Publications by authors named "Lucia Menale"
Chronic pancreatitis is often secondary to alcohol abuse, but pancreatitis with no other aetiology is frequently associated with variants in genes encoding proteins related to zymogen granule activation. Our goal was to identify genomic variants in a patient by analyzing an extended panel of genes associated with the intra-pancreatic activation of the trypsin pathway. A 23-year-old woman was addressed at our institution because of chronic pancreatitis of unknown aetiology presenting recurrent episodes since she was the age of four.
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- Sotos syndrome is linked to specific DNA methylation patterns, but distinguishing it from other overgrowth syndromes can be challenging due to variants of unknown significance (VoUS).
- Researchers analyzed DNA methylation in 11 individuals suspected of having Sotos syndrome to assess the pathogenicity of VoUS and found that a specific DNAm signature could confirm or refute diagnoses.
- The study successfully confirmed Sotos syndrome in 8 individuals and excluded it in 3, highlighting the effectiveness of DNA methylation profiling in clarifying diagnostic uncertainties.
Pancreatic cancer-melanoma syndrome (PCMS) is an inherited condition in which mutation carriers have an increased risk of malignant melanoma and/or pancreatic cancer. About 30% of PCMS cases carry mutations in CDKN2A. This gene encodes several protein isoforms, one of which, known as p16, regulates the cell-cycle by interacting with CDK4/CDK6 kinases and with several non-CDK proteins.
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