Hypopharyngeal Squamous Cell Carcinoma in Sisters with LMNA Associated Familial Partial Lipodystrophy: A Case Report and Review of the Literature

Abstract

Objectives: LMNA-associated familial partial lipodystrophy (FPLD) is a rare autosomal dominant A-type laminopathy characterized by variable loss and redistribution of subcutaneous adipose tissue, dyslipidemia, and insulin resistance. Though A-type lamins play a key role in nuclear membrane structure and regulation of cell proliferation, an association between cancer and LMNA-associated FPLD has not been reported. Methods and Results: This report outlines the case of two biological sisters with LMNA-associated FPLD who developed hypopharyngeal squamous cell carcinoma in the absence of any other risk factors for head and neck cancer. Conclusion: These observations prompt further investigation into the potential role of A-type lamins in the development and progression of head and neck cancers.