Next-generation sequencing reveals germline mutations in an infant with synchronous occurrence of nephro- and neuroblastoma

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 syndr...

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Published in:Pediatric hematology and oncology 2016-05, Vol.33 (4), p.264-275
Main Authors: 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
Format: Article
Language:English
Subjects:
ALK
FANCD2
Fanconi Anemia Complementation Group D2 Protein - genetics
Germ-Line Mutation
High-Throughput Nucleotide Sequencing
Humans
Infant
Kidney Neoplasms - genetics
Kidney Neoplasms - therapy
Male
Neoplasms, Multiple Primary - genetics
Neoplasms, Multiple Primary - therapy
nephroblastoma
neuroblastoma
Neuroblastoma - genetics
Neuroblastoma - therapy
next-generation sequencing
Polymorphism, Single Nucleotide
predisposing genetic alterations
Receptor Protein-Tyrosine Kinases - genetics
wilms tumor
Wilms Tumor - genetics
Wilms Tumor - therapy
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Summary: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 sequencing (NGS) approach to target 94 genes and 284 single-nucleotide polymorphisms (SNPs) involved in cancer. We uncovered a novel heterozygous germline missense mutation p.F58L (c.172T→C) in the anaplastic lymphoma kinase (ALK) gene and one novel heterozygous rearrangement Q418Hfs * 11 (c.1254_1264delins TTACTTAGTACAAGAACTG) in the Fanconi anemia gene FANCD2 leading to a truncated protein. Besides, several SNPs associated with the occurrence of neuroblastoma and/or nephroblastoma or multiple primary tumors were identified. The next-generation sequencing approach might in the future be useful not only in understanding tumor etiology but also in recognizing new genetic markers and targets for future personalized therapy.
ISSN:0888-0018
1521-0669
DOI:10.1080/08880018.2016.1184362