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Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome.

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.
PMID
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Authors

Mayor MeshTerms

Mutation

Keywords
Journal Title plos one
Publication Year Start




PMID- 22952776
OWN - NLM
STAT- MEDLINE
DA  - 20120906
DCOM- 20130219
LR  - 20170220
IS  - 1932-6203 (Electronic)
IS  - 1932-6203 (Linking)
VI  - 7
IP  - 8
DP  - 2012
TI  - Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened
      for nevoid basal cell carcinoma (NBCC) syndrome.
PG  - e43827
LID - 10.1371/journal.pone.0043827 [doi]
AB  - 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.
FAU - Pastorino, Lorenza
AU  - Pastorino L
AD  - Department of Internal Medicine and Medical Specialties University of Genoa,
      Genoa, Italy.
FAU - Pollio, Annamaria
AU  - Pollio A
FAU - Pellacani, Giovanni
AU  - Pellacani G
FAU - Guarneri, Carmelo
AU  - Guarneri C
FAU - Ghiorzo, Paola
AU  - Ghiorzo P
FAU - Longo, Caterina
AU  - Longo C
FAU - Bruno, William
AU  - Bruno W
FAU - Giusti, Francesca
AU  - Giusti F
FAU - Bassoli, Sara
AU  - Bassoli S
FAU - Bianchi-Scarra, Giovanna
AU  - Bianchi-Scarra G
FAU - Ruini, Cristel
AU  - Ruini C
FAU - Seidenari, Stefania
AU  - Seidenari S
FAU - Tomasi, Aldo
AU  - Tomasi A
FAU - Ponti, Giovanni
AU  - Ponti G
LA  - eng
PT  - Journal Article
DEP - 20120827
PL  - United States
TA  - PLoS One
JT  - PloS one
JID - 101285081
RN  - 0 (PTCH protein, human)
RN  - 0 (Patched Receptors)
RN  - 0 (Patched-1 Receptor)
RN  - 0 (Receptors, Cell Surface)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Basal Cell Nevus Syndrome/*complications/*diagnosis
MH  - Female
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Odontogenic Tumors/*complications/*genetics
MH  - Patched Receptors
MH  - Patched-1 Receptor
MH  - Pedigree
MH  - Receptors, Cell Surface/*genetics
MH  - Young Adult
PMC - PMC3428295
OID - NLM: PMC3428295
EDAT- 2012/09/07 06:00
MHDA- 2013/02/21 06:00
CRDT- 2012/09/07 06:00
PHST- 2012/04/11 [received]
PHST- 2012/07/30 [accepted]
AID - 10.1371/journal.pone.0043827 [doi]
AID - PONE-D-12-11266 [pii]
PST - ppublish
SO  - PLoS One. 2012;7(8):e43827. doi: 10.1371/journal.pone.0043827. Epub 2012 Aug 27.

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