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Whole exome sequencing and copy number variation assay were performed to investigate genetic alterations in the two cases. No common somatic mutations or gene polymorphisms related to the tumorigenesis of neuroblastoma were detected. A distinct pattern involving both segmental chromosomal alteration and <jats:italic>MYCN<\/jats:italic> amplification was detected. The diversity of biological behavior of familial neuroblastoma harboring a germline <jats:italic>ALK<\/jats:italic> mutation may depend on conventional prognostic factors, such as segmental chromosomal alterations and <jats:italic>MYCN<\/jats:italic> amplification, rather than additional acquired mutations.<\/jats:p>","DOI":"10.1002\/gcc.22676","type":"journal-article","created":{"date-parts":[[2018,10,23]],"date-time":"2018-10-23T06:44:05Z","timestamp":1540277045000},"page":"665-669","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Two siblings with familial neuroblastoma with distinct clinical phenotypes harboring an <i>ALK<\/i> germline mutation"],"prefix":"10.1002","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8214-1787","authenticated-orcid":false,"given":"Ko","family":"Kudo","sequence":"first","affiliation":[{"name":"Department of Pediatrics Hirosaki University Graduate School of Medicine  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