Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case report.

Ezgi Aysu ŞahinEkim Zihni TaşkıranPelin Özlem Şimşek KiperBurça AydınEda Utine

Published in: Journal of medical case reports (2022)

The clinical report emphasizes the importance of clinical awareness and crucial early diagnosis of xeroderma pigmentosum and presents a novel causative homozygous c.2250 + 1G>A splice site mutation. Our case proves that next-generation sequencing is an effective method for the rapid diagnosis and determination of xeroderma pigmentosum genetic etiology.

Keyphrases

radiation therapy
squamous cell carcinoma
locally advanced
copy number
case report
gene expression
mass spectrometry
lymph node metastasis
molecularly imprinted
solid phase extraction
circulating tumor
cell free