The genetic factors involved in development of neuroblastoma are not yet well understood. The most common somatic genomic alterations in neuroblastomas are recurrent chromosomal copy number alterations. In addition a number of genes with germline mutations commonpolymorphisms have been identified that raise the risk of developing neuroblastoma, it is unclear what role they play. With this aim, we investigated the syndromes, diseases and abnormalities accompanying our neuroblastoma patients.

Case report

The files of patients with neuroblastoma in Ankara Dışkapı Children's Hospital, Ankara Oncology Hospital, and Ankara City Hospital between 1993 and 2023 were retrospectively analyzed. Data collected from the files included the age, sex, pathological findings, physical examination findings, imaging findings and follow-up time.

The files of 194 patients diagnosed with neuroblastoma were retrospectively evaluated, and distinct abnormalities and syndromes were noted in 11 patients (0.56%). The patient characteristics were presented in the Table1. Heterochromia have been known in association with NB. Neuroblastomas are rare per se in the setting of NF1 (0.2% of all NBs) and even if compared to the overall frequency of malignancies in NF1 (i.e., 14.7%). Paraneoplastic syndromes including opsoclonus-myoclonus-ataxia syndro

Here we report on a new patient with Kabuki syndrome and a germline variant in KMT2D who developed a neuroblastoma. Including our patient literature review identifed 19 patients with Kabuki syndrome and a malignancy. Although we found no strong arguments pointing towards KS as a tumor predisposition syndrome, based on the small numbers any relation cannot be fully excluded. As the genetics of neuroblastoma become understood in syndromic patients, steps towards intervention may be successful.