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PURPOSE: This study describes a large, well-documented case series of salivary gland polymorphous adenocarcinomas (PAC) from a single Brazilian center. METHODS: Demographic data, clinical presentation, histopathological and immunohistochemical features from 26 cases of PAC were analyzed and discussed in detail. RESULTS: Most patients were females (n = 21), with a ratio of 1:4.2 (male: female) with a mean age of 58.8 years (ranging from 36 to 84 years). The most common clinical presentation was a fibrocollagenous, firm nodular lesion, with a mean size of 2.46 cm (ranging from 0.5 to 3 cm). Most lesions occurred on the palate (n = 16), followed by buccal mucosa (n = 3), upper lip (n = 3), buccal vestibule (n = 2) and alveolar ridge (n = 1). Histologically, various growth patterns were observed, including tubular, solid, cribriform, papillary, and cystic. Additionally, glomeruloid slit-like structures, mucous, and clear cells were noted. Surface papillary epithelial hyperplasia was observed in a few cases. Nine cases exhibited myxoid and collagenous areas, while two cases showed fusiform areas and another case demonstrated squamous differentiation. Clear cell predominance was noted in two cases, and peri- and intraneural invasion was seen in eight cases. Immunohistochemical analysis revealed positivity for S-100, p63 and CK7, and negativity for p40 in all cases. The Ki-67 proliferation index was markedly low in most cases, with a mean of 2.5%. CONCLUSION: We have provided a broad, detailed description of the clinical and microscopic features of PAC in a large, Brazilian cohort. These findings, in a resource-limited area, may be quite useful for establishing a proper diagnosis.
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Adenocarcinoma , Neoplasias de las Glándulas Salivales , Humanos , Masculino , Persona de Mediana Edad , Femenino , Anciano , Adulto , Anciano de 80 o más Años , Adenocarcinoma/patología , Neoplasias de las Glándulas Salivales/patología , Brasil , Biomarcadores de Tumor/análisisRESUMEN
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. BRAFp.V600E mutation was assessed by pyrosequencing. Clinical data regarding sex, age, tumor location, systemic manifestations, clinical presentation, follow-up time, treatment applied and status at last follow-up were collected from patients' pathology and medical files. RESULTS: Three cases were retrieved during the period investigated (2000-2023). Two females and one male were affected, with a wide age range, involving the tongue, palate and gingiva. Histopathologically, the neoplasms presented as highly pleomorphic atypical cells distributed diffusely with infiltration of normal structures. All cases demonstrated histiocytic differentiation expressing CD68 and CD163, and a high Ki67 expression. Genetic mutations were evaluated in two cases. One case harboured BRAF-V600E mutation, but not in KRAS and PIK3CA, while the second case did not show mutation in BRAF-V600E, KRAS and PI3KCA. One patient was lost, and two patients died after eight and four months of follow-up. CONCLUSION: Histiocytic sarcomas involving the oral cavity are extremely rare, and may represent dissemination of a systemic condition. It has an aggressive biological behaviour with a poor overall prognosis.
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Fosfatidilinositol 3-Quinasa Clase I , Sarcoma Histiocítico , Inmunohistoquímica , Neoplasias de la Boca , Mutación , Proteínas Proto-Oncogénicas B-raf , Proteínas Proto-Oncogénicas p21(ras) , Humanos , Masculino , Sarcoma Histiocítico/genética , Sarcoma Histiocítico/patología , Femenino , Persona de Mediana Edad , Fosfatidilinositol 3-Quinasa Clase I/genética , Proteínas Proto-Oncogénicas p21(ras)/genética , Proteínas Proto-Oncogénicas B-raf/genética , Neoplasias de la Boca/genética , Neoplasias de la Boca/patología , Adulto , Biomarcadores de Tumor/genética , Anciano , Reacción en Cadena de la PolimerasaRESUMEN
OBJECTIVE: To evaluate oral lymphomas' clinical manifestations and investigate whether clinical features are associated with lymphoma subtypes. STUDY DESIGN: Oral lymphomas with at least 1 representative clinical image were evaluated. They were classified according to their microscopic grade (high vs low), predominant cell size (small vs medium/large), and cellular lineage (B cell vs T cell). Clinical images were described according to tumor location, number, swelling, ulcer, necrosis, telangiectasia, predominant color, and lobulation. Lymphomas affecting the palate were compared with salivary gland tumors (SGTs) affecting this location. RESULTS: Data from 107 cases were included. High-grade subtypes (80.4%), with medium/large-sized cells (52.3%), and diagnosed as diffuse large B cell lymphomas (29%) predominated. High-grade lymphomas often presented as painful, ulcerative, and osteolytic diseases (P < .05). Tumors predominantly composed of medium/large-sized cells were associated with painful lesions, ulcerated, with necrosis and bone destruction (P < .05). When only palate tumors were considered, multiple and bilateral lesions, the presence of pain, ulceration, and necrosis were significantly more associated with a diagnosis of lymphoma than SGT (P < .001). CONCLUSION: High-grade oral lymphomas are more associated with destructive presentation than low-grade subtypes, and bilateral lesions in the palate are more associated with a lymphoma diagnosis than SGT.
