Targeted next-generation sequencing of glandular odontogenic cyst: a preliminary study

被引：6

作者：

de Siqueira, Elisa Carvalho ^{[1
]}

de Sousa, Silvia Ferreira ^{[2
]}

Franca, Josiane Alves ^{[1
]}

Diniz, Marina Goncalves ^{[3
]}

Fontes Pereira, Thais dos Santos ^{[3
]}

Moreira, Rennan Garcias ^{[4
]}

Vargas, Pablo Agustin ^{[5
]}

Gomez, Ricardo Santiago ^{[3
]}

Gomes, Carolina Cavalieri ^{[1
]}

机构：

[1] Univ Fed Minas Gerais, Biol Sci Inst, Dept Pathol, Av Antonio Carlos 6627 Room G3 60, BR-31270901 Belo Horizonte, MG, Brazil

[2] UFS, Biol Sci Inst, Hlth, Dept Dent, Aracaju, Brazil

[3] Univ Fed Minas Gerais, Sch Dent, Dept Oral Surg & Pathol, Belo Horizonte, MG, Brazil

[4] Univ Fed Minas Gerais, Biol Sci Inst, Genom Lab, Belo Horizonte, MG, Brazil

[5] Univ Estadual Campinas, UNICAMP, Dept Oral Diag, Piracicaba Dent Sch, Piracicaba, Brazil

来源：

ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY | 2017年 / 124卷 / 05期

关键词：

DIAGNOSIS;

D O I：

10.1016/j.oooo.2017.07.001

中图分类号：

R78 [口腔科学];

学科分类号：

1003 ;

摘要：

Objective. Glandular odontogenic cyst (GOC) is an uncommon developmental cyst. Its molecular pathogenesis is unclear, and deep sequencing may help identify causative low-frequency variants in tumors. We investigated in GOC mutations in 50 genes commonly altered in human cancers. Study Design. Targeted next-generation sequencing was used to interrogate a panel of approximately 2800 mutations in GOC. Results. Six missense single nucleotide variations (SNVs) were reported. Three SNVs (TP53 rs1042522, KDR rs1870377, and KIT rs3822214) are listed as "common single-nucleotide polymorphisms" at the UCSC Genome Browser. The other SNVs (PIK3CA p.Glu689Lys, PIK3CA p.Ala708Thr, and TP53 p.Leu289Phe) are predicted to have deleterious or damaging effects on proteins, but they showed very low frequency in our samples and could not be further validated by orthogonal methods. Conclusions. No pathogenic SNV was detected in this cohort of GOCs. Further studies with larger gene panels or whole exome sequencing are needed to find the genetic basis of GOC.

引用

页码：490 / 494

页数：5

共 20 条

[1] Glandular odontogenic cyst:: absence of PTCH gene mutation [J].

Barreto, DC ;

De Marco, L ;

Castro, WH ;

Gomez, RS .

JOURNAL OF ORAL PATHOLOGY & MEDICINE, 2001, 30 (02) :125-128

[2] Rare-disease genetics in the era of next-generation sequencing: discovery to translation [J].

Boycott, Kym M. ;

Vanstone, Megan R. ;

Bulman, Dennis E. ;

MacKenzie, Alex E. .

NATURE REVIEWS GENETICS, 2013, 14 (10) :681-691

[3] Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations [J].

Chin, Ephrem L. H. ;

da Silva, Cristina ;

Hegde, Madhuri .

BMC GENETICS, 2013, 14

[4] Interrogation of cancer hotspot mutations in 50 tumour suppressor genes and oncogenes in calcifying cystic odontogenic tumour [J].

de Sousa, Silvia Ferreira ;

Moreira, Rennan Garcia ;

Gomez, Ricardo Santiago ;

Gomes, Carolina Cavalieri .

ORAL ONCOLOGY, 2016, 57 :E1-E3

[5] Glandular Odontogenic Cyst: Analysis of 46 Cases with Special Emphasis on Microscopic Criteria for Diagnosis [J].

Fowler C.B. ;

Brannon R.B. ;

Kessler H.P. ;

Castle J.T. ;

Kahn M.A. .

Head and Neck Pathology, 2011, 5 (4) :364-375

[6] THE GLANDULAR ODONTOGENIC CYST - AN APPARENT ENTITY [J].

GARDNER, DG ;

KESSLER, HP ;

MORENCY, R ;

SCHAFFNER, DL .

JOURNAL OF ORAL PATHOLOGY & MEDICINE, 1988, 17 (08) :359-366

[7] An analysis of oral and maxillofacial pathology found in adults over a 30-year period [J].

Jones, A. V. ;

Franklin, C. D. .

JOURNAL OF ORAL PATHOLOGY & MEDICINE, 2006, 35 (07) :392-401

[8] Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification [J].

Kamps, Rick ;

Brandao, Rita D. ;

van den Bosch, Bianca J. ;

Paulussen, Aimee D. C. ;

Xanthoulea, Sofia ;

Blok, Marinus J. ;

Romano, Andrea .

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2017, 18 (02)

[9] The use of molecular markers as an aid in the diagnosis of glandular odontogenic cyst [J].

Kaplan, I ;

Anavi, Y ;

Manor, R ;

Sulkes, J ;

Calderon, S .

ORAL ONCOLOGY, 2005, 41 (09) :895-902

[10] A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers [J].

Lee, Ryan S. ;

Stewart, Chip ;

Carter, Scott L. ;

Ambrogio, Lauren ;

Cibulskis, Kristian ;

Sougnez, Carrie ;

Lawrence, Michael S. ;

Auclair, Daniel ;

Mora, Jaume ;

Golub, Todd R. ;

Biegel, Jaclyn A. ;

Getz, Gad ;

Roberts, Charles W. M. .

JOURNAL OF CLINICAL INVESTIGATION, 2012, 122 (08) :2983-2988

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