Abstract:
Worldwide, oesophageal cancer is the sixth leading cause of deaths related to cancer and
represents a major health concern. Sub-Saharan Africa is one of the regions of the world with the
highest incidence and mortality rates for oesophageal cancer and most of the cases of oesophageal
cancer in this region are oesophageal squamous cell carcinoma (OSCC). The development and
progression of OSCC is characterized by genomic changes which can be utilized as diagnostic or
prognostic markers. These include changes in the expression of various genes involved in signaling
pathways that regulate pathways that regulate processes that are related to the hallmarks of cancer,
changes in the tumor mutational burden, changes in alternate splicing and changes in the expression
of non-coding RNAs such as miRNA. These genomic changes give rise to characteristic profiles of
altered proteins, transcriptomes, spliceosomes and genomes which can be used in clinical applications
to monitor specific disease related parameters. Some of these profiles are characteristic of more
aggressive forms of cancer or are indicative of treatment resistance or tumors that will be difficult
to treat or require more specialized specific treatments. In Sub-Saharan region of Africa there is
a high incidence of viral infections such as HPV and HIV, which are both risk factors for OSCC.
The genomic changes that occur due to these infections can serve as diagnostic markers for OSCC
related to viral infection. Clinically this is an important distinction as it influences treatment as well
as disease progression and treatment monitoring practices. This underlines the importance of the
characterization of the molecular landscape of OSCC in order to provide the best treatment, care,
diagnosis and screening options for the management of OSCC.
