Publications by authors named "Ricardo Santiago Gomez"

Objective: To investigate the clinicopathological, immunohistochemical and molecular features of MALT Lymphoma affecting the oral cavity.

Methods: Oral pathology files of a Brazilian institution were searched for cases of oral MALT lymphoma. New H&E-stained slides and immunohistochemistry reactions were evaluated for diagnosis confirmation.

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The KRAS protein is a GTPase that plays a role in the MAPK/ERK signaling pathway and KRAS is one of the most frequently mutated proto-oncogenes in malignant neoplasms, including aggressive tumors such as lung, pancreatic, and colorectal cancer. Mutations in KRAS, previously considered oncogenic drivers and hallmarks of cancer, have been observed at a high frequency in benign sporadic tumors, including those with negligible potential for malignant transformation. In line with that, KRAS mutations have recently been shown to be highly prevalent in adenomatoid odontogenic tumor (AOT).

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Objective: Oral lichen planus (OLP) is a chronic inflammatory disease classified as an oral potentially malignant lesion. The erosive and reticular forms of OLP have the potential for malignant transformation, with no consistent data indicating that one form is more likely to undergo malignant transformation than the other. Tumour mutational burden (TMB) is a parameter that represents the number of somatic mutations in the DNA of neoplastic cells.

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Objective: Oral melanocytic nevi (OMN) are histologically similar to skin nevi; however, they are much rarer and not always related to sun exposure. This study aimed to characterize the histopathological, immunohistochemical, and molecular features of OMN in sun-exposed (vermilion lip) and sun-protected (intraoral) regions.

Method: Cross-sectional study on 14 intraoral and 20 vermilion lip OMN.

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Objectives: To identify whether the classic desmoplastic ameloblastoma (DA) is an independent subtype of ameloblastoma.

Materials And Methods: Eighty-six classic DA and 28 hybrid DA cases were retrieved, and available clinical, radiological, and histopathological data were collected. DNA from microdissected tumor tissues were utilized for BRAF V600E, SMOL412F, and CTNNB1 mutation detection.

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Chikungunya fever is a viral disease transmitted to humans by mosquitoes. Persistent polyarthritis or polyarthralgia morning stiffness and asthenia may last from serveral months to over three years after the disease onset. A 47-year-old non-smoker was referred for evaluation of multiple bilateral interlacing white plaques and papules associated with erosive areas in the buccal mucosa and the tongue's border and ventral surface.

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Objective: To integrate the available data published on odontogenic tumors (OT) in the pediatric population into a comprehensive analysis.

Materials And Methods: A scooping review based on the Preferred Reporting Items for Systematic Reviews and Meta-analyses extension for scoping reviews (PRISMA-ScR) statement was conducted. Four databases were assessed, followed by manual and gray literature searches.

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Purpose: Epithelial-myoepithelial carcinoma (EMC) is a rare malignant neoplasm of the salivary glands. Although most studies have reported the predominant, recurring driver mutation is in HRAS, its molecular pathogenesis is not yet fully understood. The aim of this study is to describe the clinical and histopathological characteristics of a case series of salivary EMC with non-RAS genetic variants.

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Background: Salivary glands are the reservoir for severe acute respiratory syndrome Coronavirus 2 virus (SARS-CoV-2). It is known that SARS-CoV-2 uses angiotensin-converting enzyme 2 (ACE2), transmembrane serine protease 2 (TMPRSS2) and FURIN to infect cells. Salivary glands express these entry factors, and it is unclear if these molecules are expressed in salivary glands from primary Sjögren's disease (pSjD).

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Understanding the early molecular events driving oral carcinogenesis is vital for diagnosing oral squamous cell carcinoma (OSCC) promptly. While metabolic differences between oral leukoplakia (OLK), OSCC, and healthy oral mucosa have been reported, the metabolic changes distinguishing malignant transformed OLKs (MT-OLK) from non-transformed OLKs (NT-OLK) remain unexplored. Here, we examine the metabolomic profiles of 5 cases of MT-OLK and 15 of NT-OLK to identify key predictive molecules using untargeted high-performance liquid chromatography-mass spectrometry.

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Introduction: Segmental Odontomaxillary Dysplasia (SOD) is a non-hereditary, unilateral developmental anomaly recently included in the WHO's classification of head and neck tumors.

Case Presentation: Here, we report the case of an 8-year-old boy presenting with unilateral maxillary enlargement and pain without facial asymmetry. Computed tomography revealed a hypodense area in the maxillary bone with altered bone structure and osseous expansion.

