Cemento-osseous dysplasia is caused by RAS-MAPK activation

Haefliger, Simon; Turek, Daniel; Andrei, Vanghelita; Alborelli, Ilaria; Calgua, Byron; Ameline, Baptiste; Harder, Dorothee; Baumhoer, Daniel

doi:10.1016/j.pathol.2022.10.006

Cited by 5 publications

(3 citation statements)

References 20 publications

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“…SATB2 translocations and SETD2 mutation have been reported in psammomatoid juvenile ossifying fibroma [20,21]. Mutations in ANO5 have been described in gigantiform cementoma [22], and recently, mutations of BRAF, HRAS, KRAS, NRAS, and FGFR3 were described in COD [4].…”

Section: Discussionmentioning

confidence: 99%

“…In the past, COD was considered a non-neoplastic, idiopathic, reactive, or hamartomatous process arising from the apical periodontium due to its close association with the apices of teeth and histologic resemblance to cementum. Recently, pathogenic hotspot mutations were detected in the RAS-MAPK signaling pathway, with mutations of BRAF, HRAS, KRAS, NRAS, and FGFR3 in COD [4].…”

Section: Introductionmentioning

confidence: 99%

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Cemento-Osseous Dysplasia of the Jaw: Demographic and Clinical Analysis of 191 New Cases

Decolibus,

Shahrabi-Farahani,

Brar

et al. 2023

Dentistry Journal

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Cemento-osseous dysplasia (COD) is a form of benign fibro-osseous lesion of the jaw. We sought to evaluate the demographic and clinical presentations of COD by collecting and analyzing the demographic, clinical, radiographic, and pathologic data of COD diagnosed in our institution from 2017 to 2022. Over this six-year period, the records of 191 patients with COD were reviewed. Most patients were African American and female. Eighty-five patients were diagnosed with florid COD (FLCOD), 63 with periapical COD (PCOD), and 43 with focal COD (FCOD). Twenty-eight (14.7%) patients presented symptoms. The most common symptom was pain. All the symptomatic cases of COD that were histopathologically diagnosed were osteomyelitis in the setting of COD. Symptomatic patients were older (mean of 61.3 years) than the asymptomatic patients (mean of 51.2 years). Due to the radiographic appearance of a radiolucency or a mixture of radiolucency and radiopacity, forty-five asymptomatic patients were biopsied. Most of the asymptomatic patients biopsied were patients with FCOD (n = 19, 54.3%), followed by PCOD (n = 16, 25.8%), and FLCOD (n = 10, 15.2%). FLCOD is the most common form of COD to present with symptoms. Due to the significant overlap in clinical and radiographic presentation with other entities, FCOD and PCOD remain a diagnostic challenge to dentists. In conclusion, we analyzed the demographic and clinical features of 191 new cases of COD, which reaffirms that cemento-osseous dysplasia is a condition that primarily affects middle-aged females of African descent and occurs more frequently in the mandible.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Cemento-Osseous Dysplasia of the Jaw: Demographic and Clinical Analysis of 191 New Cases

Decolibus,

Shahrabi-Farahani,

Brar

et al. 2023

Dentistry Journal

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“…ZOD wurden traditionell als nichtneoplastisch angesehen. Unsere Arbeitsgruppe fand aber kürzlich pathogene Hotspotmutationen in Genen des MAP-Kinase-Signalwegs in etwa einem Drittel der untersuchten Läsionen, sodass es sich möglicherweise doch um (selbstlimitierte) Neoplasien handelt [ 13 ]. Die Läsionen sind gutartig und maligne Transformationen kommen nicht vor.…”

Section: Fibroossäre Läsionen Des Kiefersunclassified

Die neue WHO-Klassifikation der Kiefertumoren

Haefliger

Baumhoer

2023

Pathologie

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ZusammenfassungOdontogene Tumoren und Kiefertumoren umfassen ein breites Spektrum an Läsionen, darunter Neoplasien, hamartomatöse Veränderungen und Entwicklungsstörungen. Seit Anfang 2022 ist eine Beta-Version der 5. Auflage der WHO-Klassifikation für Kopf-Hals-Tumoren online verfügbar, die voraussichtlich Mitte 2023 auch als Printversion erscheinen wird. Konzeptionell hat sich im Vergleich zur 4. Auflage nicht viel verändert. Die Reihenfolge der Läsionen ist stringenter nach Dignität geordnet und die gleichen Tumoren werden nicht mehr in verschiedenen Kapiteln lokalisationsabhängig mehrfach beschrieben. Diagnostische Kriterien werden neu in „essential“ und „desirable“ zusammengefasst. Zusätzlich zu den klinischen Aspekten wird nun auch die Bildgebung miteinbezogen und die Klassifikation damit interdisziplinär. Vereinzelt sind auch neue Läsionen erstmals aufgeführt. Dieser Artikel gibt einen Überblick über die Neuerungen der neuen Klassifikation mit einem speziellen Fokus auf die Einteilung der fibroossären Kieferläsionen.

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Whole‐exome sequencing and copy number alterations analysis in a case of expansive florid cemento‐osseous dysplasia

Gomes,

Bastos,

El Mouatani

et al. 2024

Clinical Case Reports

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Key Clinical MessageWhole‐exome sequencing (WES) analysis of an expansive case florid cemento‐osseus dysplasia were reported for the first time. Also, the new potential candidate genes were reported to expand our knowledge about their molecular pathogenesis.AbstractWe report a case of expansive florid cemento‐osseus dysplasia in a 32‐year‐old female patient who presented an expansive tumoral lesion in the anterior mandible. As florid cemento‐osseus dysplasia have only been molecularly investigated using targeted‐sequencing, fragments of the lesion were collected and subjected to molecular investigation using WES to assess somatic mutations as well as copy number alterations. No gains and losses of chromosomal arms or segments longer than 1 Mb were detected. Our findings revealed a pathogenic stopgain variant at the KIF5C gene, a stoploss variant at MAPK10, and missense SNV at COL6A2 at DCDC1, suggesting potential candidate genes associated with florid cemento‐osseus dysplasia.

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Cemento-osseous dysplasia is caused by RAS-MAPK activation

Cited by 5 publications

References 20 publications

Cemento-Osseous Dysplasia of the Jaw: Demographic and Clinical Analysis of 191 New Cases

Cemento-Osseous Dysplasia of the Jaw: Demographic and Clinical Analysis of 191 New Cases

Die neue WHO-Klassifikation der Kiefertumoren

Whole‐exome sequencing and copy number alterations analysis in a case of expansive florid cemento‐osseous dysplasia

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