RESUMO
Adenoid cystic carcinoma (AdCC) is a salivary gland neoplasm that infrequently appears in the sinonasal region. The aim of this study was to evaluate the outcome and clinicopathological parameters of sinonasal AdCC. A retrospective analysis was conducted on all cases of AdCC affecting the nasal cavity or paranasal sinuses between 2000 and 2018 at the University Hospital Zurich. Tumor material was examined for morphological features and analyzed for molecular alterations. A total of 14 patients were included. Mean age at presentation was 57.7 years. Sequencing revealed MYB::NFIB gene fusion in 11/12 analyzable cases. Poor prognostic factors were solid variant (p < 0.001), histopathological high-grade transformation (p < 0.001), and tumor involvement of the sphenoid sinus (p = 0.02). The median recurrence-free survival (RFS) and OS were 5.2 years and 11.3 years. The RFS rates at 1-, 5-, and 10-year were 100%, 53.8%, and 23.1%. The OS rates at 1-, 5-, and 10- years were 100%, 91.7%, and 62.9%, respectively. In Conclusion, the solid variant (solid portion > 30%), high-grade transformation, and sphenoid sinus involvement are negative prognostic factors for sinonasal AdCC. A high prevalence of MYB::NFIB gene fusion may help to correctly classify diagnostically challenging (e.g. metatypical) cases.
Assuntos
Carcinoma Adenoide Cístico , Neoplasias dos Seios Paranasais , Humanos , Carcinoma Adenoide Cístico/genética , Carcinoma Adenoide Cístico/patologia , Carcinoma Adenoide Cístico/mortalidade , Carcinoma Adenoide Cístico/epidemiologia , Pessoa de Meia-Idade , Masculino , Feminino , Idoso , Estudos Retrospectivos , Adulto , Neoplasias dos Seios Paranasais/patologia , Neoplasias dos Seios Paranasais/genética , Neoplasias dos Seios Paranasais/epidemiologia , Prognóstico , Fatores de Transcrição NFI/genética , Proteínas de Fusão Oncogênica/genética , Proteínas Proto-Oncogênicas c-myb/genética , PrevalênciaRESUMO
INTRODUCTION: Recent evidence supports the efficacy of surgical navigation (SN) in improving outcomes of sinonasal and craniofacial oncologic surgery. This study aims to demonstrate the utility of SN as a tool for integrating surgical, radiologic, and pathologic information. Additionally, a system for recording and mapping biopsy samples has been devised to facilitate sharing of spatial information. MATERIALS AND METHODS: SN was utilized for biopsy mapping in 10 sinonasal/craniofacial oncologic procedures. Twenty-five raters with experience in anterior skull base oncology were interviewed to identify 15 anatomical structures in preoperative imaging, relying on topographical descriptions and surgical video clips. The difference in the localization of anatomical structures by raters was analyzed, using the SN-mapped coordinates as a reference (this difference was defined as spatial error). RESULTS: The analysis revealed an average spatial error of 9.0 mm (95 % confidence interval: 8.3-9.6 mm), with significant differences between surgeons and radiation oncologists (7.9 mm vs 12.5 mm, respectively, p < 0.0001). The proposed model for transferring SN-mapped coordinates can serve as a tool for consultation in multidisciplinary discussions and radiotherapy planning. CONCLUSIONS: The current standard method to evaluate disease extension and margin status is associated with a spatial error approaching 1 cm, which could affect treatment precision and outcomes. The study emphasizes the potential of SN in increasing spatial precision and information sharing. Further research is needed to incorporate this method into a multidisciplinary workflow and measure its impact on outcomes.
