Next-generation sequencing reveals germline mutations in an infant with synchronous occurrence of nephro- and neuroblastoma. (18th May 2016)

• Record Type: Journal Article
• 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
• Is Part Of: Pediatric hematology and oncology. Volume 33:Number 4(2016)
• Page Start: 264
• Page End: 275
• Publication Date: 2016-05-18
• Subjects: ALK -- FANCD2 -- nephroblastoma -- neuroblastoma -- next-generation sequencing -- predisposing genetic alterations -- wilms tumor; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Hematologic Diseases -- Child; Hematologic Diseases -- Infant; Neoplasms -- Child; 618.9215
• DOI: 10.1080/08880018.2016.1184362
• Languages: English
• ISSNs: 0888-0018

Abstract

ABSTRACT: 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.