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Glioblastoma Multiforme in a Patient With Alpha-1-Antitrypsin Deficiency
Curtis Ober1, Rojin Esmail2, Damian Casadesus1
1Internal Medicine, Jackson Memorial Hospital, Miami, USA.
Cureus
|November 29, 2023
Summary
Alpha-1 antitrypsin (A1AT) deficiency is linked to SERPINA1 gene mutations, causing lung and liver disease. This case study explores a glioblastoma diagnosis in an A1AT-deficient patient, highlighting a potential connection.
Area of Science:
- Neuro-oncology
- Genetics
- Hepatology
Background:
- Alpha-1 antitrypsin (A1AT) deficiency, a genetic disorder from SERPINA1 mutations, primarily affects the lungs and liver.
- Elevated SERPINA1 expression correlates with poorer outcomes in high-grade glioblastoma patients.
Keywords:
alpha-1-antitrypsin deficiencycranial neurosurgeryglioblastoma idh-wildtypemetabolic encephalopathytemozolomide
