RESUMO
BACKGROUND: Cellular angiofibroma, a rare benign mesenchymal neoplasm, is classified within the 13q/RB1 family of tumors due to morphological, immunohistochemical, and genetic similarities with spindle cell lipoma. Here, genetic data reveal pathogenetic heterogeneity in cellular angiofibroma. METHODS: Three cellular angiofibromas were studied using G-banding/Karyotyping, array comparative genomic hybridization, RNA sequencing, and direct cycling sequencing. RESULTS: The first tumor carried a del(13)(q12) together with heterozygous loss and minimal expression of the RB1 gene. Tumors two and three displayed chromosome 8 abnormalities associated with chimeras of the pleomorphic adenoma gene 1 (PLAG1). In tumor 2, the cathepsin B (CTSB) fused to PLAG1 (CTSB::PLAG1) while in tumor 3, the mir-99a-let-7c cluster host gene (MIR99AHG) fused to PLAG1 (MIR99AHG::PLAG1), both leading to elevated expression of PLAG1 and insulin growth factor 2. CONCLUSION: This study uncovers two genetic pathways contributing to the pathogenetic heterogeneity within cellular angiofibromas. The first aligns with the 13q/RB1 family of tumors and the second involves PLAG1-chimeras. These findings highlight the diverse genetic landscape of cellular angiofibromas, providing insights into potential diagnostic strategies.
Assuntos
Angiofibroma , Cromossomos Humanos Par 13 , Heterogeneidade Genética , Humanos , Angiofibroma/genética , Angiofibroma/patologia , Masculino , Cromossomos Humanos Par 13/genética , Proteínas de Ligação a DNA/genética , Adulto , Feminino , Proteínas de Ligação a Retinoblastoma/genética , MicroRNAs/genética , Ubiquitina-Proteína Ligases/genética , Pessoa de Meia-Idade , Hibridização Genômica Comparativa , Cromossomos Humanos Par 8/genética , Catepsina BRESUMO
Juvenile angiofibroma (JA) is a rare, sex-specific, and highly vascularized nasal tumor that almost exclusively affects male adolescents, but its etiology has been controversial. The G protein-coupled hormone receptor LHCGR [luteinizing hormone (LH)/choriogonadotropin (hCG) receptor] represents a promising new candidate for elucidating the underlying mechanisms of sex specificity, pubertal manifestation, and JA progression. We used highly sensitive RNAscope technology, together with immunohistochemistry, to investigate the cellular expression, localization, and distribution of LHCGR in tissue samples from JA patients. Our results provide evidence for LHCGR expression in subsets of cells throughout JA tissue sections, with the majority of LHCGR+ cells located in close vicinity to blood vessels, rendering them susceptible to endocrine LH/hCG signaling, but LHCGR+ cells were also detected in fibrocollagenous stroma. A majority of LHCGR+ cells located near the vascular lumen co-expressed the neural crest stem cell marker CD271. These results are intriguing as both LH and hCG are produced in a time- and sex-dependent manner, and are known to be capable of inducing cell proliferation and angiogenesis. Our results give rise to a new model that suggests endocrine mechanisms involving LHCGR and its ligands, together with autocrine and paracrine signaling, in JA vascularization and cell proliferation.
Assuntos
Angiofibroma , Receptores do LH , Humanos , Receptores do LH/metabolismo , Masculino , Angiofibroma/metabolismo , Angiofibroma/patologia , Feminino , Adolescente , Neoplasias Nasais/metabolismo , Neoplasias Nasais/patologia , Criança , Caracteres Sexuais , Proteínas do Tecido Nervoso , Receptores de Fator de Crescimento NeuralRESUMO
The BiZact device, a bipolar electrosurgical scissor designed for tonsillectomy, minimizes thermal tissue damage and seals blood vessels <3 mm in diameter while dividing the soft tissue. This study describes the authors' experience with sinonasal tumor surgery using a BiZact and discusses its clinical utility and advantages. The authors analyzed BiZact-assisted endoscopic sinonasal tumor surgery cases between January 2021 and May 2023. Data were collected on patients' demographics, histopathology, extent of tumor involvement, surgical records, and postoperative medical records. Clinical utility was assessed using the success rate of complete tumor excision, estimated blood loss during surgery, device-related complications, and operation time. A survey of the surgeons' BiZact experience was also conducted. The diagnoses of the 20 patients in this study included squamous cell carcinoma (n = 2), malignant melanoma (n = 1), sarcoma (n = 1), natural killer cell lymphoma (n = 1), inverted papilloma (n = 12), angiofibroma (n = 2), and schwannoma (n = 1). This pilot study demonstrated a shortened operative time, with a median of 0.8 hours and <100 mL of intraoperative blood loss. In addition, no BiZact-related complications were observed. The BiZact device allows efficient sinonasal surgery because it has the unique advantage of one-step sealing and cutting. BiZact-assisted endoscopic sinonasal tumor surgery is a beneficial and safe procedure that reduces blood loss during surgery, shortens the operative time, and minimizes postoperative complications.
