Aberrant CDK4 Amplification in Refractory Rhabdomyosarcoma as Identified by Genomic Profiling

• DOI: 10.1038/srep03623
• Publication Date: 2014-01-10T10:09:10Z
• Authors: Silvia Park; Jeeyun Lee; In-Gu Do; Jiryeon Jang; Kyoohyoung Rho; Seonjoo Ahn; Lira Maruja; Sung Joo Kim; Kyoung-Mee Kim; Mao Mao; Ensel Oh; Yu Jin Kim; Jhingook Kim; Yoon-La Choi
• Keywords: Sanger sequencing; Palbociclib; Primary tumor

Abstract Rhabdomyosarcoma (RMS) is the most commonly occurring type of soft tissue tumor in children. However, it rare adults and therefore, very little known about appropriate treatment strategy for adult RMS patients. We performed genomic analysis cells derived from a 27-year-old male patient whose disease was refractory to treatment. A peritoneal seeding nodule primary tumor, pleural metastases, malignant effusion ascites obtained during progression, were analyzed. Whole exome sequencing revealed 23 candidate variants 10 mutations validated by Sanger sequencing. Three present both metastatic tumors 3 detected only specimens. Comparative hybridization array prominent amplification 12q13–14 region more specifically, CDK4 proto-oncogene highly amplified. ALK overexpression observed at protein RNA levels. an fusion assay using NanoString technology failed show any rearrangements. Little genetic heterogeneity between cells. propose that , located 12q14, potential target drug development