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Linfoma de Células B Grandes Difuso , Neoplasias Palatinas , Humanos , Necrosis , Dolor , Neoplasias Palatinas/diagnósticoRESUMEN
BACKGROUND: This systematic review aimed to investigate the radiological features of lymphomas and leukaemias affecting the jaws. METHODS: A systematic literature review was conducted using the electronic databases of PubMed, Web of Science and Scopus. Articles that contained sufficient radiographic examinations (periapical, panoramic or computed tomography images) for individual cases were included. Additionally, either immunohistochemical or molecular confirmation was required prior to inclusion. Three authors evaluated and described the image quality and radiological features. RESULTS: From an initial 1079 articles screened, 129 cases were included, containing 88 tomographic, 76 panoramic and 26 periapical examinations. The quality of the majority of images was sufficient for evaluation. Diffuse large B-cell lymphoma, Burkitt lymphoma, leukemic infiltration, plasmablastic lymphoma and extranodal Natural killer (NK)/T-cell lymphoma, nasal type were the most common subtypes. Involved teeth presented with mobility in 37.2% of the cases and a provisional diagnosis of inflammatory/infectious dental disease was considered in 49.2% of cases. Computed tomography exams were available for 76% of the cases, with most presented with an osteolytic lesion with ill-defined borders. Periosteal reactions were uncommon. CONCLUSION: Lymphoma/leukaemia infiltrates of the jaw bones are usually of high-grade subtypes and rarely present with periosteal reactions.
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Leucemia , Linfoma de Células B Grandes Difuso , Humanos , Linfoma de Células B Grandes Difuso/patología , Radiografía , Maxilares/diagnóstico por imagen , Maxilares/patologíaRESUMEN
BACKGROUND: Cytopathologic analysis is feasible and provides detailed morphological characterisation of head and neck lesions. AIMS: To integrate the available data published on fine-needle aspiration cytology (FNAC) used for the diagnosis of plasma cell neoplasms (PCN) of the head and neck region. MATERIALS AND METHODS: Searches on PubMed, Web of Science, Embase, and Scopus were performed to compile data from case reports/case series published in English. The Joanna Briggs Institute tool was used for the critical appraisal of studies. RESULTS: A total of 82 studies comprising 102 patients were included in this review. There was a predilection for men (68.6%) (male/female ratio: 2.1:1). Individuals in their 50s (29.4%), 60s (22.5%), and 70s (22.5%) were more often affected. The thyroid gland (26.2%) was the main anatomical location, followed by scalp (15.5%), neck/cervical region (15.5%), jaws (13.6%), and major salivary glands (13.6%). For FNAC analysis, a smear was employed in 41 (40.6%) cases and a cell block was used in four (3.9%). In 56 (55.4%) reports, no cytological methods were available. Morphologically, 34 (56.7%) cases had a diagnosis of PCN with agreement between cytopathology and histopathology. The rate of wrong diagnoses when using cytology was 27.5%. Immunophenotyping was performed in 49 (48%) of the cases. The 69-month disease-free survival rate was 60.2%, while the 27-month overall survival rate was 64.1%. CONCLUSION: This study reinforces that FNAC can be an ancillary tool in the first step towards the diagnosis of PCN of the head and neck region, especially when applying a cell block for cytological analysis.
