Cryptic insertion of 3'FOXO1 into inverted chromosome arm 2q in the presence of two normal 13's and 13 small interstitial duplications in a patient with alveolar rhabdomyosarcoma

2015-05-21 00:01:51

Cancer Genetics; 21 May 2015; DOI: 10.1016/j.cancergen.2015.05.028

Sarah Hackman, Laura Calvey, Kristen Bernreuter, Mengya Wang Mark, Sarah Starnes, Jacqueline R. Batanian


Alveolar rhabdomyosarcoma (ARMS) is a pediatric soft tissue neoplasm with a characteristic translocation, t(2;13)(q35;q14), detected in 70-80% of cases. This well-described translocation produces the gene fusion product PAX3-FOXO1. Cryptic rearrangements of this fusion have never been reported in ARMS. Here we describe a patient with ARMS that showed a cryptic insertion of 3'FOXO1 into inverted chromosome 2q by fluorescence in-situ hybridization ( FISH) and G-banded chromosomes. The inversion breakpoints were depicted as two small interstitial duplications by a-CGH and one involved the PAX3 gene. In addition, the array comparative genome hybridization (a-CGH) revealed 1q gain, 16q loss and 11 more small duplications with one of them involving FOXO1 gene. Although the pathogenesis in classic ARMS cases is thought to be driven by the 5'PAX3-3'FOXO1 fusion on derivative chromosome 13, here we report a novel cryptic insertion of 3'FOXO1 resulting in a pathogenic fusion with 5'PAX3 on inverted chromosome 2q.

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Key Words

Alveolar rhabdomyosarcoma | 3'FOXO1 | Cryptic Fusion