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Article Synopsis
  • The terminology used to describe developmental lesions in the oral cavity can be confusing, particularly in distinguishing between developmental malformations and neoplasia, especially in odontogenic tumors.
  • The report discusses the definitions of malformations and neoplasia, highlighting their significance within the context of odontogenic tumors.
  • Understanding these concepts is crucial for accurately classifying and treating mixed odontogenic lesions.
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Background: Aspergillosis is a fungal disease caused by the inhalation of fungal spores of the genus spp. This fungus mainly affects the lungs but can spread and infect the maxillofacial region through the bloodstream or inoculation of the fungus after extraction or endodontic treatment, especially in the upper posterior teeth. The disease has nonspecific clinical manifestations that hinder its early diagnosis.

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  • The study presents a cohort of 24 patients treated for conventional ameloblastoma, focusing on the outcomes after marginal or segmental resections over 21 years.
  • Most patients were middle-aged females, with the mandible being the most affected site and a predominance of multilocular lesions.
  • The results indicate a low recurrence rate (8.33%) following surgery, with patients monitored for an average of 79.25 months, suggesting that marginal/segmental resection is effective in managing this type of tumor.
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  • A new type of tumor called keratin-positive giant-cell rich tumor has been identified, which is associated with certain genetic fusions and displays unique immunoreactivity to keratin in its cells.
  • Researchers investigated if similar keratin-positive tumors could occur in the jaws by studying 16 cases of giant cell granulomas, but found no evidence of keratin positivity in these cases.
  • Although no keratin-positive giant cell-rich tumors were detected in the jaw samples, the authors suggest that further research is needed, and oral pathologists should remain vigilant for the possible occurrence of this condition.
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Background: Ectomesenchymal chondromyxoid tumor (EMCMT) is a rare neoplasm that mainly affects the tongue and harbors recurrent, although not exclusive, gene fusions. Owing to its rarity, overlapping features with other tumors may lead to challenges in the microscopic diagnosis. We aimed to perform a systematic review focusing on the histomolecular findings of EMCMT of the oral and maxillofacial region and to evaluate the possible association between microscopic features with the genetic background.

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Introduction: Striated duct adenoma (SDA) is a rare benign salivary gland tumor with a recently described genetic signature. Recurrent oncogenic mutations affecting the IDH2 gene differentiate SDA from its primary differential diagnosis of canalicular adenoma. Here, we report a case of SDA affecting the parotid gland with IDH1/2 mutation-specific immunohistochemical positivity.

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Background: Ameloblastoma is a locally destructive benign odontogenic tumor. While the neoplastic cells of conventional ameloblastoma can infiltrate the connective tissue and bone, in unicystic ameloblastoma the epithelium is encapsulated. The mechanisms driving ameloblastoma's bone resorption remains unclear.

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Unlabelled: Whole-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.

Abstract: We 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.

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Objective: To investigate the clinicopathological, immunohistochemical and molecular features of histiocytic sarcomas affecting the oral cavity.

Methods: Pathology files of two institutions were searched for cases of histiocytic sarcoma, and new H&E-stained slides and immunohistochemistry reactions evaluated for diagnosis confirmation. Molecular screening for KRAS and PIK3CA mutations was performed through polymerase chain reaction (PCR) followed by Sanger sequencing.

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Tenosynovial giant cell tumor is a benign neoplasm arising from the synovium of joints, including the temporomandibular joint (TMJ). Despite its benign nature, these tumors may exhibit aggressive behavior. A 57-year-old woman with a swollen, hardened area in the left TMJ was referred to the university´s clinic.

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Article Synopsis
  • This study investigated chronic sclerosing sialadenitis (CSS) to explore its histopathological and immunohistochemical features, with a focus on IgG4-related disease (IgG4-RD).
  • Out of 17 cases examined, the majority showed inflammatory and fibrotic changes, with notable presence of CD3-positive T lymphocytes and stromal fibroblasts, but only three cases met IgG4-RD criteria.
  • The findings suggest that CSS in the submandibular gland is primarily a reactive condition rather than directly related to IgG4-RD, providing valuable insights into its characteristics and immunological profile.
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Targeted therapy has the potential to be used in the neoadjuvant setting for odontogenic tumors, reducing the morbidities associated with major surgery. In this regard, the aim of this study was to summarize the current evidence on the different forms of targeted therapy, effectiveness, and drawbacks of this course of treatment. Four databases were searched electronically without regard to publication date or language.

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  • The study examined the presence of Epstein-Barr virus type 1 (EBV-1) DNA in HIV patients with oral hairy leukoplakia (OHL) before and after various topical treatments.
  • A total of 15 patients received different topical therapies, including podophyllin resin alone or in combination with acyclovir or penciclovir, with samples tested for EBV-1 DNA.
  • Results showed clinical healing in all groups, but 73.3% still had EBV-1 detectable after treatment, and some patients experienced recurrences, highlighting a link between treatment type and virus persistence.
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