Tumours involving the neural foramina in children: beyond neuroblastoma.

AIM: To characterise tumours that involve the neural foramina in children, including prevalence, demographics, and imaging features. MATERIAL AND METHODS: This retrospective single-centre study comprised 36 boys and 34 girls who presented with spinal or paraspinal lesions involving the neural foramina. Two certified radiologists reviewed the imaging features, including the level of spinal involvement, the number of involved foramina, foraminal widening, tumour epicentre, and cord compression. Medical charts were reviewed for patients' demographics and tumour pathology. Tumours were classified as benign or malignant, and neuroblastomas were further classified as low or intermediate risk versus high risk. RESULTS: Thirty-three (47%) of the patients had neuroblastic tumours. Fourteen (20%) of the patients had sarcomas (mainly Ewing sarcoma). Other less common aetiologies included neurofibromas, germ cell tumours, Langerhans cell histiocytosis and haemangiomas. Neuroblastic tumours were particularly common in the thoraco-lumbar region, and considerably less prevalent in the sacral and cervical regions. Additional features, such as foraminal widening, the number of foramina involved, and cord compression, did not help discriminate between neuroblastic and non-neuroblastic tumours. Most tumours (80%) were malignant. Most benign tumours (>50%) were associated with a genetic predisposition syndrome. CONCLUSION: In evaluating neoplasms that involve the neural foramina in children, neuroblastic tumours are most common. Nevertheless, other aetiologies should be considered, mainly sarcomas. Most lesions in children are malignant. When encountering a benign mass, genetic counselling should be considered.

Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG).

Gorlin syndrome (MIM 109,400), a cancer predisposition syndrome related to a constitutional pathogenic variation (PV) of a gene in the Sonic Hedgehog pathway (PTCH1 or SUFU), is associated with a broad spectrum of benign and malignant tumors. Basal cell carcinomas (BCC), odontogenic keratocysts and medulloblastomas are the main tumor types encountered, but meningiomas, ovarian or cardiac fibromas and sarcomas have also been described. The clinical features and tumor risks are different depending on the causative gene. Due to the rarity of this condition, there is little data on phenotype-genotype correlations. This report summarizes genotype-based recommendations for screening patients with PTCH1 and SUFU-related Gorlin syndrome, discussed during a workshop of the Host Genome Working Group of the European branch of the International Society of Pediatric Oncology (SIOPE HGWG) held in January 2020. In order to allow early detection of BCC, dermatologic examination should start at age 10 in PTCH1, and at age 20 in SUFU PV carriers. Odontogenic keratocyst screening, based on odontologic examination, should begin at age 2 with annual orthopantogram beginning around age 8 for PTCH1 PV carriers only. For medulloblastomas, repeated brain MRI from birth to 5 years should be proposed for SUFU PV carriers only. Brain MRI for meningiomas and pelvic ultrasound for ovarian fibromas should be offered to both PTCH1 and SUFU PV carriers. Follow-up of patients treated with radiotherapy should be prolonged and thorough because of the risk of secondary malignancies. Prospective evaluation of evidence of the effectiveness of these surveillance recommendations is required.