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BACKGROUND: Lymphomas affecting the sublingual glands are extremely rare and very few case reports are currently available. Therefore, the aim of the current study is to describe the clinicopathological features of a series of lymphomas involving the sublingual glands. METHODS: Cases diagnosed in four pathology services were assessed and the formalin-fixed paraffin-embedded tissue blocks were retrieved for diagnosis confirmation. Clinical data were obtained from patients' medical files. RESULTS: We obtained seven cases of lymphomas in the sublingual glands, representing two follicular lymphomas, two diffuse large B cell lymphomas not otherwise specified (DLBCL NOS), two extranodal marginal zone B cell lymphoma of mucosa-associated lymphoid tissue (MALT lymphomas) and one mantle cell lymphoma (MCL). In all cases the tumor cells infiltrated the glandular parenchyma, although in two of them the neoplastic cells were located more superficially and permeated the glandular acini and ducts. Clinically, the tumors presented as asymptomatic nodules and two patients (affected by DLBCL NOS and MCL) died, while the other five patients remained alive at last follow-up. CONCLUSION: Lymphomas affecting the sublingual glands are usually of the mature B cell lineage, often represent low-grade subtypes and may clinically resemble other more common lesions in the floor of the mouth like salivary gland tumors.
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Linfoma de Zona Marginal Tipo Células B , Linfoma Folicular , Linfoma Difuso de Grandes Células B , Linfoma de Célula do Manto , Neoplasias das Glândulas Salivares , Adulto , Humanos , Glândula Sublingual/patologia , Linfoma de Zona Marginal Tipo Células B/patologia , Linfoma Difuso de Grandes Células B/patologia , Neoplasias das Glândulas Salivares/patologiaRESUMO
BACKGROUND: Although uncommon, mature small B-cell lymphomas may arise in the oral/maxillofacial area and oral pathologists must be aware of the key characteristics of these neoplasms to perform an accurate diagnosis. In this manuscript, we attempted to integrate the currently available data on the clinicopathological features of follicular lymphoma (FL), mantle cell lymphoma (MCL), extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT-L), and chronic lymphocytic leukemia/ small lymphocytic lymphoma (CLL/SLL) affecting these anatomical regions. METHODS: An updated descriptive literature review was carried out and a detailed electronic search was done in multiple databases to gather all cases affecting the oral/maxillofacial region and palatine tonsils. RESULTS: We observed that MALT-L was the most frequently reported subtype, followed by FL, MCL, and CLL/SLL. The palate was affected in a high proportion of cases and the most usual clinical presentation was an asymptomatic swelling. MALT-L and CLL/SLL neoplastic cells were strongly associated with small salivary glands. FL showed no gender preference, while MCL and CLL/SLL were more prevalent in males and MALT-L in females. Overall, cases were more common in elderly individuals. Patients' treatment and outcome varied, with MCL being the most aggressive neoplasm with a dismal prognosis in comparison to FL and MALT-L. CONCLUSION: Despite the poor documentation in many of the cases available, especially regarding the microscopic and molecular features of tumors, this review demonstrated that the oral mature small B-cell lymphomas investigated share similar clinical presentation, but carry different prognostic significance, demanding an accurate diagnosis.
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Leucemia Linfocítica Crônica de Células B , Linfoma de Zona Marginal Tipo Células B , Linfoma Folicular , Linfoma de Célula do Manto , Adulto , Idoso , Feminino , Humanos , Leucemia Linfocítica Crônica de Células B/diagnóstico , Linfoma de Zona Marginal Tipo Células B/diagnóstico , Linfoma Folicular/diagnóstico , Linfoma de Célula do Manto/diagnóstico , Masculino , BocaRESUMO
OBJECTIVE: Granular cell tumour (GCT) is a benign neoplasm that originates from Schwann cells. Within the oral cavity, it usually appears as a lingual nodule and especially amongst female adults. Histologically, GCT shows a proliferation of polygonal cells with eosinophilic granular cytoplasm, which can be associated with a pseudoepitheliomatous hyperplasia (PEH). In this study, we analyse the main clinicopathological data of intraoral GCT and we compare our results with previous studies. MATERIAL AND METHODS: We have studied a series of 56 cases of oral GCT in Spain and Brazil, and we have conducted a systematic review in PubMed, Web of Knowledge and Scopus databases, using the keywords: "granular cell tumour" and oral. RESULTS: In our series, GCT appeared as an asymptomatic benign tumour that is more frequent in women and in the tongue. PEH was observed in 32% of the lesions. In the review, we collected 282 cases of oral GCT with a similar clinical profile; seven patients had multiple lesions, and 33% of the cases presented PEH. No cases of malignant oral GCT have been described to date. GCT is an uncommon oral benign neoplasm, mainly unique and asymptomatic, derived from Schwann cells. CONCLUSIONS: Although the etiopathogenesis of this oral tumour is unknown, its characteristics suggest that it could have a reactive nature. Conducting a complete clinicopathological study in all intraoral GCT is fundamental in order to dismiss other entities, including oral carcinoma.
