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Ameloblastoma: a neglected criterion for nevoid basal cell carcinoma (Gorlin) syndrome.

Abstract Ameloblastomas are considered to be aggressive and locally invasive neoplasms derived from odontogenic epithelium with a tendency for recurrence and bone destruction. Although the relationship between nevoid basal cell carcinoma syndrome (NBCCS) and ameloblastoma is less frequent, it might constitute a peculiar stigmata of this hereditary disorder. The objective of the current study was to evaluate whether a combined clinical and biomolecular approach could be useful for the identification of NBCCS among patients with a diagnosis of ameloblastoma. The authors collected ameloblastoma tumors recorded in the databases of the Pathology Departments of the University of Modena during the period 1991-2011. Family trees were drawn for all 41 patients affected by these specific odontogenic tumors. Two patients with ameloblastoma were also affected by multiple basal cell carcinomas and odontogenic keratocysts tumors (OKCTs) achieving the requested clinical criteria for the diagnosis of NBCCS. The clinical diagnoses were confirmed by the identification of two different novel PTCH1 germline mutations (c.2186A > T [p.K729 M]; c.931insA) in those unrelated patients. Clinical ameloblastoma findings can be used as screening for the identification of families at risk of NBCCS. Ameloblastomas diagnosis warrants the search for associated cutaneous basal cell carcinomas and other benign and malignant tumors related to NBCCS. Thus, we propose the inclusion of ameloblasoma as criterion for the identification of NBCCS.
PMID
Related Publications

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Ameloblastoma associated with the nevoid basal cell carcinoma (Gorlin) syndrome.

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

Authors

Mayor MeshTerms
Keywords
Journal Title familial cancer
Publication Year Start


 


PMID- 22565648
OWN - NLM
STAT- MEDLINE
DA  - 20121115
DCOM- 20130503
LR  - 20161125
IS  - 1573-7292 (Electronic)
IS  - 1389-9600 (Linking)
VI  - 11
IP  - 3
DP  - 2012 Sep
TI  - Ameloblastoma: a neglected criterion for nevoid basal cell carcinoma (Gorlin)
      syndrome.
PG  - 411-8
LID - 10.1007/s10689-012-9529-3 [doi]
AB  - Ameloblastomas are considered to be aggressive and locally invasive neoplasms
      derived from odontogenic epithelium with a tendency for recurrence and bone
      destruction. Although the relationship between nevoid basal cell carcinoma
      syndrome (NBCCS) and ameloblastoma is less frequent, it might constitute a
      peculiar stigmata of this hereditary disorder. The objective of the current study
      was to evaluate whether a combined clinical and biomolecular approach could be
      useful for the identification of NBCCS among patients with a diagnosis of
      ameloblastoma. The authors collected ameloblastoma tumors recorded in the
      databases of the Pathology Departments of the University of Modena during the
      period 1991-2011. Family trees were drawn for all 41 patients affected by these
      specific odontogenic tumors. Two patients with ameloblastoma were also affected
      by multiple basal cell carcinomas and odontogenic keratocysts tumors (OKCTs)
      achieving the requested clinical criteria for the diagnosis of NBCCS. The
      clinical diagnoses were confirmed by the identification of two different novel
      PTCH1 germline mutations (c.2186A > T [p.K729 M]; c.931insA) in those unrelated
      patients. Clinical ameloblastoma findings can be used as screening for the
      identification of families at risk of NBCCS. Ameloblastomas diagnosis warrants
      the search for associated cutaneous basal cell carcinomas and other benign and
      malignant tumors related to NBCCS. Thus, we propose the inclusion of ameloblasoma
      as criterion for the identification of NBCCS.
FAU - Ponti, Giovanni
AU  - Ponti G
AD  - Department of Head and Neck Surgery, University of Modena and Reggio Emilia, via 
      del Pozzo, 71, 41100, Modena, Italy. [email protected]
FAU - Pastorino, Lorenza
AU  - Pastorino L
FAU - Pollio, Annamaria
AU  - Pollio A
FAU - Nasti, Sabina
AU  - Nasti S
FAU - Pellacani, Giovanni
AU  - Pellacani G
FAU - Mignogna, Michele D
AU  - Mignogna MD
FAU - Tomasi, Aldo
AU  - Tomasi A
FAU - Del Forno, Corrado
AU  - Del Forno C
FAU - Longo, Caterina
AU  - Longo C
FAU - Bianchi-Scarra, Giovanna
AU  - Bianchi-Scarra G
FAU - Ficarra, Guido
AU  - Ficarra G
FAU - Seidenari, Stefania
AU  - Seidenari S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Netherlands
TA  - Fam Cancer
JT  - Familial cancer
JID - 100898211
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  - Ameloblastoma/*complications/genetics
MH  - Basal Cell Nevus Syndrome/*diagnosis/genetics
MH  - Family
MH  - Female
MH  - Germ-Line Mutation
MH  - Humans
MH  - Jaw Neoplasms/complications/genetics
MH  - Male
MH  - Middle Aged
MH  - Odontogenic Cysts/genetics
MH  - Odontogenic Tumors/genetics
MH  - Patched Receptors
MH  - Patched-1 Receptor
MH  - Receptors, Cell Surface/*genetics
MH  - Young Adult
EDAT- 2012/05/09 06:00
MHDA- 2013/05/04 06:00
CRDT- 2012/05/09 06:00
AID - 10.1007/s10689-012-9529-3 [doi]
PST - ppublish
SO  - Fam Cancer. 2012 Sep;11(3):411-8. doi: 10.1007/s10689-012-9529-3.

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