Assuntos
Medicina de Precisão , Cirurgia Assistida por Computador , Humanos , Medicina de Precisão/métodos , Cirurgia Assistida por Computador/métodos , Neoplasias dos Seios Paranasais/cirurgia , Neoplasias dos Seios Paranasais/patologia , Feminino , Masculino , Biópsia/métodos , Pessoa de Meia-IdadeRESUMO
High-risk human papillomavirus (hrHPV) is an emerging risk factor for sinonasal squamous cell carcinoma (SNSCC). The goal of this study was to assess the prevalence of hrHPV and subtype distribution in SNSCC and correlation with patient and clinical characteristics. This retrospective cohort study included 43 cases diagnosed with incident primary SNSCC at the University of Cincinnati Medical Center from 2010 to 2015. The prevalence of hrHPV was interrogated using a multi-assay approach that included p16 immunohistochemistry (IHC), RNA in-situ hybridization (ISH), and hrHPV DNA sequencing. The association of hrHPV with 5-year overall survival (OS) and 2-year disease-free survival (DFS) was assessed. Fourteen cases (32.6â¯%) were classified as hrHPV positive, based on the a priori definition of having either a positive RNAScope™ ISH test or hrHPV DNA and p16-positive IHC; 9 cases (20.9â¯%) were positive for all three tests. All cases that arose from an inverted sinonasal papilloma (ex-ISP) were negative for hrHPV. HPV16 was the most common subtype among hrHPV positive cases (58.8â¯%), followed by HPV18 (17.6â¯%). No significant association was observed between hrHPV and OS or DFS after adjusting for potential confounding. hrHPV is prevalent in a sizable fraction of SNSCC. Additional studies are needed to better elucidate the relationship with patient survival outcomes and determine the optimal testing modality for prognostication.
Assuntos
Papillomavirus Humano , Infecções por Papillomavirus , Neoplasias dos Seios Paranasais , Carcinoma de Células Escamosas de Cabeça e Pescoço , Humanos , Papillomavirus Humano/genética , Papillomavirus Humano/isolamento & purificação , Imuno-Histoquímica , Infecções por Papillomavirus/complicações , Infecções por Papillomavirus/mortalidade , Infecções por Papillomavirus/patologia , Infecções por Papillomavirus/virologia , Neoplasias dos Seios Paranasais/mortalidade , Neoplasias dos Seios Paranasais/patologia , Neoplasias dos Seios Paranasais/virologia , Estudos Retrospectivos , Carcinoma de Células Escamosas de Cabeça e Pescoço/virologia , Carcinoma de Células Escamosas de Cabeça e Pescoço/patologia , Carcinoma de Células Escamosas de Cabeça e Pescoço/mortalidadeRESUMO
Sinonasal squamous cell carcinomas (SNSCCs) are uncommon and they are associated with adverse prognosis. HPV-associated SNSCCs and fusion-driven SNSCCs are particularly rare. A case of an HPV-associated SNSCC with a FGFR3::TACC3 fusion is thus presented; a brief review of the pertinent literature is also provided.
Assuntos
Carcinoma de Células Escamosas , Receptor Tipo 3 de Fator de Crescimento de Fibroblastos , Humanos , Receptor Tipo 3 de Fator de Crescimento de Fibroblastos/genética , Carcinoma de Células Escamosas/virologia , Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/patologia , Proteínas Associadas aos Microtúbulos/genética , Masculino , Infecções por Papillomavirus/complicações , Infecções por Papillomavirus/virologia , Neoplasias dos Seios Paranasais/virologia , Neoplasias dos Seios Paranasais/patologia , Neoplasias dos Seios Paranasais/genética , Pessoa de Meia-Idade , FemininoRESUMO
BACKGROUND: High-risk human papillomavirus (HR-HPV) infection has been increasingly recognized as a risk factor for sinonasal tract carcinomas. However the prevalence and prognostic significance of HPV-associated sinonasal carcinomas is not well known due to limited studies and inconsistency in HPV testing modalities in literatures. Morphologically, HPV-associated sinonasal carcinomas encompass a diverse group of tumors. HPV-associated sinonasal adenocarcinoma has not been reported. The purpose of this study was to determine the prevalence, morphologic spectrum and prognostic implication of HPV-associated sinonasal carcinomas. METHODS: This cohort included 153 sinonasal carcinomas. Tissue microarrays were constructed. P16 immunohistochemistry and HR-HPV E6/7 in-situ Hybridization (ISH) were performed. Carcinomas were deemed HPV-associated based on a positive ISH testing. Clinicopathologic data was collected. RESULTS: 28/153 (18%) sinonasal carcinomas were HPV-associated. HPV-associated carcinomas consisted of 26 (93%) squamous cell carcinomas and variants, 1 (3.5%) HPV-related multiphenotypic sinonasal carcinoma and 1 (3.5%) adenocarcinoma. The HPV-associated adenocarcinoma closely resembled HPV-associated endocervical adenocarcinoma morphologically. HPV-associated carcinomas occurred in 8 (29%) women and 20 (71%) men with a median age of 66 years old. HPV-associated carcinomas were predominantly located at nasal cavity. A trend toward improved overall survival and progression free survival in HPV-associated carcinomas patients was observed, yet without statistical significance. CONCLUSION: Our study identifies a novel HPV-associated sinonasal adenocarcinoma subtype, highlights the broad morphologic spectrum of HPV-associated sinonasal carcinomas, and supports routine p16 testing during pathology practice regardless of tumor subtype followed by a confirmatory HR-HPV testing. This practice is critical for studying the clinical behavior of HPV-associated sinonasal carcinomas.
