RESUMO
PURPOSE: To assess the prevalence and subtypes of Human Papillomavirus (HPV) in Ocular Surface Squamous Neoplasia (OSSN) in Human Immunodeficiency Virus (HIV) positive and negative patients in South Africa. BASIC PROCEDURES: This study was a single center retrospective cross-sectional study, conducted at Tygerberg Hospital, Western Cape, South Africa. We assessed 63 histopathologically confirmed OSSN formalin-fixed paraffin-embedded (FFPE) tissue blocks from 2015-2023. The presence of HPV was determined using the Hybrispot Direct Flow Chip Kit. Corresponding clinical data was retrieved from the National Health Laboratory Service (NHLS) central data warehouse. MAIN FINDINGS: Of the confirmed OSSN samples, 66.7% tested positive for HPV (95% confidence interval [CI] 54-77.3%). Of the 42 HPV positive samples, 38 (90.5%) had one or more known genotypes detected and 4 had unknown genotypes. The most prevalent subtypes were HPV 11, 16 and 18 (found in 61.9%, 52.4% and 33.3% of HPV positive samples respectively). 88.9% of the lesions biopsied were from HIV positive patients, of whom 56.4% had a CD4 + count of < 200 cells/µL. A lower median CD4 + count was detected among HIV positive patients with invasive squamous cell carcinoma compared to those with moderate dysplasia (p < 0.0198). CONCLUSIONS: There is a high prevalence of HPV in OSSN in South Africa. Certain subtypes namely, 11, 16, 18, 31, 33 and 35 may be more carcinogenic. HIV with HPV co-infection may be linked as a causative factor in the development of OSSN.
Assuntos
Infecções por HIV , Papillomaviridae , Infecções por Papillomavirus , Humanos , África do Sul/epidemiologia , Masculino , Feminino , Infecções por Papillomavirus/epidemiologia , Infecções por Papillomavirus/virologia , Prevalência , Pessoa de Meia-Idade , Estudos Transversais , Estudos Retrospectivos , Infecções por HIV/epidemiologia , Infecções por HIV/complicações , Infecções por HIV/virologia , Adulto , Papillomaviridae/genética , Papillomaviridae/isolamento & purificação , Idoso , Neoplasias Oculares/epidemiologia , Neoplasias Oculares/virologia , Carcinoma de Células Escamosas/virologia , Carcinoma de Células Escamosas/epidemiologia , Genótipo , Papillomavirus HumanoRESUMO
BACKGROUND: Ocular adnexal (OA) sebaceous carcinoma is an aggressive malignancy. Oncologic drivers of ocular sebaceous carcinoma are incompletely understood. METHODS: A retrospective search of our pathology archives for OA sebaceous carcinoma identified 18 primary resection specimens. Immunohistochemistry for p16 and ZEB1 and RNA in situ hybridization for high-risk human papillomavirus (HPV) subtypes were performed. RESULTS: High-risk HPV was demonstrated in 2/11 (18%) cases. p16 overexpression was observed in 10/11 (91%). No association between gender, age at presentation, tumor location, intraepithelial spread, tumor size, and T stage was observed between HPV-driven and nonviral cases. High expression of ZEB1 was observed in the intraepithelial component of 4/14 (28%) cases and in the subepithelial component of 1/13 (7%) cases. ZEB1 overexpression was not associated with HPV status, T stage, or tumor size. CONCLUSION: As previously described by others, our findings suggest that a subset of OA sebaceous carcinomas may arise via an HPV-dependent pathway. However, unlike high-risk HPV-driven carcinomas of the oropharynx, we did not identify an association between HPV-status and prognostic features. Furthermore, p16 expression was not a useful surrogate marker for HPV-driven disease. ZEB1 overexpression is not associated with HPV in our cohort of ocular sebaceous carcinoma.
