title: Genomic Characterization of Poorly Differentiated Neuroendocrine Carcinoma in a Pediatric Patient.
abstract: Primary neuroendocrine carcinomas (NEC) are rare tumors in children and young adults, resulting in a lack of standardized treatment approach. To refine the molecular taxonomy of these rare tumors, we performed whole exome sequencing in a pediatric patient with mediastinal NEC. We identified a somatic mutation in HRAS gene and LOH regions in NF2, MYO18B, and RUX3 genes. In addition, a germline heterozygous somatic variant in BRCA2 with LOH at that same position in the tumor tissue was also found. Our data provide valuable insight into the genomic landscape of this tumor, prompting further investigation of therapeutic targets.
authors.affiliation: *Perlmutter Cancer Center at NYU, New York University Langone Medical Center †Department of Pathology, Ichan School of Medicine at Mount Sinai, New York, NY.
authors.forename: Teena
authors.initials: T
authors.lastname: Bhatla
authors.forename: Smita
authors.initials: S
authors.lastname: Dandekar
authors.forename: Benjamin Y
authors.initials: BY
authors.lastname: Lu
authors.forename: Jinhua
authors.initials: J
authors.lastname: Wang
authors.forename: Eugenia
authors.initials: E
authors.lastname: Han
authors.forename: Danielle
authors.initials: D
authors.lastname: Bitterman
authors.forename: Courtney L
authors.initials: CL
authors.lastname: Jones
authors.forename: Nikki A
authors.initials: NA
authors.lastname: Evensen
authors.forename: Margret
authors.initials: M
authors.lastname: Magid
authors.forename: Julia A
authors.initials: JA
authors.lastname: Meyer
authors.forename: William L
authors.initials: WL
authors.lastname: Carroll
mesh_terms: D018278:Carcinoma, Neuroendocrine / Q000235:genetics*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D015894:Genome, Human; D006801:Humans; D008479:Mediastinal Neoplasms / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction