Journal article
FOXO1-FGFR1 fusion and amplification in a solid variant of alveolar rhabdomyosarcoma
Modern pathology, v 24(10), pp 1327-1335
01 Oct 2011
PMID: 21666686
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Rhabdomyosarcoma is the most common pediatric soft tissue malignancy. Two major subtypes, alveolar rhabdomyosarcoma and embryonal rhabdomyosarcoma, constitute 20 and 60% of all cases, respectively. Approximately 80% of alveolar rhabdomyosarcoma carry two signature chromosomal translocations, t(2;13)(q35;q14) resulting in PAX3-FOXO1 fusion, and t(1; 13)(p36;q14) resulting in PAX7-FOXO1 fusion. Whether the remaining cases are truly negative for gene fusion has been questioned. We are reporting the case of a 9-month-old girl with a metastatic neck mass diagnosed histologically as solid variant alveolar rhabdomyosarcoma. Chromosome analysis showed a t(8;13;9)(p11.2;q14;9q32) three-way translocation as the sole clonal aberration. Fluorescent in situ hybridization (FISH) demonstrated a rearrangement at the FOXO1 locus and an amplification of its centromeric region. Single-nucleotide polymorphism-based microarray analysis illustrated a co-amplification of the FOXO1 gene at 13q14 and the FGFR1 gene at 8p12p11.2, suggesting formation and amplification of a chimerical FOXO1-FGFR1 gene. This is the first report to identify a novel fusion partner FGFR1 for the known anchor gene FOXO1 in alveolar rhabdomyosarcoma. Modern Pathology (2011) 24, 1327-1335; doi: 10.1038/modpathol.2011.98; published online 10 June 2011
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Details
- Title
- FOXO1-FGFR1 fusion and amplification in a solid variant of alveolar rhabdomyosarcoma
- Creators
- Jinglan Liu - Drexel UniversityMiguel A. Guzman - Drexel UniversityDonna Pezanowski - St. Christopher's Hospital for ChildrenDilipkumar Patel - St. Christopher's Hospital for ChildrenJohn Hauptman - St. Christopher's Hospital for ChildrenMatthew Keisling - Hahnemann University HospitalSteve J. Hou - Drexel UniversityPeter R. Papenhausen - Research Triangle Park FoundationJudy M. Pascasio - Drexel UniversityHope H. Punnett - Temple UniversityGregory E. Halligan - Drexel UniversityJean-Pierre de Chadarevian - Drexel University
- Publication Details
- Modern pathology, v 24(10), pp 1327-1335
- Publisher
- Springer Nature
- Number of pages
- 9
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pediatrics; Pathology (and Laboratory Medicine)
- Web of Science ID
- WOS:000295482200006
- Scopus ID
- 2-s2.0-80053560214
- Other Identifier
- 991019168964804721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Pathology