Assuntos
Endoscopia , Duração da Cirurgia , Neoplasias dos Seios Paranasais , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Adulto , Idoso , Neoplasias dos Seios Paranasais/cirurgia , Neoplasias dos Seios Paranasais/patologia , Endoscopia/métodos , Projetos Piloto , Eletrocirurgia/instrumentação , Eletrocirurgia/métodos , Perda Sanguínea Cirúrgica , Carcinoma de Células Escamosas/cirurgia , Carcinoma de Células Escamosas/patologia , Melanoma/cirurgia , Melanoma/patologia , Angiofibroma/cirurgia , Angiofibroma/patologia , Sarcoma/cirurgia , Sarcoma/patologia , Resultado do Tratamento , Papiloma Invertido/cirurgia , Papiloma Invertido/patologia , Idoso de 80 Anos ou maisRESUMO
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare, complex genetic disorder characterized by hamartomas and neoplastic lesions in various organ systems. With the development of radiology and gene testing, the diagnostic criteria for TSC were updated in 2012 at the International Consensus Conference. Intraoral fibromas have long been associated with TSC. However, the incidence of giant cell angiofibroma (GCA) in TSC patients is extremely rare. Here, we report the first case of GCA in the gingival tissue of a patient with TSC. CASE PRESENTATION: A 41-year-old woman first visited the Department of Oral and Maxillofacial Surgery, Chonnam National University Dental Hospital, complaining of gingival enlargement. Clinical examination revealed several manifestations associated with TSC, including intraoral fibromas, facial angiofibromas, dental enamel pits, ungual fibromas, "confetti" skin lesions, hypomelanotic macules, and a shagreen patch. Intraoral examination revealed a 6.0 × 5.0 cm gingival overgrowth on the left mandible. Surgical excision was performed, and subsequent histopathological examination confirmed the diagnosis of GCA. There was no evidence of recurrence within the 24- months of surgery. CONCLUSIONS: We report the first case of GCA in the gingival tissue of a patient with TSC. This report would contribute to an improved understanding of this rare disease. However, further case reports are necessary to clarify the relationship between GCA and TSC.
Assuntos
Angiofibroma , Fibroma , Esclerose Tuberosa , Feminino , Humanos , Adulto , Esclerose Tuberosa/complicações , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/genética , Angiofibroma/diagnóstico , Angiofibroma/patologia , Angiofibroma/cirurgia , Gengiva/patologia , Células Gigantes/patologiaRESUMO
RATIONALE: Tuberous sclerosis complex (TSC) is a rare autosomal dominant inherited disorder characterized by the development of nonmalignant tissue growths (hamartomas) in various organ systems, often located in the brain, skin, heart, lung and kidneys. The delayed diagnosis could be attributed to low expectation or exposure of physicians to this rare disease. High index of clinical suspicion is required for early diagnosis of rare diseases to prevent adverse outcomes. PATIENT CONCERNS: The first patient, a 27-year-old man, presented with intermittent left flank pain and hematuria of 5 months duration. On examination of the skin and oral cavity, he had fibrous cephalic plaque, facial angiofibromas, ungual fibromas, confetti skin lesions, and intraoral fibromas. A CT scan of the chest, abdomen, and brain displayed cystic lung parenchymal changes and multifocal micronodular pneumocyte hyperplasia, angiomyolipomas in both kidneys, and multiple calcified subependymal nodules (SEN), respectively. The second patient, a 28-year-old woman, presented with a seizure disorder in the last 1 year, and papular and nodular lesions over her face since childhood. On examination of the skin and oral cavity, she had hypomelanotic macules, facial angiofibromas, shagreen patches, ungual fibromas, intraoral fibromas, and dental enamel pits. DIAGNOSES: Definitive diagnosis of TSC was made in both patients using the "2012 tuberous sclerosis complex diagnostic criteria consensus statement." INTERVENTIONS: The first patient was seen by various medical discipline teams, and suggested close follow-up in the "chronic illness clinic" of the hospital. The second patient was scheduled in dermatology clinic for electrocautery for disfiguring facial nodules. OUTCOME: Both patients were scheduled for close follow-up in the hospital. LESSONS: The patients described had TSC using "clinical diagnostic criteria." Under the clinical diagnostic criteria of TSC, 4 of 11 major criteria and 3 of 7 minor criteria are skin features. Hence, awareness on skin features as clinical markers to suspect TSC should be emphasized in resource-limited countries.
