Article
Next-generation sequencing reveals germline mutations in an infant with synchronous occurrence of nephro- and neuroblastoma.
Pediatric hematology and oncology - 1 May 2016
Theruvath Johanna, Russo Alexandra, Kron Bettina, Paret Claudia, Wingerter Arthur, El Malki Khalifa, Neu Marie A, Alt Francesca, Staatz Gundula, Stein Raimund, Seidmann Larissa, Prawitt Dirk, Faber Jörg
Abstract excerpt
Although neuro- and nephroblastoma are common solid tumors in children, the simultaneous occurrence is very rare and is often associated with syndromes. Here, we present a unique case of synchronous occurrence of neuro- and nephroblastoma in an infant with no signs of congenital anomalies or a syndrome. We performed genetic testing for possible candidate genes as underlying mutation using the next-generation...
Topics
- Anaplastic Lymphoma Kinase
- Fanconi Anemia Complementation Group D2 Protein
- Germ-Line Mutation
- High-Throughput Nucleotide Sequencing
- Humans
- Infant
- Kidney Neoplasms
- Male
- Neoplasms, Multiple Primary