Genetic diagnosis of alveolar rhabdomyosarcoma in the bone marrow of a patient without evidence of primary tumor.
Alveolar rhabdomyosarcoma (ARMS) is characterized by two pathognomonic translocations, both involving the FOXO1 gene. We describe a case of a 10-year-old child with multiple lytic lesions involving all the vertebral bodies, sternum and femur and a bone marrow biopsy compatible with a small round cell neoplasia, but no evidence of a primary tumor. Interphase FISH analysis with specific probes evidenced a rearrangement involving the FOXO1 gene and RT-PCR identified the PAX7-FOXO1 fusion transcript. These data show a case of ARMS with no evidence of primary tumor presenting the PAX7-FOXO1 fusion gene.
Lisboa
Susana
S
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal.
Cerveira
Nuno
N
Vieira
Joana
J
Torres
Lurdes
L
Ferreira
Ana Maia
AM
Afonso
Mariana
M
Norton
Lucília
L
Henrique
Rui
R
Teixeira
Manuel R
MR
D001706:Biopsy; D019046:Bone Marrow Neoplasms / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism / Q000601:surgery; D048430:Cell Shape; D002648:Child; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D018232:Rhabdomyosarcoma, Alveolar / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism / Q000601:surgery