Assuntos
Angiofibroma , Fibroma , Hamartoma , Dermatopatias , Esclerose Tuberosa , Adulto , Feminino , Humanos , Masculino , Angiofibroma/patologia , Fibroma/patologia , Hamartoma/patologia , Hiperplasia/patologia , Pele/patologia , Dermatopatias/diagnóstico , Esclerose Tuberosa/complicações , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/patologiaRESUMO
Cellular angiofibroma (AF)/Angiomyofibroblastoma (AMF)-like tumor is a rare benign mesenchymal neoplasm. It is very challenging to distinguish benign versus malignant mass radiologically. It is of paramount importance to distinguish Cellular Angiofibroma (CAF) microscopically from its differential diagnoses. A 64-year-old man presented with scrotal swelling. Pathological examination showed features of cellular AF/AMF- like tumor, which shows positivity for CD34, with negativity for S-100 Protein, smooth muscle actin and desmin.
Assuntos
Angiofibroma , Neoplasias de Tecidos Moles , Neoplasias Vulvares , Humanos , Masculino , Idoso , Pessoa de Meia-Idade , Feminino , Angiofibroma/diagnóstico , Angiofibroma/metabolismo , Angiofibroma/patologia , Testículo/patologia , Diagnóstico Diferencial , Proteínas S100 , Neoplasias Vulvares/diagnóstico , Neoplasias Vulvares/patologiaRESUMO
Background: Juvenile nasoangiofibroma (JNA) is a rare, highly vascular, locally aggressive benign tumor which affects male adolescents. It accounts for 0.05-0.5% of head and neck tumors with recurrence rates of 6-50%. The internal maxillary artery is the main source of JNA. Objective: To evaluate the relationship between vascular supply as a factor associated with JNA recurrence. Material and methods: An cohort study was performed in patients diagnosed with NAJ. We collected demographic data, vascular contribution by angiography and tomography results to classify them according to their stage (Radkowski classification), and if they received adjuvant radiotherapy. Post-surgical CT scans were requested to evaluate recurrence and if any of the variables were related to this. Results: A sample of 14 male patients who met the inclusion criteria was collected. The mean age was 14.71 ± 4.08 years. According to Radkowski classification, stage IA, IIA and IIC were reported in 14.3%, IIB and IIB in 7.1% and IIIA in 42.9%. 42.9% had recurrence and out of these, 66.7% had irrigation of the right carotid system and the same percentage of patients received radiotherapy as adjuvant treatment. Conclusions: There is a tendency in tumor recurrence associated with vascular contribution from the right carotid system, as well as with patients who received radiotherapy.
Introducción: el nasoangiofibroma juvenil (NAJ) es un tumor benigno, raro, altamente vascular y localmente agresivo que afecta a adolescentes del sexo masculino. Representa de 0.05 a 0.5% de los tumores de cabeza y cuello con tasas de recurencia del 6-50%. La arteria maxilar interna se considera el principal aporte de los NAJ. Objetivo: evaluar la relación entre el aporte vascular como factor asociado con la recurrencia de NAJ. Material y métodos: se realizó un estudio de cohorte en pacientes con diagnóstico de NAJ. Se recabaron datos demográficos, el aporte vascular por resultados de angiografía y de tomografía para clasificarlos según su estadio (clasificación de Radkowski), y si recibieron radioterapia adyuvante. Se solicitaron tomografías postquirúrgicas para evaluar la recurrencia y si alguna de las variables tiene relación con esta. Resultados: se recolectó una muestra de 14 pacientes del sexo masculino que cumplieron con los criterios de inclusión. La edad promedio fue de 14.71 ± 4.08 años. Según la clasificación de Radkowski, se reportó un estadio IA, IIA y IIC en 14.3%, IIB y IIB en un 7.1% y IIIA en 42.9%. El 42.9% tuvo recurrencia y de estos, el 66.7% tenía irrigación del sistema carotídeo derecho y recibieron radioterapia como tratamiento adyuvante el mismo porcentaje de pacientes. Conclusiones: existe una tendencia en la recurrencia del tumor asociada al aporte vascular proveniente del sistema carotídeo derecho y también a los pacientes que recibieron radioterapia.