Assuntos
Infecções por Papillomavirus , Neoplasias dos Seios Paranasais , Humanos , Masculino , Feminino , Infecções por Papillomavirus/complicações , Idoso , Pessoa de Meia-Idade , Neoplasias dos Seios Paranasais/virologia , Neoplasias dos Seios Paranasais/patologia , Adulto , Idoso de 80 Anos ou mais , Adenocarcinoma/virologia , Adenocarcinoma/patologiaRESUMO
BACKGROUND: High-grade non-intestinal-type sinonasal adenocarcinoma (non-ITAC) is a rare and aggressive form of adenocarcinoma with poor prognosis. The current standard treatment approach involves surgery combined with radiation therapy. However, there is a need for exploring additional treatment modalities to improve patient outcomes. CASE PRESENTATION: We present a case of a 65-year-old male patient who presented with pain in the right maxillary sinus and was diagnosed with high-grade non-ITAC following surgery. Postoperative pathology revealed tumor invasion into bone tissue and vascular invasion, necessitating further treatment. The patient underwent radiation therapy, followed by immunotherapy with carilizumab combined with chemotherapy. During the maintenance immunotherapy period, tumor progression was observed, and genetic testing identified EGFR and TP53 mutations. Consequently, the patient was treated with gefitinib, a targeted therapy drug. Notably, the patient's lung metastases showed a gradual reduction in size, indicating a favorable treatment response. The patient is currently undergoing oral treatment with gefitinib. CONCLUSIONS: This case report highlights the potential benefit of combining immunotherapy and targeted therapy in the treatment of high-grade non-ITAC. Despite the rarity of this cancer type, this approach may offer an alternative treatment strategy for patients with this aggressive disease. We hope that this case can contribute to a deeper understanding of high-grade non-ITAC and promote the application of immunotherapy and targeted therapy in improving survival rates for patients with this condition.
Assuntos
Adenocarcinoma , Humanos , Masculino , Idoso , Adenocarcinoma/patologia , Adenocarcinoma/terapia , Adenocarcinoma/tratamento farmacológico , Neoplasias do Seio Maxilar/patologia , Neoplasias do Seio Maxilar/terapia , Neoplasias do Seio Maxilar/tratamento farmacológico , Terapia de Alvo Molecular , Imunoterapia/métodos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Anticorpos Monoclonais Humanizados/uso terapêutico , Anticorpos Monoclonais Humanizados/administração & dosagem , Gefitinibe/uso terapêutico , Seio Maxilar/patologia , Neoplasias dos Seios Paranasais/patologia , Neoplasias dos Seios Paranasais/terapia , Neoplasias dos Seios Paranasais/tratamento farmacológico , Gradação de TumoresRESUMO
Objective:To explore the imaging features of rare tumors of nasal cavity and sinuses, and to improve the understanding of these diseases, thereby aiding clinical diagnosis and treatment. Methods:The CT and MRI findings of 79 cases of rare neoplasm of nasal cavity and sinuses confirmed by pathology were retrospectively analyzed, and the imaging features were summarized. Results:Among the 79 cases, there were 16 cases of neuroendocrine carcinoma, most showing expansive and infiltrative bone destruction without hyperosteogeny and sclerosis. The sphenoid sinus exhibited a "pigeon" shape. In 28 cases of malignant melanoma, MRI signals were diverse, typical signals were rare, but mixed signals were more common. In 12 cases of rhabdomyosarcoma, MRI enhancement mostly showed "grape-like" enhancement and partial ring enhancement; There were 10 cases of olfactory neuroblastoma, the lesions were consistent with the distribution area of olfactory mucosa, most of them were lobulated, marginal nodules, and "flower ring" enhancement, and 2 cases grew across intracranial and external, with multiple cystic lesions and surrounding flaky edema bands. In 5 cases of solitary fibrous tumor, Benign tumors had regular shape and uniform density, while malignant tumors had irregular shape and uneven density, The enhancement was obviously uneven and showed a "pattern" change. There were 2 cases of sarcomatoid carcinoma, both with lobed appearance, uneven density, lamellar low-density shadow, and osteolytic bone destruction. In 4 cases of schwannoma, the enhancement showed obvious inhomogeneous enhancement. One case showed cystic necrosis, one case showed calcification, and the surrounding structure was compressed without damage. There was 1 case of neurofibroma, with many cystic components, low signal separation and compartmentalized enhancement. One case of paraganglioma showed moderate enhancement in the arterial phase and progressive enhancement in the venous phase, accompanied by significant swelling bone destruction. Conclusion:Rare tumors of nasal cavity and paranasal sinuses have distinctive imaging features. CT and MRI can effectively show the extent of the lesions and the degree of infiltration into adjacent tissues and organs, which is helpful for early clinical diagnosis and staging. However, definitive diagnosis still depends on pathology and immunohistochemistry.
