Neuroblastoma with flat genomic profile: a question of representativity?

Abstract

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 >80% tumour 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.

Non-rhabdomyosarcoma soft tissue sarcoma in a neonate, a rare and aggressive disease: case report

“…STS account for 7.4% of all childhood cancers, the incidence being 11 cases/million population. 3 They are essentially divided into Rhabdomyosarcoma (RMS) and Non-Rhabdomyosarcoma Soft Tissue sarcomas (NRSTS). The NRSTS group is less common then RMS group.…”

“…That study noted STS in 8% of all neonatal cancer cases. 3 There is no separate large data for such entity to support or refute any specific abnormality with neonatal STS.…”

“…However, cohort from France noted that surgical excision remains the most important prognostic factor. 3 From fibrosarcoma experience, an attempt to downsize the non-operable tumor should be done. 5,6 Study noted effective cytoreduction with vincristine and actinomycin-D chemotherapy.…”

“…7 Antenatal detection of such malignancy is possible with antenatal ultrasonography. 3 But as neonatal tumors have variable natural history, its impact on pregnancy or treatment decision is not predictable. Histological typing is necessary to predict outcome.…”