Assuntos
Angiofibroma , Neoplasias Nasofaríngeas , Adolescente , Humanos , Masculino , Criança , Estudos de Coortes , Neoplasias Nasofaríngeas/diagnóstico , Neoplasias Nasofaríngeas/patologia , Neoplasias Nasofaríngeas/cirurgia , Estadiamento de Neoplasias , Recidiva Local de Neoplasia/diagnóstico , Recidiva Local de Neoplasia/cirurgia , Angiofibroma/diagnóstico , Angiofibroma/patologia , Angiofibroma/cirurgia , Estudos RetrospectivosRESUMO
BACKGROUND: The literature on microvessel density (MVD) signifying neoangiogenesis/tumour-activity in juvenile nasopharyngeal angiofibroma (JNA) is limited. Accordingly, this study evaluates and correlates MVD characteristics with clinical parameters/aggressiveness/recurrence. MATERIAL AND METHODS: Sixty-two paraffin blocks of JNA were studied histopathologically and MVD was assessed following immunohistochemistry using VEGF and CD34 as vascular markers. A clinical correlation of MVD was undertaken in 43 cases. RESULTS: MVD scores of VEGF and CD34 showed strong inter-correlation. The 'age', 'duration of disease' and 'haemoglobin%' were the only clinical parameters that revealed significance with MVD. Significantly higher MVD scores were appreciated in recurrent cases as well as some other clinical differences from upfront cases. CONCLUSION: This is the first study of MVD with CD34 and VEGF simultaneously depicting clinical correlation. The strong correlation, supports a prognostic role of MVD scores in JNA and this can be better established in a larger multicentre study involving comprehensive examination of tumour dimensions.
Assuntos
Angiofibroma , Neoplasias Nasofaríngeas , Humanos , Fator A de Crescimento do Endotélio Vascular/metabolismo , Angiofibroma/patologia , Densidade Microvascular , Fatores de Crescimento do Endotélio Vascular , Neoplasias Nasofaríngeas/patologia , PrognósticoRESUMO
AIMS: Angiofibroma of soft tissue is a benign soft tissue tumour characterised by bland spindle cells and a distinct branching vascular network. The majority of soft tissue angiofibromas harbour AHRR::NCOA2 gene fusions. Here we present three cases of EWSR1::GFI1B-fused soft tissue tumours that are morphologically most reminiscent of soft tissue angiofibroma. METHODS AND RESULTS: All three cases presented in male patients with an age range of 35-78 years (median = 54 years). Two cases presented as subcutaneous nodules on the trunk (posterior neck and chest wall); one was an intramuscular foot mass. The tumours were unencapsulated nodules with infiltrative margins ranging from 2.2 to 3.4 cm in greatest dimension. Histologically, the tumours contained uniformly bland fibroblastic spindle cells with ovoid to fusiform nuclei and delicate cytoplasmic processes embedded in a myxoid to myxocollagenous stroma. All three cases were characterised by a thin-walled, branching vascular network evenly distributed throughout the tumour. Overt cytological atypia or conspicuous mitotic activity was absent. The spindle cells had an essentially null immunophenotype. By targeted RNA sequencing, an in-frame gene fusion between EWSR1 exons 1-7 and GFI1B exons 6-11 or 7-11 was detected in all three cases. The tumours were marginally excised. For all three cases, there were no documented local recurrence or distant metastases during a limited follow-up period of 6-10 months. CONCLUSIONS: We propose that EWSR1::GFI1B may represent a novel fusion variant of soft tissue angiofibroma.