Assuntos
Imageamento por Ressonância Magnética , Cavidade Nasal , Neoplasias Nasais , Neoplasias dos Seios Paranasais , Tomografia Computadorizada por Raios X , Humanos , Cavidade Nasal/diagnóstico por imagem , Cavidade Nasal/patologia , Estudos Retrospectivos , Imageamento por Ressonância Magnética/métodos , Neoplasias Nasais/diagnóstico por imagem , Neoplasias Nasais/patologia , Neoplasias dos Seios Paranasais/diagnóstico por imagem , Neoplasias dos Seios Paranasais/patologia , Masculino , Rabdomiossarcoma/diagnóstico por imagem , Rabdomiossarcoma/patologia , Feminino , Carcinoma Neuroendócrino/diagnóstico por imagem , Carcinoma Neuroendócrino/patologia , Pessoa de Meia-Idade , Seios Paranasais/diagnóstico por imagem , Seios Paranasais/patologia , Melanoma/diagnóstico por imagem , Melanoma/patologia , Adulto , Tumores Fibrosos Solitários/diagnóstico por imagem , Tumores Fibrosos Solitários/patologia , Adulto Jovem , IdosoAssuntos
Carcinoma de Células Escamosas , Endoscopia , Neoplasias dos Seios Paranasais , Humanos , Endoscopia/métodos , Carcinoma de Células Escamosas/cirurgia , Carcinoma de Células Escamosas/mortalidade , Carcinoma de Células Escamosas/patologia , Neoplasias dos Seios Paranasais/cirurgia , Neoplasias dos Seios Paranasais/mortalidade , Neoplasias dos Seios Paranasais/patologia , Taxa de Sobrevida , Hospitais com Alto Volume de Atendimentos/estatística & dados numéricos , Hospitais com Baixo Volume de Atendimentos/estatística & dados numéricosRESUMO
Primary sinonasal mucosal melanoma is a rare aggressive malignancy. In this video, a case of a 68-year-old female who presented with diplopia for 2 weeks is described. The present video reports the endoscopic endonasal surgical excision of a primary sinonasal mucosal melanoma. The video contains patient's medical history, preoperative radiological evaluations and step-by-step description of surgical steps of the procedure with the utilization of computer-assisted navigation system.
