Patterns of X chromosome inactivation in sporadic basal cell carcinomas: Evidence for clonality - 09/09/11
Abstract |
Background: Some basal cell carcinomas (BCCs) contain genetic mutations, suggesting that the lesion is composed of a monoclonal population of cells. Clonality, a distinguishing feature of neoplasia, can be inferred by referencing clonal markers such as the pattern of X chromosome inactivation. The X-linked human androgen receptor gene (HUMARA; GenBank) contains a polymorphic DNA marker that reliably illustrates the pattern of X chromosome inactivation in a tissue. Objective: Our purpose was to determine the clonality of sporadic BCCs by examining patterns of X chromosome inactivation. Methods: The patterns of X chromosome inactivation in paired samples of normal skin and sporadic BCCs from 24 women were compared by means of the HUMARA gene assay. Results: All samples from normal skin displayed random X chromosome inactivation, consistent with lyonization. In 15 of 25 tumor samples (60%), nonrandom X chromosome inactivation was detected, consistent with monoclonality. Conclusion: At least some sporadic BCCs are composed of a monoclonal population of cells, strengthening the contention that a collection of mutations confers a growth advantage to this epithelial lesion. (J Am Acad Dermatol 1998;38:49-55.)
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 | From the Dermatology Services, Walter Reed Army Medical Center, Washington, a and Columbia-Presbyterian Medical Center, New York.b |
| Supported by the Department of Clinical Investigation, Walter Reed Army Medical Center, the Walter Reed Army Institute of Research Medical Research Fellowship Program, and by grants from the National Skin Cancer Foundation (1994 Frederick H. Mohs Award to D. S. W.), the Dermatology Foundation (1995 Leon M. Ariyan Research Grant, Ortho Pharmaceutical Corporation to D. S. W), the National Institutes of Health (AG-9927) (to M. P.), and the American Institute for Cancer Research (to M. P.). |
 | The opinions expressed herein reflect the private views of the authors and do not purport to represent the views of the Department of the Army or the Department of Defense. |
| Reprint requests: MAJ Douglas S. Walsh, MC, USA, AFRIMS, APO, AP 96546-5000 USA. |
| ♢ | *Current address: Department of Immunology and Medicine, U.S. Army Medical Component, Armed Forces Research Institute of Medical Sciences (AFRIMS), Bangkok, Thailand (Correspondence: AFRIMS, APO, AP 96546-5000 USA). |
| ♢♢ | **Current address: Department of Dermatology, University of Pennsylvania, Philadelphia, PA 19104. |
| ♦ | 16/1/85757 |
Vol 38 - N° 1
P. 49-55 - janvier 1998 Retour au numéro
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