 50% de su tamaño, pero el paciente murió tras un episodio febril y neutropénico. La agresividad del rabdomiosarcoma alveolar se ha asociado con la expresión de proteínas oncogénicas de fusión provenientes de translocaciones cromosomales, particularmente t(2;13) (q35;q14) PAX3/FOXO1 y t(1;13) (p36;q14) PAX7/FOXO1, presentes en este paciente.

Alveolar rhabdomyosarcoma: origin and prognostic implications of molecular findings.

We present the case of a 2-year-old male patient with a facial tumor partially treated with chemotherapy before his admission to our institution. The tumor involved from the frontal region to the maxillary floor, the orbit, and the maxillary and sphenoid sinuses. The histopathological diagnosis revealed a stage IV alveolar rhabdomyosarcoma with infiltration to bone marrow and cerebrospinal fluid. He was managed with four cycles of adriamycin, actinomycin, cyclophosphamide and vincristine; cisplatin and irinotecan were added to the last cycle. The tumor had a 50% size reduction, but the patient died after a neutropenia and fever episode. The aggressive behavior of alveolar rhabdomyosarcoma has been associated with the expression of oncogenic fusion proteins resulting from chromosomal translocations, particularly t(2;13) (q35;q14) PAX3/FOXO1, and t(1;13) (p36;q14) PAX7/FOXO1 which were present in this patient.