Assuntos
Melanoma , Mucosa Nasal , Invasividade Neoplásica , Neoplasias dos Seios Paranasais , Humanos , Melanoma/cirurgia , Melanoma/patologia , Feminino , Idoso , Neoplasias dos Seios Paranasais/cirurgia , Neoplasias dos Seios Paranasais/patologia , Neoplasias dos Seios Paranasais/diagnóstico por imagem , Mucosa Nasal/patologia , Mucosa Nasal/cirurgia , Endoscopia/métodos , Neoplasias Orbitárias/cirurgia , Neoplasias Orbitárias/patologia , Neoplasias Orbitárias/diagnóstico por imagem , Ressecção Endoscópica de Mucosa/métodosRESUMO
BACKGROUND: Sinonasal mucosal melanoma (SNMM) is a rare but aggressive tumor with a poor prognosis. The co-inhibitory receptors T cell immunoglobulin and mucinodomain containing-3 (TIM-3), lymphocyte activation gene-3 (LAG-3) and T cell immunoglobulin and immunoreceptor tyrosine-based inhibitory motif domain (TIGIT) are promising new targets in anti-cancer immunotherapy. The expression profiles of these immune checkpoint molecules (ICMs) and potential prognostic implications have not been characterized in SNMM yet. METHODS: Immunohistochemical staining for TIGIT, LAG-3 and TIM-3 was performed on tumor tissue samples from 27 patients with primary SNMM. Associations between ICM expression and demographic parameters, AJCC tumor stage, overall survival, and recurrence-free survival were retrospectively analyzed. RESULTS: SNMM patients with low numbers of TIGIT+ and TIM-3+ tumor infiltrating lymphocytes (TILs) in the primary tumor survived significantly longer than patients with a high degree of TIGIT+ and TIM-3+ TILs. High infiltration with TIM-3+ or TIGIT+ lymphocytes was associated with the higher T4 stage and decreased 5-year survival. CONCLUSION: We identified high densities of TIM-3+ and TIGIT+ TILs as strong negative prognostic biomarkers in SNMM. This suggests that TIM-3 and TIGIT contribute to immunosuppression in SNMM and provides a rationale for novel treatment strategies based on this next generation of immune checkpoint inhibitors. Prospective studies with larger case numbers are warranted to confirm our findings and their implications for immunotherapy.
Assuntos
Receptor Celular 2 do Vírus da Hepatite A , Linfócitos do Interstício Tumoral , Melanoma , Receptores Imunológicos , Humanos , Receptor Celular 2 do Vírus da Hepatite A/metabolismo , Masculino , Receptores Imunológicos/metabolismo , Receptores Imunológicos/análise , Linfócitos do Interstício Tumoral/imunologia , Linfócitos do Interstício Tumoral/metabolismo , Feminino , Pessoa de Meia-Idade , Melanoma/patologia , Melanoma/imunologia , Melanoma/mortalidade , Melanoma/metabolismo , Idoso , Prognóstico , Adulto , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/metabolismo , Estudos Retrospectivos , Idoso de 80 Anos ou mais , Neoplasias dos Seios Paranasais/patologia , Neoplasias dos Seios Paranasais/imunologia , Neoplasias dos Seios Paranasais/metabolismo , Neoplasias dos Seios Paranasais/mortalidade , Mucosa Nasal/patologia , Mucosa Nasal/imunologia , Mucosa Nasal/metabolismoAssuntos
Células Dendríticas , Neoplasias Nasais , Proteína EWS de Ligação a RNA , Translocação Genética , Humanos , Proteína EWS de Ligação a RNA/genética , Células Dendríticas/patologia , Feminino , Adulto , Neoplasias Nasais/genética , Neoplasias Nasais/patologia , Neoplasias Nasais/metabolismo , Proteínas de Ligação a RNA/genética , Proteínas de Ligação a RNA/metabolismo , Neoplasias dos Seios Paranasais/genética , Neoplasias dos Seios Paranasais/patologia , Cromossomos Humanos Par 22/genética , Proteínas de Ligação a Calmodulina/genética , Proteínas de Ligação a Calmodulina/metabolismoAssuntos
Infecções por Papillomavirus , Neoplasias dos Seios Paranasais , Humanos , Feminino , Infecções por Papillomavirus/virologia , Neoplasias dos Seios Paranasais/virologia , Neoplasias dos Seios Paranasais/patologia , Neoplasias dos Seios Paranasais/genética , Idoso de 80 Anos ou mais , Carcinoma Adenoide Cístico/patologia , Carcinoma Adenoide Cístico/virologia , Inibidor p16 de Quinase Dependente de Ciclina/metabolismo , Papillomaviridae/genética , Fatores de Transcrição SOXERESUMO
BACKGROUND: Sinonasal malignancies with orbital invasion have dismal prognosis even when treated with orbital exenteration (OE). Sugawara et al. developed a surgical strategy called "extended-OE (EOE)," showing encouraging outcomes. We hypothesized that a similar resection is achievable under endoscopic guidance through the exenterated orbit (endoscopic-EOE). METHODS: The study was conducted in three institutions: University of Vienna; Mayo Clinic; University of Insubria; 48 orbital dissections were performed. A questionnaire was developed to evaluate feasibility and safety of each step, scoring from 1 to 10, ("impossible" to "easy," and "high risk" to "low risk," respectively), most likely complication(s) were hypothesized. RESULTS: The step-by-step technique is thoroughly described. The questionnaire was answered by 25 anterior skull base surgeons from six countries. Mean, median, range, and interquartile range of both feasibility and safety scores are reported. CONCLUSIONS: Endoscopic-EOE is a challenging but feasible procedure. Clinical validation is required to assess real-life outcomes.
