Desmoid fibromatosis is a clonal process Journal Article

  


Authors: Li, M.; Cordon-Cardo, C.; Gerald, W. L.; Rosai, J.
Article Title: Desmoid fibromatosis is a clonal process
Abstract: Desmoid fibromatosis is a locally aggressive proliferative soft tissue lesion of controversial nature. The authors investigated the clonality of this process by molecular genetic analysis of DNA methylation pattern at a polymorphic site at the human androgen-receptor gone (HUMARA) to examine the inactivation pattern of the X chromosome. Twenty desmoid fibromatoses including primary and recurrent lesions from 11 female patients were studied. Sixteen lesions from eight patients showed nonrandom X inactivation, consistent with a clonal origin and, therefore, a true neoplastic nature. Furthermore, multiple recurrent lesions from two patients exhibited the same inactivation pattern as the corresponding primary lesions, suggesting that they were derived from the same cell clone as the primary lesion. One patient was homozygous at the HUMARA locus, and two patients had the same skewed pattern in their normal and lesional tissues. The authors also found that digestion with HpaII, but not Hhal, failed to generate a nonrandom X inactivation pattern in some of the cases, suggesting that the methylation status at the HpalI sites was altered in some lesions, and that Hhal should be used to verify results and to avoid incorrect conclusions.
Keywords: adolescent; adult; clinical article; human tissue; molecular genetics; genetic analysis; dna methylation; x chromosome inactivation; soft tissue tumor; desmoid tumor; clonality; fibromatosis; human; female; article; desmoid fibromatosis
Journal Title: Human Pathology
Volume: 27
Issue: 9
ISSN: 0046-8177
Publisher: Elsevier Inc.  
Date Published: 1996-09-01
Start Page: 939
End Page: 943
Language: English
DOI: 10.1016/s0046-8177(96)90221-x
PUBMED: 8816889
PROVIDER: scopus
DOI/URL:

https://www.scopus.com/inward/record.uri?eid=2-s2.0-0029788162&doi=10.1016%2fS0046-8177%2896%2990221-X&partnerID=40&md5=fe15c15c9cfb50a88820251d9136163b
Notes: Article -- Export Date: 22 November 2017 -- Source: Scopus
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MSK Authors
  1. Juan Rosai
    181 Rosai
  2. William L Gerald
    375 Gerald
  3. Carlos Cordon-Cardo
    612 Cordon-Cardo
  4. Maomi Li
    11 Li
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