Clonal cytogenetic evolution in a squamous cell carcinoma of the skin from a xeroderma pigmentosum patient.

[monosomy 21]

Cytogenetic changes in epithelial neoplasms are often complex , making it difficult to determine which are the primary abnormalities and which are secondary . In this report , we describe clonal evolution in a cytogenetically simple , but clinically aggressive squamous cell cancer of the skin from a patient with xeroderma pigmentosum . Chromosome preparations were analyzed from a direct harvest , three independent primary harvests , and passaged cell lines . Three closely related tumor subclones were identified in the primary cultures , and all three proliferated in vitro . Monosomy 4 and a chromosome 9 rearrangement were present in all three subclones and monosomy 21 was present in two subclones . An i (9 p ) and an i (9 q ) were derived from the same chromosome 9 , and there was concurrent loss of the homologous chromosome 9 . In addition , each subclone was characterized by a further specific evolutionary change : t (5 ;7 ) (q 11 .2 ;p 22 ) in subclone 1 , der (11 )t (10 ;11 ) (q 21 ;p 14 ) in subclone 2 , and der (14 )t (13 ;14 ) (q 14 ;q 32 ) in subclone 3 . All three subclones were represented by hypodiploid and hypotetraploid metaphases . Loss of chromosomes from hypotetraploid cells and an 11 q + were the only other changes found in this tumor . The early genetic events in the evolution of this squamous cell cancer , monosomy 4 , i (9 p ), i (9 q ), and monosomy 21 , represent loss of chromosome regions that are commonly lost in other squamous cell carcinomas of the head and neck region . Taken together , these observations indicate that genes on these chromosomal regions are probably important and possibly sufficient for the development of squamous cell carcinoma .

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harlequin ichthyosis

monosomy 21

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