2016
DOI: 10.1159/000458167
|View full text |Cite
|
Sign up to set email alerts
|

Genomic Characterization of a Metastatic Alveolar Rhabdomyosarcoma Case Using FISH Studies and CGH+SNP Microarray Revealing <b><i>FOXO1-PAX7</i></b> Rearrangement with <b><i>MYCN </i></b>and<b><i> MDM2</i></b> Amplification and <b><i>RB1</i></b> Region Loss

Abstract: Rhabdomyosarcomas (RMS) are rare, heterogeneous, soft tissue sarcomas and a common type of childhood malignancy with a distinct histomorphology. At the molecular level, alveolar rhabdomyosarcoma (ARMS), a subtype of RMS, harbors a signature genetic makeup characterized by specific translocations. The type of translocation and associated genetic aberrations correlate with disease progression, hence we used multiple molecular modalities including high-resolution array comparative genomic hybridization to explore… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1
1

Citation Types

0
2
0

Year Published

2017
2017
2025
2025

Publication Types

Select...
3

Relationship

0
3

Authors

Journals

citations
Cited by 3 publications
(2 citation statements)
references
References 32 publications
0
2
0
Order By: Relevance
“…This hypothesis is also supported by the fact that RMS-RR basally expressed higher levels of CDK1, a natural partner of both Cyclin A1 and B1, and upregulated after RT the expression of Cyclin B1, a strategic protein in the G 2 to M transition. Notably, a role seems to be suggested also for c-Myc and N-Myc oncogenes, known to be key regulators of the cell cycle [ 41 ] and respectively known to sustain the transformed phenotype of ERMS [ 42 , 43 ] and ARMS [ 44 , 45 ]. Herein, RD-RR basally expressed higher levels of c-Myc whilst RH30-RR up-regulated N-Myc expression after RT.…”
Section: Discussionmentioning
confidence: 99%
“…This hypothesis is also supported by the fact that RMS-RR basally expressed higher levels of CDK1, a natural partner of both Cyclin A1 and B1, and upregulated after RT the expression of Cyclin B1, a strategic protein in the G 2 to M transition. Notably, a role seems to be suggested also for c-Myc and N-Myc oncogenes, known to be key regulators of the cell cycle [ 41 ] and respectively known to sustain the transformed phenotype of ERMS [ 42 , 43 ] and ARMS [ 44 , 45 ]. Herein, RD-RR basally expressed higher levels of c-Myc whilst RH30-RR up-regulated N-Myc expression after RT.…”
Section: Discussionmentioning
confidence: 99%
“…Rhabdomyosarcoma (RMS) is a rare, highly malignant soft tissue sarcoma typically found in children (Karunamurthy et al, 2017). Alveolar rhabdomyosarcoma (ARMS) and †Contributed equally to this work *Corresponding authors (Lejian He, email lejianhe@sina.com; Xin Ni, email: nixin@bch.com.cn) embryonal rhabdomyosarcoma (ERMS) are the two major subtypes of RMS.…”
Section: Introductionmentioning
confidence: 99%