Assuntos
Angiofibroma , Neoplasias de Cabeça e Pescoço , Neoplasias de Tecidos Moles , Humanos , Masculino , Adulto , Pessoa de Meia-Idade , Idoso , Angiofibroma/genética , Angiofibroma/patologia , Fusão Gênica , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/patologia , Neoplasias de Cabeça e Pescoço/genética , Éxons , Proteínas Proto-Oncogênicas/genética , Proteínas Repressoras/genética , Proteína EWS de Ligação a RNA/genéticaRESUMO
Lifestyle factors, including smoking, have been linked to neoplastic diseases, and reports suggest an association between smoking and overexpression of FGFR (fibroblast growth factor receptor) in certain neoplasms. This study aims to assess the expression of FGFR3 and FGFR4 genes in patients with and without a history of smoking.A total of 118 participants were recruited, including 83 Juvenile Nasopharyngeal Angiofibroma (JNA) patients and 35 healthy participants, the JNA patients were further stratified as smokers and nonsmokers. Total RNA was extracted from the blood & saliva sample by using TRIzol reagent, and quantified using a Nanodrop, and then subjected to gene expression analysis of FGFR3/4 using RT-PCR. Immunohistochemistry analysis was employed using fresh biopsies of JNA to validate the findings. All experiments were performed in triplicates and analysed using the Chi-Square test (P < 0.05). Smokers exhibited significantly lower total RNA concentrations across all sample types (P < 0.001). The study revealed significant upregulation of both FGFR3/4 genes in JNA patients (P < 0.05). Moreover, FGFR3 expression was significantly higher among smokers 66% (95% CI: 53-79%) compared to non-smokers 22% (95% CI: 18-26%). Immunohistochemistry analysis demonstrated moderate to strong staining intensity for FGFR3 among smokers. The study highlights the overexpression of FGFR3/4 genes in JNA patients, with a stronger association observed among smokers. Furthermore, medical reports indicated higher rates of recurrence and bleeding intensity among smokers. These findings emphasize the potential role of FGFR3 as a key molecular factor in JNA, particularly in the context of smoking.
Assuntos
Angiofibroma , Neoplasias Nasofaríngeas , Humanos , Angiofibroma/genética , Angiofibroma/metabolismo , Angiofibroma/patologia , Neoplasias Nasofaríngeas/genética , Neoplasias Nasofaríngeas/metabolismo , Neoplasias Nasofaríngeas/patologia , Imuno-Histoquímica , Fumar/genética , RNA , Receptor Tipo 3 de Fator de Crescimento de Fibroblastos/genética , Receptor Tipo 4 de Fator de Crescimento de Fibroblastos/genéticaRESUMO
Objective:To investigate the surgical approach for the resection of juvenile nasopharyngeal angiofibromaï¼JNAï¼ under nasal endoscopy. Methods:The clinical data of 87 patients undergoing endoscopic resection of nasopharyngeal fibroangioma were retrospectively analyzed. We classified JNA according to tumor site, size, invasion scope and anatomic position relationship between tumor and midline of pupil. Three endoscopic surgical approaches were selected according to the classification, and the postoperative symptoms, complications and recurrence were investigated and analyzed. Results:The tumor resection rate of 87 cases by nasal endoscopic surgery was 100%. Thirty-five cases were approached through the middle nasal passageï¼small tumors located in the nasal sinuses and pterygopalatine fossaï¼, forty-five cases were approached through the lateral wall of the nasal cavityï¼tumor invaded the pterygopalatine fossa but did not exceed the midline of the pupilï¼ , and seven cases were approached via the lateral wall of nasal cavity + ipsilateral anterior wall of maxillary sinusï¼tumor invaded the infratemporal fossa beyond the midline of pupil or invaded the cavernous sinus and the middle cranial fossa epiduralï¼, Postoperative patients with nasal congestion, nasal bleeding, headache, dizziness, vision loss and other symptoms showed varying degrees of improvement. No surgical death or intracranial infection occurred. The postoperative follow-up was 6-78 months, and the recurrence rate was 3.44%. Conclusion:Endoscopic resection of nasopharyngeal fibroangioma is the main treatment method for JNA. Selecting suitable endoscopic approach to resect JNA, To maximize the advantage of nasal endoscopic equipment according to the inherent anatomical space of the human nasal cavity, In order to achieve the purpose of JNA resection, reduce intraoperative and postoperative complications, reduce the recurrence rate and improve the prognosis.
Assuntos
Angiofibroma , Neoplasias Nasofaríngeas , Humanos , Angiofibroma/cirurgia , Angiofibroma/diagnóstico , Angiofibroma/patologia , Estudos Retrospectivos , Neoplasias Nasofaríngeas/patologia , Endoscopia/métodos , PrognósticoRESUMO
An angiomyofibroblastoma is a benign tumor that may present itself in the genital tract of a reproductive age woman. Despite it being a benign neoplasia, unable to be invasive, it can reach large sizes, producing discomfort, pain, and anatomical deformation. A late diagnosis may result in increased surgical difficulty for resection. The following is the clinical case of a woman with a vulvo-perineal tumor of 6 years of evolution, with a final diagnosis of angiomyofibroblastoma, in which complete resection of the lesion was achieved with good cosmetic results. The highlight of this tumor is its slow, silent, but progressive growth, leading to diagnoses that are often confused and late, with a consequent delay in treatment. Among the common differential diagnoses are the Bartholin gland cyst and the aggressive angiomyxoma.