Assuntos
Adenocarcinoma Sebáceo/diagnóstico , Neoplasias Oculares/patologia , Neoplasias das Glândulas Sebáceas/patologia , Homeobox 1 de Ligação a E-box em Dedo de Zinco/genética , Adenocarcinoma Sebáceo/genética , Adenocarcinoma Sebáceo/virologia , Idoso , Idoso de 80 Anos ou mais , Alphapapillomavirus/genética , Estudos de Coortes , Inibidor p16 de Quinase Dependente de Ciclina/genética , DNA Viral/genética , Neoplasias Oculares/genética , Neoplasias Oculares/virologia , Feminino , Humanos , Imuno-Histoquímica/métodos , Hibridização In Situ/métodos , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias/métodos , Estudos Retrospectivos , Neoplasias das Glândulas Sebáceas/genética , Neoplasias das Glândulas Sebáceas/virologiaRESUMO
The COVID-19 pandemic has had an unprecedented impact on the National Health Service in United Kingdom. The UK Ocular Oncology Services evaluated the impact on the adult eye cancer care in the UK. All four adult Ocular Oncology centres participated in a multicentre retrospective review comparing uveal melanoma referral patterns and treatments in a 4-month period during the national lockdown and first wave of the COVID-19 pandemic in 2020 with corresponding periods in previous 2 years. During the national lockdown, referral numbers and confirmed uveal melanoma cases reduced considerably, equalling to ~120 fewer diagnosed uveal melanoma cases compared to previous 2 years. Contrary to the recent trend, increased caseloads of enucleation and stereotactic radiosurgery (p > 0.05), in comparison to fewer proton beam therapy (p < 0.05), were performed. In the 4-month period following lockdown, there was a surge in clinical activities with more advanced diseases (p < 0.05) presenting to the services. As the COVID-19 pandemic continues to mount pressure and reveal its hidden impact on the eye cancer care, it is imperative for the Ocular Oncology Services to plan recovery strategies and innovative ways of working.
Assuntos
COVID-19/epidemiologia , Neoplasias Oculares/epidemiologia , Melanoma/epidemiologia , Pandemias , Neoplasias Uveais/epidemiologia , COVID-19/complicações , COVID-19/terapia , COVID-19/virologia , Controle de Doenças Transmissíveis/métodos , Neoplasias Oculares/complicações , Neoplasias Oculares/terapia , Neoplasias Oculares/virologia , Humanos , Melanoma/complicações , Melanoma/terapia , Melanoma/virologia , Terapia com Prótons/métodos , SARS-CoV-2/patogenicidade , Medicina Estatal , Reino Unido/epidemiologia , Neoplasias Uveais/complicações , Neoplasias Uveais/terapia , Neoplasias Uveais/virologiaRESUMO
Helicobacter pylori has been proposed as a possible etiologic factor of ocular adnexa lymphoma (OAL), although with conflicting results. To assess the involvement of H. pylori in OAL, as (1) H. pylori DNA positivity on OAL specimens, and (2) prevalence of H. pylori gastric infection in patients with OAL. A systematic review of studies assessing H. pylori in patients with OAL was conducted by searching electronic databases from their inception to May 2019. Pooled positivity for H. pylori in OAL specimens detected by polymerase chain reaction, and pooled prevalence of H. pylori gastric infection, were calculated with 95% confidence interval (CI). Eleven studies with 308 patients were included. Pooled positivity for H. pylori was 16.8% in all OALs and 22.7% in MALT OAL, with high heterogeneity among studies. Pooled prevalence of H. pylori gastric infection in patients with OAL was 34.7%, with low statistical heterogeneity. In conclusion, H. pylori seems to be involved in a subset of OAL, but the heterogeneity found needs to be investigated in further studies. The prevalence of H. pylori gastric infection in patients with OAL does not seem to differ from that of the general population.
