Multiple adenomatoid odontogenic tumors in a patient with Schimmelpenning syndrome

Martins‐Chaves, Roberta Rayra; Júnior, Aécio Abner Campos Pinto; Gomes, Carolina Cavaliéri; Castro, Wagner Henriques; Gomez, Ricardo Santiago

doi:10.1016/j.oooo.2019.06.006

Cited by 17 publications

(20 citation statements)

References 49 publications

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“…Patients may present with hypoplastic, misshapen or hyperpigmented dentition ( 52 ). Of note, a variety of odontogenic neoplasms, in addition to CGCG, have been reported including adenomatoid odontogenic tumor, ameloblastoma and ameloblastic fibro-odontoma ( 50 - 52 , 79 , 80 ). These rare neoplasms, interestingly, have also been shown to harbor KRAS or BRAF mutations when occurring sporadically and therefore could be expected to occur more frequently in the setting of germline MAPK signaling dysregulation ( 81 , 82 ).…”

Section: Methodsmentioning

confidence: 99%

Giant Cell Lesions of the Jaws Involving RASopathy Syndromes

Luna¹,

Wolsefer²,

Zambrano³

et al. 2022

Acta Stomatol Croat

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Objective Giant cell lesions of the jaws (GCLJ) may rarely occur in the setting of RASopathy syndromes such as Noonan syndrome or neurofibromatosis I. Recently, central giant cell granulomas (CGCG), the most common of the GCLJ, have been recognized as benign neoplasms characterized by Ras/MAPK signaling pathway mutations. This provides a rational basis for understanding GCLJ in RASopathy syndromes as syndromically occurring CGCG. This review aims to summarize the clinicopathologic features of syndromic CGCG and to review the salient clinical and craniofacial features of the syndromes in which they may rarely occur. Material and Methods An electronic search in 3 databases was performed, looking for GCLJ/CGCG in RASopathy syndromes. Results 124 CGCG in 56 patients were identified across 6 RASopathy syndromes. Median age at syndromic CGCG diagnosis is 11 years; 69.6% (39/56) patients developed two or more CGCG; 58.9% (33/56) presented with bilateral posterior mandibular CGCGs, mimicking cherubism. Of 88 CGCG with follow-up, 22.4% (13/58) of excised/resected CGCG recurred while 46.7% (14/30) of monitored CGCG showed continued growth. Conclusion Syndromic CGCG involves multiple RASopathy syndromes and may mimic cherubism or, when solitary, sporadically occurring CGCG. Familiarity with other clinical findings of RASopathy syndromes is critical for appropriate diagnosis and patient management.

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Section: Methodsmentioning

confidence: 99%

Giant Cell Lesions of the Jaws Involving RASopathy Syndromes

Luna¹,

Wolsefer²,

Zambrano³

et al. 2022

Acta Stomatol Croat

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“…Adenomatoid odontogenic tumors most often occur sporadically. However, multiple adenomatoid odontogenic tumors can occur in patients with Schimmelpenning syndrome (OMIM#163200) [ 83 , 84 ]. This syndrome is caused by postzygotic mutations in RAS genes [ 85 ].…”

Section: Mapk/erk Mutations In Odontogenic Tumorsmentioning

confidence: 99%

The Molecular Pathology of Odontogenic Tumors: Expanding the Spectrum of MAPK Pathway Driven Tumors

Guimarães

Coura

Gomez

et al. 2021

Front. Oral. Health

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Odontogenic tumors comprise a heterogeneous group of lesions that arise from the odontogenic apparatus and their remnants. Although the etiopathogenesis of most odontogenic tumors remains unclear, there have been some advances, recently, in the understanding of the genetic basis of specific odontogenic tumors. The mitogen-activated protein kinases/extracellular signal-regulated kinases (MAPK/ERK) pathway is intimately involved in the regulation of important cellular functions, and it is commonly deregulated in several human neoplasms. Molecular analysis performed by different techniques, including direct sequencing, next-generation sequencing, and allele-specific qPCR, have uncovered mutations in genes related to the oncogenic MAPK/ERK signaling pathway in odontogenic tumors. Genetic mutations in this pathway genes have been reported in epithelial and mixed odontogenic tumors, in addition to odontogenic carcinomas and sarcomas. Notably, B-Raf proto-oncogene serine/threonine kinase (BRAF) and KRAS proto-oncogene GTPase (KRAS) pathogenic mutations have been reported in a high proportion of ameloblastomas and adenomatoid odontogenic tumors, respectively. In line with the reports about other neoplasms that harbor a malignant counterpart, the frequency of BRAF p.V600E mutation is higher in ameloblastoma (64% in conventional, 81% in unicystic, and 63% in peripheral) than in ameloblastic carcinoma (35%). The objective of this study was to review MAPK/ERK genetic mutations in benign and malignant odontogenic tumors. Additionally, such genetic alterations were discussed in the context of tumorigenesis, clinical behavior, classification, and future perspectives regarding therapeutic approaches.

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“…Though mostly nonsyndromic, AOTs associated with Schimmelpenning syndrome characteristically are multiple. [ 15 ] Our case reports two foci of nonsyndromic AOTs in the mandible, an intraosseous and a peripheral manifestation without any association to impacted or supernumerary tooth. While radiological and histopathological findings point to two independent lesions, we assume that our PAOT could be an erupted intraosseous cystic variant based on the clinical findings during the surgical procedure.…”

Section: Discussionmentioning

confidence: 99%

Peripheral adenomatoid odontogenic tumor of mandible - A synchronous presentation or a subtype?!

Nithya

Saxena

Kharbanda

2021

Journal of Oral and Maxillofacial Pathology

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Adenomatoid odontogenic tumor (AOT) with its unique and varied presentations histologically and clinically has always been an enigma. AOTs are multifaceted in their appearance with reports pointing out to its occurrence as a synchronous tumor, a purely cystic variant or with multiple foci; however, the three commonly encountered forms are Follicular/Coronal, Extra Follicular/Extra Coronal and Peripheral variants. Here, we present a subtype of the Peripheral AOT (PAOT) seen synchronous with an intraosseous cystic variant of AOT in a 16-year-old female in the anterior mandible. This case is unique in that a PAOT occurring adjacent to a focally aggressive intraosseous cystic AOT (not associated with impacted tooth) could either be synchronous with no connection to the intraosseous component or could actually be an erupted intraosseous cystic variant with peripheral manifestation. Features of cortical expansion, perforation and displacement of teeth without resorption were seen. Histologically, all the classical features of AOT along with abundant eosinophilic amorphous fibrinous deposits, cellular vacuolization, clearing of cells, dystrophic and reactive bone formation and a cystic lining were seen. Thus, this case of PAOT would add to the myriad presentation of AOT making it one of the most often discussed odontogenic tumor.

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Multiple adenomatoid odontogenic tumors in a patient with Schimmelpenning syndrome

Cited by 17 publications

References 49 publications

Giant Cell Lesions of the Jaws Involving RASopathy Syndromes

Giant Cell Lesions of the Jaws Involving RASopathy Syndromes

The Molecular Pathology of Odontogenic Tumors: Expanding the Spectrum of MAPK Pathway Driven Tumors

Peripheral adenomatoid odontogenic tumor of mandible - A synchronous presentation or a subtype?!

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