{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T08:40:01Z","timestamp":1756284001617,"version":"3.44.0"},"reference-count":12,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2018,8,22]]},"abstract":"<jats:p>Neuroblastoma is one of the most common paediatric malignancies. Detection of somatic genetic alterations in this tumour is instrumental for its risk stratification and treatment. On the other hand, an absence of detected chromosomal imbalances in neuroblastoma biopsies is difficult to interpret because it is unclear whether this situation truly reflects the tumour genome or if it is due to suboptimal sampling. We here present a neuroblastoma in the left adrenal of a newborn. The tumour was subjected to single-nucleotide polymorphism array analysis of five tumour regions with &gt;80%\u2009tumour cells in histological mirror sections. This revealed no aberrations compared with a normal reference sample from the patient. Whole exome sequencing identified two single-nucleotide variants present in most tumour regions, corroborating that the tumour resulted from monoclonal expansion. Our data provide proof-of-principle that rare cases of neuroblastoma can have a normal whole genome copy number and allelic profile.<\/jats:p>","DOI":"10.1136\/bcr-2018-225568","type":"journal-article","created":{"date-parts":[[2018,9,8]],"date-time":"2018-09-08T05:35:30Z","timestamp":1536384930000},"page":"bcr-2018-225568","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Neuroblastoma with flat genomic profile: a question of representativity?"],"prefix":"10.1136","volume":"2018","author":[{"given":"Anders","family":"Valind","sequence":"first","affiliation":[{"name":"Division of Clinical Genetics, Lunds Universitet, Lund, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3931-4125","authenticated-orcid":false,"given":"Ingrid","family":"\u00d6ra","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Lunds Universitet, Lund, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fredrik","family":"Mertens","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Lunds Universitet, Lund, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0301-426X","authenticated-orcid":false,"given":"David","family":"Gisselsson","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Lunds Universitet, Lund, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2018,9,8]]},"reference":[{"key":"2025082701173421000_2018.sep07_1.bcr-2018-225568.1","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/j.pedneo.2015.08.007","article-title":"Solid cancers in the premature and the newborn: report of three national referral centers","volume":"57","author":"Raciborska","year":"2016","journal-title":"Pediatr Neonatol"},{"doi-asserted-by":"publisher","key":"2025082701173421000_2018.sep07_1.bcr-2018-225568.2","DOI":"10.1038\/nrc3679"},{"doi-asserted-by":"publisher","key":"2025082701173421000_2018.sep07_1.bcr-2018-225568.3","DOI":"10.1038\/305245a0"},{"doi-asserted-by":"publisher","key":"2025082701173421000_2018.sep07_1.bcr-2018-225568.4","DOI":"10.1126\/science.6719137"},{"doi-asserted-by":"publisher","key":"2025082701173421000_2018.sep07_1.bcr-2018-225568.5","DOI":"10.1002\/cncr.29706"},{"doi-asserted-by":"publisher","key":"2025082701173421000_2018.sep07_1.bcr-2018-225568.6","DOI":"10.1038\/leu.2015.32"},{"doi-asserted-by":"publisher","key":"2025082701173421000_2018.sep07_1.bcr-2018-225568.7","DOI":"10.1016\/j.ejca.2005.11.031"},{"doi-asserted-by":"publisher","key":"2025082701173421000_2018.sep07_1.bcr-2018-225568.8","DOI":"10.1038\/ncomms7125"},{"key":"2025082701173421000_2018.sep07_1.bcr-2018-225568.9","doi-asserted-by":"crossref","first-page":"23500","DOI":"10.1038\/srep23500","article-title":"The fetal thymus has a unique genomic copy number profile resulting from physiological T cell receptor gene rearrangement","volume":"6","author":"Valind","year":"2016","journal-title":"Sci Rep"},{"key":"2025082701173421000_2018.sep07_1.bcr-2018-225568.10","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1038\/s41588-018-0131-y","article-title":"Four evolutionary trajectories underlie genetic intratumoral variation in childhood cancer","volume":"50","author":"Karlsson","year":"2018","journal-title":"Nat Genet"},{"key":"2025082701173421000_2018.sep07_1.bcr-2018-225568.11","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1002\/pbc.26006","article-title":"Neonatal solid tumors: incidence and survival in France","volume":"63","author":"Desandes","year":"2016","journal-title":"Pediatr Blood Cancer"},{"doi-asserted-by":"publisher","key":"2025082701173421000_2018.sep07_1.bcr-2018-225568.12","DOI":"10.1038\/nature10910"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2018-225568","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T08:17:44Z","timestamp":1756282664000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2018-225568"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9,8]]},"references-count":12,"alternative-id":["10.1136\/bcr-2018-225568"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2018-225568","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2018,9,8]]}}}