The Annals of otology, rhinology, and laryngology · 2020
Hypopharyngeal Squamous Cell Carcinoma in Sisters with LMNA Associated Familial Partial Lipodystrophy: A Case Report and Review of the Literature.
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Youssef Stephanie J, Macielak Robert J, Schimmenti Lisa A, Chatzopoulos Kyriakos, Price Daniel L
Аннотация
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.
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.