Giant Cell Lesions of the Jaws Involving RASopathy Syndromes

Autor: Melissa Luna, Nicholas Wolsefer, Carlos-Xavier Zambrano, Ivan James Stojanov
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Acta stomatologica Croatica : International journal of oral sciences and dental medicine
Volume 56
Issue 1
ISSN: 1846-0410
0001-7019
Popis: 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 clinico-pathologic 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 data-bases 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.
Cilj: Gigantocelularne lezije čeljusti (GCLJ) rijetko se mogu pojaviti u sklopu sindroma RAZopatije poput Noonanova sindroma ili neurofibromatoze I. Nedavno su centralni gigantocelularni granulomi (CGCG), najčešći među GCLJ-ovima, prepoznati kao benigne neoplazme koje karakteriziraju mutacije signalnih puteva Ras/MAPK. To daje racionalnu osnovu za razumijevanje GCLJ-a u sindromima RAZopatije kao sindromski nastaloga CGCG-a. Cilj ovoga preglednoga rada jest sažeti kliničko-patološke značajke sindromskoga CGCG-a i dati pregled kliničkih i kraniofacijalnih značajki sindroma u kojima se rijetko mogu pojaviti. Materijal i metode: Obavljena je elektronička pretraga u trima bazama podataka, a tražili su se GCLJ/CGCG-i u sindromima RAZopatije. Rezultati: U sklopu šest sindroma RAZopatije identificirano je 124 CGCG-a kod 56 pacijenata. Medijan dobi u dijagnozama sindromskoga CGCG-a bio je 11 godina, 69,6 % (39/56) pacijenata razvilo je dva ili više CGCG-a, a 58,9 % (33/56) imalo je bilateralne posteriorne mandibularne CGCG-e koji oponašaju kerubizam. Od 88 CGCG-a s praćenjem ponovilo se 22,4 % (13/58) izrezanih/reseciranih CGCG-a, a 46,7 % (14/30) praćenih pokazalo je kontinuirani rast. Zaključak: Sindromski CGCG obuhvaća nekoliko sindroma RAZopatije i može oponašati kerubizam ili se pojavljuje izolirano. Bitno je poznavati i druge kliničke nalaze sindroma RAZopatije jer je to ključno za odgovarajuću dijagnozu i zbrinjavanje pacijenata.
Databáze: OpenAIRE
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