El angiomiofibroblastoma es un tumor benigno que puede presentarse en el tracto genital de la mujer en edad reproductiva. A pesar de ser una neoplasia benigna, sin capacidad invasora, puede alcanzar grandes tamaños, produciendo molestia, dolor y alteración importante de la anatomía. Si el diagnóstico es tardío, aumenta la dificultad quirúrgica en su resección. A continuación, se presenta el caso clínico de una mujer con un tumor vulvoperineal de 6 años de evolución, con diagnóstico final de angiomiofibroblastoma, en el que se logró la resección completa de la lesión con un buen resultado estético. La importancia de este tumor está dada por su crecimiento lento, silencioso, pero progresivo, llevando a que su diagnóstico sea en muchas ocasiones confuso y tardío, con el consecuente retraso en el tratamiento. Dentro de los diagnósticos diferenciales comunes se encuentran el quiste de la glándula de Bartholino y el angiomixoma agresivo.
Assuntos
Humanos , Feminino , Adulto , Neoplasias Vulvares/cirurgia , Neoplasias Vulvares/diagnóstico , Angiomioma/cirurgia , Angiomioma/diagnóstico , Angiofibroma/cirurgia , Angiofibroma/diagnóstico , Períneo , Neoplasias Vulvares/patologia , Angiomioma/patologia , Angiofibroma/patologiaRESUMO
BACKGROUND: Juvenile nasopharyngeal angiofibromas (JNAs) are rare, benign, and locally invasive nasopharyngeal tumors. Endoscopic endonasal resection is effective, non-invasive, with low complication rates. Until recently, endoscopic resection was not suitable for intracranially invasive tumors. PURPOSE/METHOD: We describe resection steps of an intracranially extending JNA with a combined endoscopic endonasal and endoscopic-assisted sublabial transmaxillary approaches. Indications, advantages, and approach-specific complications are also discussed. The main surgical steps are shown in an operative video. CONCLUSION: Surgical excision of JNAs by a combined endoscopic endonasal and sublabial transmaxillary approaches represents a safe and effective treatment for selected intracranially invasive JNA.
Assuntos
Angiofibroma , Neoplasias Nasofaríngeas , Humanos , Angiofibroma/diagnóstico por imagem , Angiofibroma/cirurgia , Angiofibroma/patologia , Neoplasias Nasofaríngeas/diagnóstico por imagem , Neoplasias Nasofaríngeas/cirurgia , Neoplasias Nasofaríngeas/patologia , Endoscopia , Resultado do TratamentoRESUMO
BACKGROUND AND PURPOSE: To comprehensively summarize the radiological characteristics of sinonasal tract angiofibroma (STA) (commonly known as juvenile nasopharyngeal angiofibroma). METHODS: Forty-four lesions from 41 cases provided by 33 study articles identified through a systematic review and 13 lesions from 13 cases from our institution associated with patients with STA who underwent MRI were included in the review study, carried out by two board-certified experienced radiologists. RESULTS: The study participants were all male patients with a mean age of 15.6 years at the time of diagnosis. All of them presented with nasal cavity lesions (100%), predominantly in the nasopharynx (98.2%). The sphenopalatine foramen/pterygopalatine fossa was involved in 76.0%, and compressive shift of the posterolateral wall of the maxillary sinus was present in more than half (57.9%). T2-weighted imaging signal intensity was heterogeneous with mixed high and iso intensities as compared to skeletal muscle (100%). T1-weighted imaging showed partial high signal intensity in 61.1% of the cases. Flow void and intense enhancement were present in almost all cases. Cystic/nonenhancement changes on contrast-enhanced MRI were relatively common (40.8%). The mean apparent diffusion coefficient value (2.07 × 10-3 mm2 /second) and some quantitative dynamic contrast-enhanced MRI parameters were high. There was a significant difference in the frequency of residual/recurrent lesions based on the presence of MRI findings of skull base invasion (p = .017) and intracranial extension (p = .003). CONCLUSIONS: We summarized the MRI findings of STA that can facilitate timely diagnosis and appropriate management.
