Abstract
Keratocystic odontogenic tumors (KCOTs) are cystic tumors that arise sporadically or associated with nevoid basal cell carcinoma syndrome (NBCCS). NBCCS is a rare autosomal dominantly inherited disease mainly characterized by multiple basal cell carcinomas, KCOTs of the jaws and a variety of other tumors. PTCH1 mutation can be found both in sporadic or NBCCS associated KCOTs. The aim of the current study was to assess whether a combined clinical and bio-molecular approach could be suitable for the detection of NBCCS among patients with a diagnosis of keratocystic odontogenic tumors (KCOTs). The authors collected keratocystic odontogenic tumors recorded in the database of the Pathology Department of the University of Modena and Reggio Emilia during the period 1991–2011. Through interviews and examinations, family pedigrees were drawn for all patients affected by these odontogenic lesions. We found out that 18 of the 70 patients with KCOTs and/or multiple basal cell carcinomas actually met the clinical criteria for the diagnosis of NBCCS. A wide inter- and intra-familial phenotypic variability was evident in the families. Ameloblastomas (AMLs) were reported in two probands that are also carriers of the PCTH1 germline mutations. Nine germline mutations in the PTCH1 gene, 5 of them novel, were evident in 14 tested probands. The clinical evaluation of the keratocystic odontogenic tumors can be used as screening for the detection of families at risk of NBCCS. Keratocystic odontogenic lesions are uncommon, and their discovery deserves the search for associated cutaneous basal cell carcinomas and other benign and malignant tumors related to NBCCS.
Highlights
The odontogenic keratocyst is a cystic lesion that has a putative growth potential and a propensity for recurrence [1,2]
A combined clinical and molecular screening could be useful for the recognition of nevoid basal cell carcinoma syndrome (NBCCS) in patients that already have an early diagnosis of multiple Keratocystic odontogenic tumors (KCOTs), starting with the evaluation of retrospective pathological records
NBCCS is usually diagnosed through the detection of multiple BCCs at the skin examination; our approach chose to guide the discovery of affected patients starting from another major criteri (KCOTs)
Summary
The odontogenic keratocyst is a cystic lesion that has a putative growth potential and a propensity for recurrence [1,2]. The great majority of keratocysts occur in isolation as single, nonsyndromic cysts, they may present as multiple cysts as a feature of the nevoid basal cell carcinoma syndrome [NBCCS or Gorlin syndrome-GS, OMIM#109400]. NBCCS is a rare autosomal dominantly inherited disorder with variable clinical manifestations, such as basal cell carcinomas of the skin, keratocysts of the jaws, palmar or plantar pits, ectopic calcifications of the falx cerebri [3,4]. Multiple jaw keratocysts are the most consistent and common manifestation of the syndrome, occurring in 65–100% of patients [3]. Keratocysts often represent the first manifestations of NBCCS, frequently preceding syndromic basal cell carcinomas, facilitating early diagnosis [9]
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