Assuntos
Neoplasias Oculares/virologia , Infecções por Helicobacter/complicações , Helicobacter pylori/isolamento & purificação , Linfoma/virologia , Neoplasias Oculares/epidemiologia , Infecções por Helicobacter/virologia , Humanos , Linfoma/epidemiologia , PrognósticoRESUMO
SARS-CoV-2 is assumed to use angiotensin-converting enzyme 2 (ACE2) and other auxiliary proteins for cell entry. Recent studies have described conjunctival congestion in 0.8% of patients with laboratory-confirmed severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), and there has been speculation that SARS-CoV-2 can be transmitted through the conjunctiva. However, it is currently unclear whether conjunctival epithelial cells express ACE2 and its cofactors. In this study, a total of 38 conjunctival samples from 38 patients, including 12 healthy conjunctivas, 12 melanomas, seven squamous cell carcinomas, and seven papilloma samples, were analyzed using high-throughput RNA sequencing to assess messenger RNA (mRNA) expression of the SARS-CoV-2 receptor ACE2 and its cofactors including TMPRSS2, ANPEP, DPP4, and ENPEP. ACE2 protein expression was assessed in eight healthy conjunctival samples using immunohistochemistry. Our results show that the SARS-CoV-2 receptor ACE2 is not substantially expressed in conjunctival samples on the mRNA (median: 0.0 transcripts per million [TPM], min: 0.0 TPM, max: 1.7 TPM) and protein levels. Similar results were obtained for the transcription of other auxiliary molecules. In conclusion, this study finds no evidence for a significant expression of ACE2 and its auxiliary mediators for cell entry in conjunctival samples, making conjunctival infection with SARS-CoV-2 via these mediators unlikely.
Assuntos
COVID-19/virologia , Carcinoma de Células Escamosas/virologia , Neoplasias Oculares/virologia , Melanoma/virologia , Papiloma/virologia , Receptores Virais/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Enzima de Conversão de Angiotensina 2/genética , Enzima de Conversão de Angiotensina 2/metabolismo , COVID-19/complicações , COVID-19/patologia , COVID-19/cirurgia , Carcinoma de Células Escamosas/complicações , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/cirurgia , Estudos de Casos e Controles , Túnica Conjuntiva/patologia , Túnica Conjuntiva/cirurgia , Dipeptidil Peptidase 4/genética , Dipeptidil Peptidase 4/metabolismo , Neoplasias Oculares/complicações , Neoplasias Oculares/patologia , Neoplasias Oculares/cirurgia , Expressão Gênica , Glutamil Aminopeptidase/genética , Glutamil Aminopeptidase/metabolismo , Humanos , Imuno-Histoquímica , Masculino , Melanoma/complicações , Melanoma/patologia , Melanoma/cirurgia , Pessoa de Meia-Idade , Papiloma/complicações , Papiloma/patologia , Papiloma/cirurgia , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Receptores Virais/metabolismo , SARS-CoV-2/genética , SARS-CoV-2/metabolismo , Serina Endopeptidases/genética , Serina Endopeptidases/metabolismoRESUMO
Post-transplant lymphoproliferative disorder (PTLD) is an uncommon but fatal complication following both solid organ and hematologic stem cell transplantations. Epstein-Barr virus (EBV) has been considered a main etiologic agent causing PTLD, especially in the first year after transplantation. Extranodal manifestations are frequently found in PTLD; however, naso-orbital involvement in adults is rare. We report a case of EBV-associated PTLD of the naso-orbital region in a 72-year-old patient that occurred 10 years after kidney transplant. Six additional adults with naso-orbital PTLD were identified after completing this literature review, including 2 cases with eyelid swelling, 3 cases with proptosis, and 1 case with facial numbness. The majority of cases occurred after 1 year of transplantation and were associated with EBV. This report emphasizes recognizing PTLD as differential diagnosis in transplant recipients who present with naso-orbital symptoms.
