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Research Update 2024

Writer's picture: jaxensjourneyjaxensjourney

Dr. Lu- Cincinnati Children's


We have performed whole genome sequencing of nine pineoblastoma tumors to

identify mutations. Having 9 samples is significantly important due to the rarity of

pineoblastoma. Additionally, our team extracted DNA from the blood samples of

three PB patients and performed whole genome sequencing analysis to identify de

novo mutations in these tumors. We were unable to carry out transcriptomics

profiling of these tumor samples due to low RNA quality. Nonetheless, based on the

whole genome sequencing data, we identified several interesting anomalies in the

samples we tested. Following is a summary of our findings:

1. 12 million variants (mutations + small indels) were identified through alignment of

sequences from WGS experiments of 9 pineoblastoma samples against the

reference genome hg38. 31,162 of the variants were expected to result in

changes in protein sequences or functions.

2. In both the pineoblastoma and blood sample of patient P2, there is a C->T

mutation that led to an A564->V change in the DICER1 protein sequence.

3. In the pineoblastoma sample of patient P5, there is a nonsense mutation at Q301

leading to a truncated DICER1 protein.

4. We also found large sectional losses of chrX and chrY, and a small amplicon on

chr7 (9.5-10.5 Mb) from the DNA copy analysis of patient P8.

Currently, we are conducting cytogenetic analysis to identify genetic mutations and

epigenetic changes that might be responsible for driving the formation of

pineoblastoma tumors. Ultimately, we hope this will lead to identifying the genetic

cause(s) of pineoblastoma. Additionally, we will stratify patients with inconclusive

genetic results from cytogenetic analysis into risk groups based on differing clinical

outcomes.

Furthermore, we have established pineoblastoma (PB) animal models by mutating

Dicer1 and Rb1, recurrent mutations found in patients, and have isolated and

cultured mouse PB tumor cells. We are currently testing various immunotherapy

approaches to target these tumor cells, which may pave the way for future

immunotherapy treatments for pineoblastoma.

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