Assuntos
Endoscopia , Estudos de Viabilidade , Exenteração Orbitária , Humanos , Endoscopia/métodos , Inquéritos e Questionários , Neoplasias dos Seios Paranasais/cirurgia , Neoplasias dos Seios Paranasais/patologia , Neoplasias Orbitárias/cirurgia , Feminino , Masculino , Invasividade Neoplásica/patologiaRESUMO
BACKGROUND: We report a nasal cavity unusual perivascular epithelioid cell tumor (PEComa) mimicking mucosal melanoma. METHODS: Immunohistochemistry was performed using BenchMark Ultra and panel of antibodies. The Ion Torrent platform and Ion AmpliSeq cancer hotspot panel were utilized for DNA genotyping. Target-specific RNA libraries for the detection of fusion transcripts were constructed using Archer Universal RNA Reagent Kit v2 and Archer FusionPlex Solid Tumor panel and sequenced on the MiSeqDx instrument. RESULTS: The tumor, diagnosed in 46-year-old female, was composed of spindle cells, and lacked pigmentation. Immunohistochemically, it showed a patchy HMB-45 positivity. Other melanocytic markers (S100 protein, Melan-A, SOX10) were negative. The tumor cells were weakly positive for KIT (CD117) while negative for smooth muscle actin, pancytokeratin cocktail (AE1/AE3), and synaptophysin. Diagnosis of primary sinonasal tract mucosal melanoma was favored. Additional molecular studies detected PRCC :: TFE3 fusion as the sole genetic change, and suggested the diagnosis of unusual PEComa. Previously, TFE3 fusions were reported in a subset of PEComas but not in melanomas, while PRCC involvement has only been documented once in an ocular PEComa. Immunohistochemistry revealed strong nuclear TFE3 expression concordant with the molecular findings. CONCLUSIONS: This report emphasis the importance of molecular testing in the differential diagnosis between PEComa and melanoma, especially when the tumor arises in a site typical of melanoma but showing an unusual morphology and immunophenotype. The detection of TFE3 fusion transcripts suggested the diagnosis of SNT PEComa, although it cannot be excluded that this and similar tumors represent a distinct diagnostic category.
Assuntos
Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos , Melanoma , Neoplasias de Células Epitelioides Perivasculares , Humanos , Feminino , Neoplasias de Células Epitelioides Perivasculares/diagnóstico , Neoplasias de Células Epitelioides Perivasculares/patologia , Neoplasias de Células Epitelioides Perivasculares/metabolismo , Neoplasias de Células Epitelioides Perivasculares/genética , Melanoma/diagnóstico , Melanoma/metabolismo , Melanoma/patologia , Melanoma/genética , Pessoa de Meia-Idade , Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos/metabolismo , Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos/genética , Diagnóstico Diferencial , Imuno-Histoquímica , Biomarcadores Tumorais/metabolismo , Biomarcadores Tumorais/genética , Proteínas de Fusão Oncogênica/genética , Proteínas de Fusão Oncogênica/metabolismo , Neoplasias dos Seios Paranasais/diagnóstico , Neoplasias dos Seios Paranasais/genética , Neoplasias dos Seios Paranasais/patologia , Neoplasias dos Seios Paranasais/metabolismo , Neoplasias Nasais/diagnóstico , Neoplasias Nasais/patologia , Neoplasias Nasais/genética , Neoplasias Nasais/metabolismoRESUMO
ALK-positive anaplastic large cell lymphoma is a rare T-cell lymphoma with ALK gene rearrangement that develops in children and young adults. The disease almost always affects the lymph nodes, and extranodal areas are also frequently involved. This article describes two cases of atypical localization of ALK-positive anaplastic large cell lymphoma with involvement of the paranasal sinuses.