Assuntos
Infecções por Vírus Epstein-Barr/complicações , Transplante de Rim/efeitos adversos , Transtornos Linfoproliferativos/patologia , Idoso , Infecções por Vírus Epstein-Barr/imunologia , Neoplasias Oculares/imunologia , Neoplasias Oculares/patologia , Neoplasias Oculares/virologia , Humanos , Hospedeiro Imunocomprometido , Aparelho Lacrimal/patologia , Transtornos Linfoproliferativos/imunologia , Transtornos Linfoproliferativos/virologia , Masculino , Neoplasias Nasais/imunologia , Neoplasias Nasais/patologia , Neoplasias Nasais/virologia , TransplantadosRESUMO
OBJECTIVE: Hepatitis C virus (HCV) has been proposed as a possible etiologic factor in ocular adnexal marginal zone lymphoma (OAML). We aimed to assess the prevalence of HCV infection in patients with OAML through a systematic review and meta-analysis. METHODS: Electronic databases were searched from their inception to August 2019 for studies assessing HCV seroprevalence in patients with OAML. Pooled prevalence of HCV infection was calculated with 95 % confidence interval (CI). Statistical heterogeneity among studies was quantified via the inconsistency index (I2). Funnel plot symmetry was used to assess the risk of bias across studies. RESULTS: Nine studies with 360 patients were included. Overall pooled prevalence of HCV in OAML was 12.7 %, with low statistical heterogeneity (I2 = 17.4 %) and with asymmetrical funnel plot. The studies clustered into two groups: 5 studies (3 from Italy and 2 multicenter with a major Italian contribution) showed a higher HCV prevalence in OAML (15.6 %), while the other 4 (from countries other than Italy) showed a lower prevalence (4.7 %); in both subgroups, statistical heterogeneity was null (I2 = 0%) and funnel plot was symmetrical. CONCLUSION: HCV might be a significant etiologic factor of OAML in Italy.
Assuntos
Neoplasias Oculares/virologia , Hepatite C/epidemiologia , Linfoma de Zona Marginal Tipo Células B/virologia , Hepacivirus , Humanos , PrevalênciaRESUMO
The purpose of the study was to investigate the association between infectious agents and the development of cancer in the ocular adnexa. A comprehensive literary study was carried out, reviewing and summarizing previous reports on the topic. A broad range of malignancies of the ocular adnexa are associated with infectious agents. A strong association and possible causal relationship between the infectious agent and the development of ocular adnexal cancer are seen in Merkel cell carcinoma (Merkel cell polyomavirus), Burkitt lymphoma (Epstein-Barr virus) and Kaposi sarcoma (human herpesvirus 8). Infection with Chlamydia psittaci has been associated with the development of extranodal marginal zone B-cell lymphoma in Italy. Human papillomavirus infection has been associated with the development of squamous cell carcinomas of the ocular adnexa, although with a highly variable reported prevalence. By exploring the role of infectious agents in the ocular adnexa and the mechanism by which they contribute to oncogenesis, the diagnostics, management and prevention of these malignancies may also improve. Antibiotic treatment and vaccines against infectious agents may be valuable in future treatment. Additionally, the presence of infectious agents within the tumours may have a prognostic or predictive value.