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Neoplasias de Cabeza y Cuello , Neoplasias de Células Plasmáticas , Neoplasias , Humanos , Masculino , Femenino , Biopsia con Aguja Fina/métodos , Neoplasias/patología , Cuello , Glándula Tiroides/patología , Neoplasias de Células Plasmáticas/patología , Neoplasias de Cabeza y Cuello/diagnóstico , Neoplasias de Cabeza y Cuello/patologíaRESUMEN
OBJECTIVE: To investigate the clinicopathologic features of mantle cell lymphoma (MCL) involving the oral and maxillofacial region. METHODS: The MCL cases were retrieved from the pathosis database of 6 pathology laboratories. Original hematoxylin and eosin slides and immunohistochemical reactions were reviewed for confirmation of the initial diagnosis. Clinical data of the cases were obtained from the patients' pathosis and/or medical charts. RESULTS: Twenty cases were included in the study, showing a male predominance and a mean age of 66 years. The oral cavity (12 cases) and the oropharynx (5 cases) were the most commonly involved subsites. Most cases presented as asymptomatic swellings, with 2 cases showing bilateral involvement of the palate. The classic histologic variant predominated (12/20 cases). All cases expressed CD20 with nuclear cyclin D1 positivity. SOX11 was seen in 9/13 cases, CD5 in 6/16 cases, Bcl2 in 16/19 cases, CD10 in 2/20 cases, and Bcl6 in 4/16 cases. Ki67 showed a mean proliferation index of 40.6%. The Epstein-Barr virus (EBV) was negative in all cases investigated. Follow-up data was available for 7 patients, with 5 currently alive and 2 deceased. CONCLUSION: Mantle cell lymphoma, albeit rare, may manifest in the oral and maxillofacial region. Its histologic heterogeneity demands a high degree of diagnostic skill from pathologists.
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Infecciones por Virus de Epstein-Barr , Linfoma de Células del Manto , Adulto , Humanos , Masculino , Anciano , Femenino , Linfoma de Células del Manto/diagnóstico , Linfoma de Células del Manto/patología , Ciclina D1 , Herpesvirus Humano 4RESUMEN
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 Células B de la Zona Marginal , Linfoma Folicular , Linfoma de Células B Grandes Difuso , Linfoma de Células del Manto , Neoplasias de las Glándulas Salivales , Adulto , Humanos , Glándula Sublingual/patología , Linfoma de Células B de la Zona Marginal/patología , Linfoma de Células B Grandes Difuso/patología , Neoplasias de las Glándulas Salivales/patologíaRESUMEN
BACKGROUND: Mitochondrial fission and fusion processes are known as mitochondrial dynamics and the occurrence of imbalances in the mitochondrial activity is related to the pathogenesis of many human cancers. However, the importance of mitochondrial dynamics in malignant salivary gland tumours remains unknown. Therefore, we aimed to investigate its prognostic significance in adenoid cystic carcinoma. METHODS: Fifty-seven formalin-fixed paraffin-embedded cases were retrieved and disposed in tissue microarray. Histological sections were submitted to immunohistochemical reactions against AMT, DRP1, FIS1, MFN1, MFN2 and OPA1 proteins. Clinical data were retrieved from the patients' medical files, including specific and disease-free survival data. RESULTS: It was observed that 50.9% of the cases were strongly positive for AMT and DRP1, and 49.1%, 21.1%, 22.8% and 24.6% strongly positive for FIS1, MFN1, MFN2 and OPA1, respectively. Reactions were observed in both epithelial and myoepithelial components of the tumour. The higher expression of MFN2 was associated with solid microscopic pattern (p = 0.016). DRP1 overexpression showed a trend towards a shorter overall survival (p = 0.054), while negative/weak OPA1 showed a trend towards a lower disease-free survival (p = 0.051) in the univariate analysis, but no mitochondrial marker represented an independent prognostic determinant under multivariate analysis. CONCLUSION: In conclusion, mitochondrial dynamics markers do not seem to carry a prognostic significance for adenoid cystic carcinoma patients, but these proteins may play an important role in its pathogenesis.
