Desmoids in familial adenomatous polyposis are monoclonal proliferations

Middleton, S. B., Frayling, Ian Martin and Phillips, R. K. S. 2000. Desmoids in familial adenomatous polyposis are monoclonal proliferations. British Journal of Cancer 82 (4) , pp. 827-832. 10.1054/bjoc.1999.1007

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Abstract

Desmoids are poorly-understood, locally aggressive, non-metastasizing fibromatoses that occur with disproportionate frequency in patients with familial adenomatous polyposis (FAP). Their nature is controversial with arguments for and against a neoplastic origin. Neoplastic proliferations are by definition monoclonal, whereas reactive processes originate from a polyclonal background. We examined clonality of 25 samples of desmoid tissue from 11 female FAP patients by assessing patterns of X-chromosome inactivation to calculate a clonality ratio. Polymerase chain reaction (PCR) amplification of a polymorphic CAG short tandem repeat (STR) sequence adjacent to a methylation-sensitive restriction enzyme site within the human androgen receptor (HUMARA) gene using fluorescent-labelled primers enabled analysis of PCR products by Applied Biosystems Genescan IITMsoftware. Twenty-one samples from nine patients were informative for the assay. Samples from all informative cases comprised a median of 66% (range 0–75%) clonal cells but from the six patients with a clonality ratio ≤0.5 comprised a median of 71% (65–75%) clonal cells. FAP-associated desmoid tumours are true neoplasms. This may have implications in the development of improved treatment protocols for patients with these aggressive tumours.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine
Subjects:	R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer)
Uncontrolled Keywords:	desmoids; familial adenomatous polyposis; clonality; neoplasm; X-chromosome inactivation; HUMARA
Publisher:	Nature Publishing Group
ISSN:	0007-0920
Last Modified:	04 Jun 2017 07:56
URI:	https://orca.cardiff.ac.uk/id/eprint/70127

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