Abstract
The primary cilium is a highly conserved cell organelle that is closely connected
to processes involved in cell patterning and replication. Amongst their many functions,
cilia act as “signal towers” through which cell-cell signaling cascades pass. Dysfunction
of cilia or the myriad processes that are connected with cilium function can lead
to disease. Due to the sheer number of cellular processes that at some point involve
the primary cilium, the effects of misregulation are highly heterogeneous between
different cell populations. However, because of the importance of primary cilia in
the development, growth, patterning and orientation of cells and tissues, a common
thread has emerged in which defective cilia can lead to disorganization, which can
contribute to the growth of neoplasms, including cancer and pre-cancerous phenotypes.
Because cilia are so vital for signaling during cell replication and the cell fate
decisions that are important in childhood growth, symptoms often arise early in life.
Here we review recent work connecting misregulation of the primary cilium with tumor
formation in a variety of tissues in the developing body, with a particular focus
on the syndromes in which classic tumor genes are mutated, including von Hippel-Lindau
disease (OMIM 193300), adenomatous polyposis coli (OMIM 175100), tuberous sclerosis
(OMIM 191100) and Birt-Hogg-Dubé syndrome (OMIM 135150). Timely diagnosis of these
syndromes is essential for entry into appropriate screening protocols, which have
been shown to effectively prolong life expectancy in these cohorts of patients.
Keywords
Cilia - von Hippel-Lindau disease - cyst - renal cell carcinoma - medulloblastoma
