{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T10:02:34Z","timestamp":1789552954856,"version":"build-2803163510"},"reference-count":19,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T00:00:00Z","timestamp":1789516800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurol. Int.","Neurology International"],"abstract":"<jats:p>Background: Neuroblastoma is the most common extracranial solid tumor in infancy and demonstrates marked clinical heterogeneity. To our knowledge, this is one of the very few reported cases of neonatal neuroblastoma associated with genetically confirmed achondroplasia and an additional SDHA variant. Case Presentation: We describe a male neonate with a prenatally detected right-sided suprarenal mass and skeletal abnormalities suggestive of achondroplasia. Postnatal evaluation was consistent with localized neuroblastoma, which was classified as low risk according to the available clinical documentation. Despite the initially favorable clinical risk profile, the tumor showed unexpected progression after initial chemotherapy, requiring treatment intensification and subsequent surgical resection. Next-generation sequencing identified a pathogenic FGFR3 c.1138G&gt;A (p.Gly380Arg) variant confirming achondroplasia and an SDHA c.704T&gt;C (p.Ile235Thr) variant of uncertain significance. At follow-up, the patient remained free of disease recurrence. Conclusions: This case expands the limited evidence on the coexistence of neonatal neuroblastoma and achondroplasia and highlights the potential value of comprehensive genomic testing in patients with atypical clinical behavior. It also demonstrates that an initially favorable clinical risk profile does not invariably predict subsequent disease behavior, emphasizing the importance of integrating clinical, radiological, and molecular findings in individualized patient management.<\/jats:p>","DOI":"10.3390\/neurolint18090175","type":"journal-article","created":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T07:58:59Z","timestamp":1789545539000},"page":"175","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatally Detected Neonatal Neuroblastoma Associated with Achondroplasia and an SDHA Variant"],"prefix":"10.3390","volume":"18","author":[{"given":"Penka","family":"Petleshkova","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Medical University of Plovdiv, 4002 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nevena","family":"Anesteva-Ivanova","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Medical University of Plovdiv, 4002 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maya","family":"Krasteva","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Medical University of Plovdiv, 4002 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikoleta","family":"Parahuleva","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Medical University of Plovdiv, 4002 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8831-3957","authenticated-orcid":false,"given":"Atanas","family":"Ivanov","sequence":"additional","affiliation":[{"name":"Department of Urology and General Medicine, Medical University of Plovdiv, 4002 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hristo","family":"Ivanov","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Medical Genetics, Faculty of Medicine, Medical University of Plovdiv, 4002 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7674-6074","authenticated-orcid":false,"given":"Anna","family":"Mihaylova","sequence":"additional","affiliation":[{"name":"Department of Healthcare Management, Faculty of Public Health, Medical University of Plovdiv, 4002 Plovdiv, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,9,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2202","DOI":"10.1056\/NEJMra0804577","article-title":"Recent advances in neuroblastoma","volume":"362","author":"Maris","year":"2010","journal-title":"N. Engl. J. Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.cancergen.2011.03.001","article-title":"Advances in the understanding of constitutional and somatic genomic alterations in neuroblastoma","volume":"204","author":"Deyell","year":"2011","journal-title":"Cancer Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1200\/JCO.2008.16.6876","article-title":"The International Neuroblastoma Risk Group (INRG) staging system: An INRG Task Force report","volume":"27","author":"Monclair","year":"2009","journal-title":"J. Clin. Oncol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"407","DOI":"10.5468\/ogs.2016.59.5.407","article-title":"Fetal neuroblastoma: Ultrasonography and magnetic resonance imaging findings in the prenatal and postnatal IV-S stage","volume":"59","author":"Werner","year":"2016","journal-title":"Obstet. Gynecol. Sci."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"e04426004","DOI":"10.5603\/mrj.106997","article-title":"The coexistence of achondroplasia and congenital neuroblastoma: Case report","volume":"11","author":"Nogaj","year":"2026","journal-title":"Med. Res. J."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"a002584","DOI":"10.1101\/mcs.a002584","article-title":"Germline SDHA mutations in children and adults with cancer","volume":"4","author":"Mandelker","year":"2018","journal-title":"Cold Spring Harb. Mol. Case Stud."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"2336","DOI":"10.1056\/NEJMoa1508054","article-title":"Germline mutations in predisposition genes in pediatric cancer","volume":"373","author":"Zhang","year":"2015","journal-title":"N. Engl. J. Med."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"2231","DOI":"10.1093\/hmg\/ddi227","article-title":"Accumulation of Krebs cycle intermediates and over-expression of HIF1\u03b1 in tumours which result from germline FH and SDH mutations","volume":"14","author":"Pollard","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"53819","DOI":"10.18632\/oncotarget.17734","article-title":"Succinate: An initiator in tumorigenesis and progression","volume":"8","author":"Zhao","year":"2017","journal-title":"Oncotarget"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1111\/his.13277","article-title":"Succinate dehydrogenase (SDH)-deficient neoplasia","volume":"72","author":"Gill","year":"2018","journal-title":"Histopathology"},{"key":"ref_11","first-page":"359","article-title":"Neuroblastome retroperitoneal diagnostique in utero","volume":"64","author":"Deville","year":"1983","journal-title":"J. Radiol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1002\/(SICI)1097-0142(19970715)80:2<304::AID-CNCR19>3.0.CO;2-Y","article-title":"Prenatally diagnosed neuroblastoma","volume":"80","author":"Acharya","year":"1997","journal-title":"Cancer"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/S0022-3468(00)80020-2","article-title":"Features and outcome of neuroblastoma detected before birth","volume":"35","author":"Granata","year":"2000","journal-title":"J. Pediatr. Surg."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"2474","DOI":"10.1002\/cncr.10502","article-title":"Outcome of suprarenal localized masses diagnosed during the perinatal period: A retrospective multicenter study","volume":"94","author":"Sauvat","year":"2002","journal-title":"Cancer"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1466","DOI":"10.1200\/JCO.1993.11.8.1466","article-title":"Revisions of the international criteria for neuroblastoma diagnosis, staging, and response to treatment","volume":"11","author":"Brodeur","year":"1993","journal-title":"J. Clin. Oncol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1097\/00043426-200005000-00003","article-title":"Natural history and biology of stage 4S neuroblastoma: A Pediatric Oncology Group study","volume":"22","author":"Alvarado","year":"2000","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1002\/humu.21636","article-title":"Sixteen years and counting: The current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias","volume":"33","author":"Wilcox","year":"2012","journal-title":"Hum. Mutat."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1002\/mgg3.96","article-title":"FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry","volume":"2","author":"Xue","year":"2014","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_19","unstructured":"Adam, M.P., Feldman, J., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Gripp, K.W., and Amemiya, A. (2018). Hereditary Paraganglioma-Pheochromocytoma Syndromes. GeneReviews\u00ae, University of Washington."}],"container-title":["Neurology International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2035-8377\/18\/9\/175\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T09:06:41Z","timestamp":1789549601000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2035-8377\/18\/9\/175"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,16]]},"references-count":19,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2026,9]]}},"alternative-id":["neurolint18090175"],"URL":"https:\/\/doi.org\/10.3390\/neurolint18090175","relation":{},"ISSN":["2035-8377"],"issn-type":[{"value":"2035-8377","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,16]]}}}