Neuroblastoma tumor cells in central nervous system (brain cancer) - closeup view 3d illustration
Credit: Nemes Laszlo/Getty Images

Scientists at the University of Sheffield, in collaboration with the St. Anna Children’s Cancer Research Institute in Vienna, have developed a novel stem cell model that replicates the origins of early neuroblastoma cancer-like cells, providing insight into the genetic pathway of the disease.

Their findings are published in Nature Communications in an article titled, “A human neural crest model reveals the developmental impact of neuroblastoma-associated chromosomal aberrations.”

“Early childhood tumors arise from transformed embryonic cells, which often carry large copy number alterations (CNA),” the researchers wrote. “However, it remains unclear how CNAs contribute to embryonic tumorigenesis due to a lack of suitable models. Here we employ female human embryonic stem cell (hESC) differentiation and single-cell transcriptome and epigenome analysis to assess the effects of chromosome 17q/1q gains, which are prevalent in the embryonal tumor neuroblastoma (NB).”

The international research team found that specific mutations in chromosomes 17 and 1, combined with overactivation of the MYCN gene, play a pivotal role in the development of aggressive neuroblastoma tumors.

The formation of neuroblastoma usually starts in the womb when a group of normal embryonic cells called “trunk neural crest (NC)” become mutated and cancerous.

In an interdisciplinary effort, the researchers devised a way in which to use human stem cells to grow trunk NC cells in a petri dish.

These cells carried genetic changes often seen in aggressive neuroblastoma tumors. Using genomics analysis and advanced imaging techniques, the researchers found that the altered cells started behaving like cancer cells and looked very similar to the neuroblastoma cells found in sick children.

The findings offer new hope for the creation of tailored treatments that specifically target the cancer while minimizing the adverse effects experienced by patients from existing therapies.

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