Genetic diagnosis of alveolar rhabdomyosarcoma in the bone marrow of a patient without evidence of primary tumor | Zendy

Lisboa Susana | Zendy; Cerveira Nuno | Zendy; Vieira Joana | Zendy; Torres Lurdes | Zendy; Ferreira Ana Maia | Zendy; Afonso Mariana | Zendy; Norton Lucília | Zendy; Henrique Rui | Zendy; Teixeira Manuel R. | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Premium

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.

This content is not available in your region!

Continue researching here.

Having issues? You can contact us here

Accelerating Research