Common Mutations in Angiomyolipoma
Author Information
Author(s): Qin Wei, Bajaj Vineeta, Malinowska Izabela, Lu Xin, MacConaill Laura, Wu Chin-Lee, Kwiatkowski David J.
Primary Institution: Brigham and Women's Hospital
Hypothesis
What are the genetic mutations present in renal angiomyolipoma?
Conclusion
Sporadic renal angiomyolipoma usually have mutations in TSC2, but not TSC1 or RHEB, and have no other common genomic events.
Supporting Evidence
- Seven of eight samples showed mutations in TSC2.
- Six of the seven mutations were deletions.
- No mutations were found in TSC1 or RHEB.
- Loss of heterozygosity in the TSC2 region was commonly seen.
- None of the tumors showed other common cancer mutations.
Takeaway
This study looked at kidney tumors called angiomyolipomas and found that most had a specific mutation in a gene called TSC2.
Methodology
The study analyzed frozen tissue samples from 9 patients with angiomyolipoma for genetic mutations using RT-PCR and sequencing.
Limitations
The study did not assess chromosomal translocations and gene fusion events.
Participant Demographics
The study included 9 patients, with a small female preponderance (6 females and 3 males).
Statistical Information
P-Value
p=0.013
Digital Object Identifier (DOI)
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