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Carcinoma Adenoide Quístico , Dinámicas Mitocondriales , Carcinoma Adenoide Quístico/metabolismo , Humanos , MitocondriasRESUMEN
Smooth muscle neoplasms represent an important group of lesions which is rare in the oral cavity. Leiomyoma (LM) is benign smooth muscle/pericytic tumor usually presenting as non-aggressive neoplasm, while leiomyosarcoma (LMS) represents its malignant counterpart. The rarity of these lesions, together with its unspecific clinical presentation and a variable histopathological appearance, lead to a broad list of differential diagnoses, hampering their diagnoses. Therefore, in this study we describe the clinical and microscopic features of a series of oral and maxillofacial LMs and LMSs. A retrospective search from 2000 to 2019 was performed and all cases diagnosed as LM and LMS affecting the oral cavity and gnathic bones were retrieved. Clinical and demographic data were obtained from the patients' pathology records, while microscopic features and immunohistochemistry were reviewed and completed when necessary to confirm the diagnoses. Twenty-two LMs and five LMSs were obtained. In the LM group, males predominated, with a mean age of 45.7 years. The upper lip was the most affected site, and 18 cases were classified as angioleiomyomas and four as solid LM. In the LMS group, females predominated, with a mean age of 47.6 years. The mandible was the most affected site. Diffuse proliferation of spindle cells, with necrosis and mitotic figures, were frequent microscopic findings. LMs and LMSs were positive for α-smooth muscle actin, HHF-35 and h-caldesmon. In conclusion, oral LM/LMS are uncommon neoplasms with the latter usually presenting as metastatic disease. H&E evaluation may be very suggestive of oral LMs, but h-caldesmon staining is strongly recommended to confirm LMS diagnosis.
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Leiomioma , Leiomiosarcoma , Tumor de Músculo Liso , Neoplasias Uterinas , Biomarcadores de Tumor , Proteínas de Unión a Calmodulina , Femenino , Humanos , Leiomioma/diagnóstico , Leiomioma/patología , Leiomiosarcoma/diagnóstico , Leiomiosarcoma/patología , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Tumor de Músculo Liso/patología , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/patologíaRESUMEN
OBJECTIVE: In the present study, we aimed to investigate the prognostic value of RUNX1 expression in 76 patients with adenoid cystic carcinoma (ACC). MATERIALS AND METHODS: All cases were arranged in tissue microarray blocks and submitted to immunohistochemistry against RUNX1. These results were statistically correlated with clinicopathologic features, including age, gender, tumour site, tumour size, lymph node status, AJCC clinical stage, distant metastasis, treatment, recurrences, follow-up, histologic pattern, vascular and neural invasion, all of which obtained from patient's medical records. RESULTS: RUNX1 was expressed in the nuclei of tumour cells, with a mean of 18.1% of positivity. Nuclear RUNX1 expression was significantly associated with AJCC clinical stage (p < .0001), solid histologic pattern (p < .0001), vascular invasion (p < .0001) and presence of local recurrence (p < .0001). Using univariate and multivariate analyses, RUNX1 nuclear expression was significantly associated with a lower disease-free survival (p < .0001 and p = .028, respectively) and disease-specific survival (p < .0001 and p = .018, respectively) rates. CONCLUSION: In summary, RUNX1 nuclear expression may represent an indicator of unfavourable outcome for patients affected by head and neck ACC.
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Carcinoma Adenoide Quístico , Neoplasias de Cabeza y Cuello , Neoplasias de las Glándulas Salivales , Subunidad alfa 2 del Factor de Unión al Sitio Principal/genética , Humanos , Recurrencia Local de Neoplasia , PronósticoRESUMEN
OBJECTIVES: The aim of this study was to investigate the prevalence of oral sarcomas from geographic regions of Brazil. MATERIALS AND METHODS: A cross-sectional study was conducted on biopsies obtained from January 2007 to December 2016 at twelve Brazilian oral and maxillofacial pathology centres. Gender, age, evolution time, clinical aspects, tumour location, tumour size at diagnosis, radiographic aspects and histopathological diagnosis were evaluated. Data were analysed using descriptive statistical methods. RESULTS: From 176,537, a total of 200 (0.11%) oral sarcomas were reported, and the most prevalent were osteosarcomas (74 cases; 37%) and Kaposi's sarcomas (52 cases; 26%). Males were more affected than females at a mean age of 32.2 years old (range of 3-87 years). The most common symptoms were swelling¸ localised pain and bleeding at a mean evolution time of 5.14 months (range <1-156 months). The lesions were mostly observed in the mandible (90 cases; 45%), with a mean tumour size of 3.4 cm (range of 0.3-15 cm). Radiographically, the lesions presented a radiolucent aspect showing cortical bone destruction and ill-defined limits. CONCLUSIONS: Oral sarcomas are rare lesions with more than 50 described subtypes. Osteosarcomas and Kaposi's sarcomas were the main sarcomas of the oral cavity in Brazil.