Assuntos
Quinase do Linfoma Anaplásico , Linfoma Anaplásico de Células Grandes , Humanos , Linfoma Anaplásico de Células Grandes/genética , Linfoma Anaplásico de Células Grandes/patologia , Linfoma Anaplásico de Células Grandes/diagnóstico , Quinase do Linfoma Anaplásico/genética , Masculino , Feminino , Adulto , Neoplasias dos Seios Paranasais/patologia , Neoplasias dos Seios Paranasais/genética , Neoplasias dos Seios Paranasais/metabolismo , Neoplasias dos Seios Paranasais/diagnóstico , Rearranjo GênicoAssuntos
Imagem Multimodal , Papiloma Invertido , Neoplasias dos Seios Paranasais , Humanos , Neoplasias dos Seios Paranasais/diagnóstico por imagem , Neoplasias dos Seios Paranasais/patologia , Neoplasias dos Seios Paranasais/diagnóstico , Papiloma Invertido/diagnóstico por imagem , Papiloma Invertido/patologia , Papiloma Invertido/diagnóstico , Imageamento por Ressonância Magnética , Tomografia Computadorizada por Raios X , Masculino , Feminino , Pessoa de Meia-IdadeRESUMO
The mechanism and predictive biomarkers of sinonasal inverted papilloma (IP) transformation into squamous cell carcinoma (SCC) are still unclear. We investigated the genetic mutations involved and the predictive biomarkers. Fourteen patients with SCC arising from IP and six patients with IPs without malignant transformation (sIP) were included. DNA was extracted separately from areas of normal tissue, IP, dysplasia, and SCC. Whole exome sequencing and immunohistochemistry was performed. Major oncogenic mutations were observed in the progression from IP to SCC. The most frequently mutated genes were TP53 (39%) and CDKN2A (27%). Mutations in TP53 and/or CDKN2A were observed in three of six IPs with malignant transformation (cIP); none were observed in sIPs. Tumor mutational burden (TMB) increased from IP to SCC (0.64/Mb, 1.11/Mb, and 1.25 for IP, dysplasia, and SCC, respectively). TMB was higher in the cIPs than in the sIPs (0.64/Mb vs 0.3/Mb). Three cIPs showed a diffuse strong or null pattern in p53, and one showed a total loss of p16, a distinct pattern from sIPs. Our result suggests that TP53 and CDKN2A status can be predictive markers of malignant transformation of IP. Furthermore, immunohistochemistry of p53 and p16 expression can be surrogate markers for TP53 and CDKN2A status.
Assuntos
Biomarcadores Tumorais , Transformação Celular Neoplásica , Inibidor p16 de Quinase Dependente de Ciclina , Papiloma Invertido , Proteína Supressora de Tumor p53 , Humanos , Papiloma Invertido/genética , Papiloma Invertido/patologia , Papiloma Invertido/metabolismo , Proteína Supressora de Tumor p53/genética , Proteína Supressora de Tumor p53/metabolismo , Inibidor p16 de Quinase Dependente de Ciclina/genética , Inibidor p16 de Quinase Dependente de Ciclina/metabolismo , Masculino , Feminino , Transformação Celular Neoplásica/genética , Transformação Celular Neoplásica/metabolismo , Pessoa de Meia-Idade , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Idoso , Neoplasias dos Seios Paranasais/genética , Neoplasias dos Seios Paranasais/patologia , Neoplasias dos Seios Paranasais/metabolismo , Mutação , Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/metabolismo , Adulto , Idoso de 80 Anos ou mais , Sequenciamento do Exoma , Imuno-HistoquímicaRESUMO
A patient in his 20s presented with a change in the appearance of his left eye with evidence of relative afferent pupillary defect. Imaging revealed a giant frontoethmoidal osteoma, a benign sinonasal tumour, invading three-quarters of the orbit. Multidisciplinary discussion involving opthalmology, maxillofacial surgery, neurosurgery and otolaryngology resulted in the decision to attempt entirely endoscopic excision of this lesion, which was performed with successful outcomes. This case demonstrates how a sinonasal osteoma should be considered in the differential diagnosis for a patient presenting with proptosis or other eye signs suggestive of compression of the orbital compartment. This case report and literature review highlights the possibility of managing giant sinonasal osteomas with orbital extension through a completely endoscopic approach.