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Tumor de Células Granulares/diagnóstico , Tumor de Células Granulares/patologia , Neoplasias Bucais/diagnóstico , Neoplasias Bucais/patologia , Adulto , Brasil , Feminino , Humanos , Hiperplasia , Masculino , EspanhaRESUMO
OBJECTIVES: To investigate the molecular pathogenesis of implant-associated peripheral giant cell granuloma (IA-PGCG). METHODS: A convenience sample of 15 IA-PGCG cases was selected. Hotspot mutations of KRAS, FGFR1, and TRPV4 genes, previously reported in conventional giant cell lesions of the jaws, were investigated by Sanger sequencing. As these mutations could activate MAPK/ERK pathway, the expression of phospho-ERK1/2 was also evaluated by immunohistochemistry. RESULTS: KRAS mutations were detected in 8/15 (53.4%) samples. Similar to conventional peripheral giant cell granuloma, the KRAS mutations most frequently occurred in codon 146 (p.A146V, n = 3), followed by codon 12 (p.G12A and p.G12D, n = 1 each) and codon 14 (p.V14L, n = 1). Variants of unknown significance (VUS) were also detected in two cases, affecting codons 37 (p.E37K) and 127 (p.T127I). All samples showed wild-type (WT) sequences for FGFR1 and TRPV4 genes. Consistent with MAPK/ERK pathway activation, all mononuclear cells of the lesion showed strong staining for phospho-ERK1/2 protein in the immunohistochemical analysis. CONCLUSIONS: KRAS mutations and activation of the MAPK-ERK signaling pathway occur in IA-PGCG. This is the first study to demonstrate cancer-associated gene mutations in a non-neoplastic reactive condition associated with dental implants.
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Implantes Dentários/efeitos adversos , Granuloma de Células Gigantes/etiologia , Granuloma de Células Gigantes/genética , Proteínas Proto-Oncogênicas p21(ras)/genética , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Quinases de Proteína Quinase Ativadas por Mitógeno/metabolismo , Mutação , Transdução de SinaisRESUMO
BACKGROUND: Lipomas are benign neoplasms derived from adipose tissue that are unfrequently found in the oral cavity. The objective of this study is to identify the main clinicopathological characteristics of this tumour in a case series of oral lipomas (OL) in a population from Spain and Brazil. MATERIAL AND METHODS: A multicentre retrospective observational study was conducted in collaboration with the Oral Pathology Unit of the São Paulo State University (UNESP), São José dos Campos, in Brazil, and the Oral Medicine and Pathology Units of the University of Santiago de Compostela (USC) and the University of the Basque Country (UPV/EHU) in Spain. RESULTS: This multicentre series consists of a total of 97 of OL cases, 31 (32%) of which correspond to Spain, and 66 (68%) to Brazil with an overall prevalence of 0.33%. The average age of the patients is 56.44 years old, with a range of 10-92 (SD = 15.52). Buccal mucosa was the most frequent location (42.3%). Cases from Spain coexisted with other lesions in a significant number of cases, 12.9%, vs Brazil, 1.5% (P = 0.018). According to the progression time, Brazil has an average of 60.35 months (CI: 27.20-93.51), compared to 5.41 months in Spain (CI: 3.17-7.65) (P = 0.022). Average size is 12.55 mm (SD = 11.06), ranging from 2 to 75 mm. A positive correlation is also seen between the increase in the lesion size and a greater progression time (CC = 0.367; P = 0.008). CONCLUSIONS: Correct differential diagnosis of the clinical lesion is key, followed by a good histopathological study, to achieve the final diagnosis.
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Lipoma/epidemiologia , Neoplasias Bucais/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Brasil , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Espanha , Adulto JovemRESUMO
OBJECTIVES: The aim of this study was to identify the possible association between TLR polymorphisms and an increased risk of developing head and neck cancer, including oral (OSCC) and laryngeal squamous cell carcinoma (LSCC), and oral potentially malignant disorders, such as oral lichenoid disease (OLD), including oral lichen planus (OLP) and oral lichenoid lesions (OLL). DESIGN: This case-control study included 40 OSCC, 35 LSCC, 175 OLD (129 OLP and 46 OLL) patients and 89 healthy controls, all of them from the Basque Country, Spain. Genetic polymorphisms in TLR1, TLR2, TLR4, TLR6, TLR9, and TLR10 were genotyped by TaqMan® assays or pyrosequencing. RESULTS: The chi-square analysis showed that the variant A of the SNP TLR2-rs4696480 polymorphism significantly increased the risk of OSCC (p=0.03) and OLL (p=0.02). CONCLUSIONS: The TLR2-rs4696480 polymorphism may be relevant to OSCC and OLL susceptibility in this population encouraging further studies on the TLR2 pathway and its possible association with this group of oral potentially malignant disorders and oral cancer. This may also prove the use of TLR polymorphisms as risk markers for oral and laryngeal cancer.