Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation.
- Federica Guaraldi,
- Giovanni Di Nardo,
- Luigi Tarani,
- Luca Bertelli,
- Francesco Claudio Susca,
- Rosanna Bagnulo,
- Nicoletta Resta
Eur J Med Genet 2017 Apr 18. Epub 2017 Apr 18.
Department of Biomedical Sciences and Human Oncology, Medical Genetics Unit, Aldo Moro University of Bari, Italy.
Juvenile Polyposis (JP) is a rare hereditary condition characterized by diffuse hamartomatous gastrointestinal polyposis, associated with a significantly increased risk of neoplastic transformation. Most of the cases are caused by SMAD and BMPR1A mutations, while 10q23 microdeletions, encompassing both PTEN and BMPR1A oncogenes, are extremely rare, typically associated with more aggressive JP, and extraintestinal features overlapping with PTEN Hamartoma Tumor Syndrome. We present the first case of a young female with multiple autoimmune disorders (i. Read More