Assuntos
Angiofibroma , Neoplasias Nasofaríngeas , Seios Paranasais , Humanos , Masculino , Adolescente , Angiofibroma/diagnóstico por imagem , Angiofibroma/patologia , Neoplasias Nasofaríngeas/diagnóstico , Nasofaringe/patologia , Seios Paranasais/patologia , Imageamento por Ressonância MagnéticaRESUMO
BACKGROUND: Juvenile nasopharyngeal angiofibromas (JNAs) are characterized by expansive and destructive growth, often invading the midline/paranasal sinuses, pterygopalatine fossa, and infratemporal fossa and can extend into the orbit, cavernous sinus, or intracranially. OBJECTIVE: To evaluete the major benefits of the extended endoscopic endonasal approach (EEA) for JNA resection as compared with more traditional and invasive transpalatal and transfacial approaches. When JNAs extend into lateral anatomic compartments, the optimal operative trajectory often requires additional approach strategies or surgical staging. METHODS: We retrospectively reviewed 8 cases of large JNAs arising in symptomatic adolescent boys (University of Pittsburgh Medical Center Stages II, III, and V) and discuss anatomic and tumor considerations guiding the decision of a pure EEA vs combined EEA and sublabial transmaxillary approach (Caldwell-Luc). RESULTS: A pure extended EEA was used in 6 JNA cases (UPMC Stages II-III); a multiportal EEA + Caldwell-Luc maxillotomy was used in 2 cases. One of the 2 patients (UPMC Stage V) previously treated with multiportal EEA + Caldwell-Luc maxillotomy underwent staged left temporal/transzygomatic craniotomy, obtaining gross total resection. Seven patients ultimately underwent complete removal without recurrence. One patient with a small residual JNA (UPMC II) underwent stereotactic radiosurgery without progression to date. CONCLUSION: JNAs with lateral extension into the infratemporal fossa often benefited from additional lateral exposure using a Caldwell-Luc maxillotomy. Cases with significant skull base and/or dural involvement may undergo staged surgical treatment; temporalis + transzygomatic craniotomy is often useful for second-stage approaches for residual tumor in these lateral infratemporal or intracranial regions. SRS should be considered for residual tumor if additional surgery is not warranted.
Assuntos
Angiofibroma , Neoplasias Nasofaríngeas , Masculino , Adolescente , Humanos , Angiofibroma/diagnóstico por imagem , Angiofibroma/cirurgia , Angiofibroma/patologia , Estudos Retrospectivos , Neoplasia Residual , Endoscopia , Neoplasias Nasofaríngeas/diagnóstico por imagem , Neoplasias Nasofaríngeas/cirurgia , Neoplasias Nasofaríngeas/patologiaRESUMO
Angiofibroma of soft tissue (AFST) is a recently described benign fibroblastic neoplasm composed of uniform bland spindle cell proliferation in fibrous and fibromyxoid stroma with prominent thin-walled small branching vessels. A major recurrent genetic abnormality in AFST is t(5;8)(p15;q13), which results in the rearrangement of AHRR and NCOA2 . Owing to a lack of discriminatory IHC markers and potential overlap with other mesenchymal neoplasms, it may be difficult to confirm the diagnosis of AFST in some cases. Triggered by a recent gene expression profile study of AFST, which showed the significant upregulation of AhR/AHRR/ARNT downstream genes (including CYP1A1 ), we used a mouse monoclonal antibody to explore the diagnostic significance of CYP1A1 expression in histologically confirmed AFST cases along with 224 control cases, consisting of 221 neoplastic mimickers and 3 non-neoplastic lesions. We found moderate to strong cytoplasmic expression of CYP1A1 in 13 of 16 AFST cases (sensitivity, 81.3%). In contrast, the vast majority of other examined histologic mimickers exhibited no expression of CYP1A1 (specificity, 97.3%), except for 3 myxofibrosarcomas (3/31), 2 solitary fibrous tumors (2/22), and 2 neurofibroma (1/27). Our results indicate that CYP1A1 immunohistochemistry may aid in the diagnosis of AFST by distinguishing among various kinds of tumors, particularly those harboring prominent vasculature.
