Fordyce granules and hereditary nonpolyposis colorectal cancer syndrome

Claudio De Felice ^1*, Stefano Parrini ², Giovanna Chitano ³, Mattia Gentile ⁴, Lucia Dipaola ³ and Giuseppe Latini ⁵

¹ Neonatal Intensive Care Unit, Azienda Ospedaliera Universitaria Senese,Policlinico Le Scotte, Siena, Italy
² Department of Odontostomatological Sciences, University of Siena, Siena, Italy
³ Euro Mediterranean Scientific Biomedical Institute (ISBEM), Brindisi, Italy
⁴ Medical Genetic Unit, Hospital Di Venere, Bari, Italy
⁵ Division of Neonatology, Perrino Hospital, Brindisi;, Italy

^* To whom correspondence should be addressed. E-mail: defelice.claudio{at}libero.it.

Accepted 31 March 2005

Abstract

Background: Germline mutations in Mismatch repair (MMR) genes are found in only nearly half of clinically diagnosed families, with hereditary nonpolyposis colorectal cancer syndrome (HNPCC) (or Lynch syndrome). Early identification of gene carriers is essential to reduce cancer incidence and overall mortality.

Aims: Recent evidence indicates an increase in size and number of sebaceous glands following the activation of the Hedgehog pathway, a crucial signaling pathway for animal development that is aberrantly activated in several types of cancer. Here, we sought to assess a possible association between Fordyce granules (FGs) (i.e., ectopic sebaceous glands on the oral mucosa ) and HNPCC.

Methods: A total of 15 members of 5 different, genetically unrelated HNPCC kindreds (MLH1 gene mutation, n=8; undetectable MLH1 protein at immunochemistry n=4; clinical diagnosis, n=3) and 630 genetically unrelated age- and sex-matched healthy controls were examined. Following examination of the oral mucosa surface, the subjects were categorized as either FGs-positive or FGs- negative.

Results: Evidence of FGs was significantly associated with HNPCC (13/15 [86.7%] of the affected patients vs. 6 / 630 [0.95 %] of controls p<0.0001), with a relative risk of 91.0 (95% CI: 40.05-206.76). The observed difference remained significant when carriers of germline mutations in MMR genes were considered (8/15 vs. 6/630, p<0.0001). The most common site for the FGs in HNPCC patients was the lower gingival and vestibular oral mucosa.

Conclusions: Our findings suggest a previously unrecognised activation of the sebaceous glands system occurs in HNPCC. The observation could be of help for the attending physicians in identifying the affected families and/or increase the accuracy of the currently available molecular genetics screenings.

Keywords: colorectal neoplasms, Fordyce granules, hereditary nonpolyposis/diagnosis, physical examination, sebaceous glands

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