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

Giovanni Ponti, Lorenza Pastorino, Annamaria Pollio, Sabina Nasti, Giovanni Pellacani, Michele D. Mignogna, Aldo Tomasi, Corrado Del Forno, Caterina Longo, Giovanna Bianchi-Scarrà, Guido Ficarra, Stefania Seidenari

Research output: Contribution to journalArticle

16 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)411-418
Number of pages8
JournalFamilial Cancer
Volume11
Issue number3
DOIs
Publication statusPublished - Sep 2012

Fingerprint

Basal Cell Nevus Syndrome
Ameloblastoma
Odontogenic Tumors
Odontogenic Cysts
Christianity
Neoplasms
Germ-Line Mutation
Basal Cell Carcinoma
Pedigree
Epithelium
Databases
Pathology
Bone and Bones
Recurrence
Skin

Keywords

  • Ameloblastoma
  • Gorlin syndrome
  • Keratocystic odontogenic tumors
  • Nevoid basal cell carcinoma syndrome
  • PTCH1

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Oncology
  • Genetics(clinical)

Cite this

Ponti, G., Pastorino, L., Pollio, A., Nasti, S., Pellacani, G., Mignogna, M. D., ... Seidenari, S. (2012). Ameloblastoma: A neglected criterion for nevoid basal cell carcinoma (Gorlin) syndrome. Familial Cancer, 11(3), 411-418. https://doi.org/10.1007/s10689-012-9529-3

Ameloblastoma : A neglected criterion for nevoid basal cell carcinoma (Gorlin) syndrome. / Ponti, Giovanni; Pastorino, Lorenza; Pollio, Annamaria; Nasti, Sabina; Pellacani, Giovanni; Mignogna, Michele D.; Tomasi, Aldo; Del Forno, Corrado; Longo, Caterina; Bianchi-Scarrà, Giovanna; Ficarra, Guido; Seidenari, Stefania.

In: Familial Cancer, Vol. 11, No. 3, 09.2012, p. 411-418.

Research output: Contribution to journalArticle

Ponti, G, Pastorino, L, Pollio, A, Nasti, S, Pellacani, G, Mignogna, MD, Tomasi, A, Del Forno, C, Longo, C, Bianchi-Scarrà, G, Ficarra, G & Seidenari, S 2012, 'Ameloblastoma: A neglected criterion for nevoid basal cell carcinoma (Gorlin) syndrome', Familial Cancer, vol. 11, no. 3, pp. 411-418. https://doi.org/10.1007/s10689-012-9529-3
Ponti G, Pastorino L, Pollio A, Nasti S, Pellacani G, Mignogna MD et al. Ameloblastoma: A neglected criterion for nevoid basal cell carcinoma (Gorlin) syndrome. Familial Cancer. 2012 Sep;11(3):411-418. https://doi.org/10.1007/s10689-012-9529-3
Ponti, Giovanni ; Pastorino, Lorenza ; Pollio, Annamaria ; Nasti, Sabina ; Pellacani, Giovanni ; Mignogna, Michele D. ; Tomasi, Aldo ; Del Forno, Corrado ; Longo, Caterina ; Bianchi-Scarrà, Giovanna ; Ficarra, Guido ; Seidenari, Stefania. / Ameloblastoma : A neglected criterion for nevoid basal cell carcinoma (Gorlin) syndrome. In: Familial Cancer. 2012 ; Vol. 11, No. 3. pp. 411-418.
@article{0ca41d02d3054156a387157f2f9de219,
title = "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.",
keywords = "Ameloblastoma, Gorlin syndrome, Keratocystic odontogenic tumors, Nevoid basal cell carcinoma syndrome, PTCH1",
author = "Giovanni Ponti and Lorenza Pastorino and Annamaria Pollio and Sabina Nasti and Giovanni Pellacani and Mignogna, {Michele D.} and Aldo Tomasi and {Del Forno}, Corrado and Caterina Longo and Giovanna Bianchi-Scarr{\`a} and Guido Ficarra and Stefania Seidenari",
year = "2012",
month = "9",
doi = "10.1007/s10689-012-9529-3",
language = "English",
volume = "11",
pages = "411--418",
journal = "Familial Cancer",
issn = "1389-9600",
publisher = "Springer Netherlands",
number = "3",

}

TY - JOUR

T1 - Ameloblastoma

T2 - A neglected criterion for nevoid basal cell carcinoma (Gorlin) syndrome

AU - Ponti, Giovanni

AU - Pastorino, Lorenza

AU - Pollio, Annamaria

AU - Nasti, Sabina

AU - Pellacani, Giovanni

AU - Mignogna, Michele D.

AU - Tomasi, Aldo

AU - Del Forno, Corrado

AU - Longo, Caterina

AU - Bianchi-Scarrà, Giovanna

AU - Ficarra, Guido

AU - Seidenari, Stefania

PY - 2012/9

Y1 - 2012/9

N2 - 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.

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.

KW - Ameloblastoma

KW - Gorlin syndrome

KW - Keratocystic odontogenic tumors

KW - Nevoid basal cell carcinoma syndrome

KW - PTCH1

UR - http://www.scopus.com/inward/record.url?scp=84870475904&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84870475904&partnerID=8YFLogxK

U2 - 10.1007/s10689-012-9529-3

DO - 10.1007/s10689-012-9529-3

M3 - Article

C2 - 22565648

AN - SCOPUS:84870475904

VL - 11

SP - 411

EP - 418

JO - Familial Cancer

JF - Familial Cancer

SN - 1389-9600

IS - 3

ER -