Assuntos
Angiofibroma , Fibrossarcoma , Neoplasias de Cabeça e Pescoço , Neoplasias de Tecido Fibroso , Neoplasias de Tecidos Moles , Animais , Camundongos , Humanos , Adulto , Citocromo P-450 CYP1A1 , Angiofibroma/diagnóstico , Angiofibroma/genética , Angiofibroma/patologia , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/patologia , Fibrossarcoma/genéticaRESUMO
AIMS: Angiofibroma of soft tissue (AFST) is a benign tumour characterised by prominent arborizing blood vessels throughout the lesion. Approximately two-thirds of AFST cases were reported to have AHRR::NCOA2 fusion, and only two cases have been reported to have other gene fusions: GTF2I::NCOA2 or GAB1::ABL1. Although AFST is included in fibroblastic and myofibroblastic tumours in the World Health Organization's 2020 classification, histiocytic markers, especially CD163, have been reported to be positive in almost all examined cases, and it still remains the possibility of a fibrohistiocytic nature of the tumour. Therefore, we aimed to clarify the genetic and pathological spectrum of AFST and identify whether histiocytic marker-positive cells were true neoplastic cells. METHODS AND RESULTS: We evaluated 12 AFST cases, which included 10 cases with AHRR::NCOA2 and two with AHRR::NCOA3 fusions. Pathologically, nuclear palisading, which has not been reported in AFST, was detected in two cases. Furthermore, one tumour resected by additional wide resection revealed severe infiltrative growth. Immunohistochemical analysis indicated varying levels of desmin-positive cells in nine cases, whereas CD163- and CD68-positive cells were diffusely distributed in all 12 cases. We also performed double immunofluorescence staining and immunofluorescence in situ hybridisation in four resected cases with >10% desmin-positive tumour cells. The results suggested that the CD163-positive cells differed from desmin-positive cells with AHRR::NCOA2 fusion in all four cases. CONCLUSION: Our findings suggested that AHRR::NCOA3 could be the second most frequent fusion gene, and histiocytic marker-positive cells are not genuine neoplastic cells in AFST.
Assuntos
Angiofibroma , Neoplasias de Cabeça e Pescoço , Neoplasias de Tecidos Moles , Humanos , Angiofibroma/genética , Angiofibroma/patologia , Desmina , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/patologia , Hibridização In Situ , Fusão Gênica , Coativador 3 de Receptor Nuclear/genética , Proteínas Repressoras/genética , Fatores de Transcrição Hélice-Alça-Hélice BásicosRESUMO
Vascular tumors represent a challenging pathologic subset for surgical treatment as they show a propensity for profuse bleedings. This is especially applicable to the skull base region, where surgical access is difficult due to its complex anatomy. To overcome this problem, the authors introduced the use of a harmonic scalpel in endoscopic skull base surgery for vascular tumors. Here, the authors report the outcomes of endoscopic harmonic scalpel-assisted surgery in 6 juvenile angiofibromas and 2 hemangiomas. All surgeries were performed using Ethicon Endo-Surgery HARMONIC ACE 5 mm Diameter Shears. The median intraoperative blood loss was 400 mL (range: 200-1500 mL). The median length of hospital stay was 7 days (range: 5-10 days). Recurrence was recorded in 1 patient with juvenile angiofibroma, which was successfully resolved with revision surgery. In this institutional experience, ultrasonic technology showed precise cutting with minimal bleeding, resulting in reduced surgical morbidity compared with conventional endoscopic instruments.
Assuntos
Angiofibroma , Neoplasias Vasculares , Humanos , Neoplasias Vasculares/cirurgia , Endoscopia/métodos , Instrumentos Cirúrgicos , Angiofibroma/cirurgia , Angiofibroma/patologia , Procedimentos Neurocirúrgicos , Base do Crânio/patologiaRESUMO
BACKGROUND: Tumors of the oral cavity must be differentiated into benign and malignant. Rare tumors must also be considered throughout the differential diagnosis when dealing with pathologic changes in the oral mucosa. Examples of rare benign tumors within the oral cavity are solitary fibrous tumors (SFTs). In recent years, individual case reports of SFTs in the oral cavity have been published showing a rising incidence of this rare entity. CASE REPORT: The present case report describes the occurrence of a subtype of SFT in the right buccal mucosa, the so-called giant cell angiofibroma (GCA). Histopathologically, GCA are distinguishable from SFT (NOS) by pseudovascular spaces lined by multinucleated giant cells. GCA generally shows a benign tumor behavior. The treatment of choice was surgical excision through an intraoral approach. CONCLUSION: To the best of our knowledge, this is one of a few reports of GCA arising in the buccal mucosa.