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Genetic diagnosis of alveolar rhabdomyosarcoma in the bone marrow of a patient without evidence of primary tumor
Author(s) -
Lisboa Susana,
Cerveira Nuno,
Vieira Joana,
Torres Lurdes,
Ferreira Ana Maia,
Afonso Mariana,
Norton Lucília,
Henrique Rui,
Teixeira Manuel R.
Publication year - 2008
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.21646
Subject(s) - alveolar rhabdomyosarcoma , medicine , fusion gene , rhabdomyosarcoma , pathognomonic , bone marrow , pathology , biopsy , cancer research , lytic cycle , gene , sarcoma , biology , immunology , genetics , disease , virus
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. Pediatr Blood Cancer 2008;51:554–557. © 2008 Wiley‐Liss, Inc.