Anaplastic thyroid cancer: Pathogenesis, prognostic factors and genetic landscape (Review).

Anaplastic thyroid cancer (ATC) is a rare and aggressive form of thyroid malignancy, presenting significant challenges in diagnosis and treatment. The rarity of this cancer and its aggressive nature make an accurate diagnosis difficult, requiring a multidisciplinary approach and various imaging techniques. Treatment involves a personalized multimodal approach, including surgery, adjuvant therapies and risk stratification. Prognostic factors such as age, tumor characteristics and genetic alterations play a crucial role in determining patient outcomes. Despite advancements, gaps remain in understanding the underlying mechanisms of the disease and establishing standardized treatment guidelines. Further research, collaborative efforts and multicenter studies are necessary to improve diagnostic accuracy, develop targeted therapies and biomarkers, and enhance the long-term management. The present review provides a comprehensive overview of ATC, discussing its clinical manifestations, diagnostic approaches, treatment options, prognostic factors and genetic landscape.

Three Siblings With Woodhouse-Sakati Syndrome: A Case Report of A New Saudi Family.

Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive multi-system genetic disease caused by loss of function mutations in the DCAF17 gene on chromosome 2q31.1. The disease is characterized by gradual neurologic degeneration and polyendocrinopathy, particularly noteworthy for hypogonadism, beginning in early adolescence. Clinical features show wide variability with no clear genotype-phenotype correlation. The pathophysiology of WSS is unclear at present and no specific treatment is available other than hormone replacement which is administered in the course of individualized symptomatic multidisciplinary care. Genetic testing helps in confirming the diagnosis along with genetic counseling of the patient and family members. Here we report multiple cases of WSS in three siblings from a new Saudi Arabia family who were diagnosed with WSS as a consequence of a common founder mutation in the DCAF17 gene with DNA analysis showing a homozygous single nucleotide frameshift deletion (c.436delC) in exon 4 of the gene.