Assuntos
Doenças Transmissíveis/complicações , Neoplasias Oculares/etiologia , Antibacterianos/uso terapêutico , Carcinoma de Células Escamosas/tratamento farmacológico , Carcinoma de Células Escamosas/etiologia , Carcinoma de Células Escamosas/microbiologia , Carcinoma de Células Escamosas/virologia , Doenças Transmissíveis/microbiologia , Doenças Transmissíveis/virologia , Neoplasias Oculares/tratamento farmacológico , Neoplasias Oculares/microbiologia , Neoplasias Oculares/virologia , Humanos , ItáliaAssuntos
Carcinoma de Células Escamosas/secundário , Neoplasias Oculares/secundário , Papillomavirus Humano 16/isolamento & purificação , Doenças do Aparelho Lacrimal/patologia , Infecções por Papillomavirus/diagnóstico , Neoplasias da Língua/patologia , Neoplasias Uveais/secundário , Carcinoma de Células Escamosas/terapia , Carcinoma de Células Escamosas/virologia , Corpo Ciliar/diagnóstico por imagem , Corpo Ciliar/patologia , Cisplatino/uso terapêutico , Terapia Combinada , Neoplasias Oculares/diagnóstico por imagem , Neoplasias Oculares/virologia , Evolução Fatal , Humanos , Iris/diagnóstico por imagem , Iris/patologia , Doenças do Aparelho Lacrimal/diagnóstico por imagem , Doenças do Aparelho Lacrimal/virologia , Imageamento por Ressonância Magnética , Masculino , Microscopia Acústica , Pessoa de Meia-Idade , Radioterapia de Intensidade Modulada , Neoplasias da Língua/terapia , Neoplasias da Língua/virologia , Neoplasias Uveais/diagnóstico por imagem , Neoplasias Uveais/virologiaRESUMO
Objective: To evaluate the clinicopathological features of ocular natural killer(NK)/T cell lymphoma. Methods: Data of 21 patients (22 eyes) with ocular NK/T cell lymphoma treated at Eye & ENT Hospital of Fudan University from January 2006 to March 2018 were retrospectively analyzed for clinical data, morphology, immunophenotype and outcomes. Results: There were 10 males and 11 females with ages from 3 to 77 years (mean, 43 years). There were 20 unilateral cases (10 left eyes and 10 right eyes) and 1 bilateral case. Except for 1 case of corneal perforation resulting from the involvement of the conjunctiva and cornea, the other cases all involved the orbit (including eyelids and conjunctiva) as demonstrated by radiologic studies, with the lacrimal sac involved in 3 cases, and the nasal cavity or maxillary sinus involved in 2 cases. Three patients had been previously diagnosed sinonasal NK/T cell lymphoma with radiotherapy and chemotherapy. Two patients had a history of ovarian NK/T cell lymphoma with chemotherapy. One patient had multiple ulcers of skin and mucosa at presentation. There were 13 primary ocular NK/T cell lymphomas without evidence of nasal or systemic involvement. All patients presented with eyelid swelling and decreased visual acuity. There were proptosis in 18 cases, motility restriction in 13 cases, eyelid ulceration in 3 cases, and fever in 4 cases. They had all been previously diagnosed as orbital pseudotumor or cellulitis and there was no response to steroids and antibiotics. Pathological examination showed atypical lymphoid infiltration with an angioinvasive growth pattern causing coagulative necrosis. Cytologically, the medium-sized neoplastic cells showed irregular folded nuclei. The neoplastic cells were positive for cytoplasmic CD3ε, CD56, and cytotoxic molecules and Epstein-Barr virus-encoded RNA (EBER) in situ hybridization. Seven patients were lost to follow-up. Ten patients died 2.0 to 17.0 months after diagnosis (mean, 6.3 months) despite treatment with chemotherapy and radiotherapy. Conclusions: Ocular NK/T cell lymphoma is a rare form of ocular lymphoma. There are primary NK/T cell lymphoma and secondary ocular NK/T cell lymphoma with nasal or systemic involvement. The rarity of this tumor and inflammatory signs make it challenging to identify these tumors early. The neoplastic cells are positive for cytoplasmic CD3ε, CD56, cytotoxic molecules and EBER in situ hybridization. Despite aggressive therapy, it demonstrates high lethality with poor prognosis. (Chin J Ophthalmol, 2019, 55: 374-380).
Assuntos
Infecções por Vírus Epstein-Barr/patologia , Neoplasias Oculares/patologia , Células Matadoras Naturais/patologia , Linfoma de Células B , Linfoma de Células T/patologia , Neoplasias Orbitárias/patologia , Neoplasias Cutâneas/patologia , Linfócitos T/patologia , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Infecções por Vírus Epstein-Barr/imunologia , Neoplasias Oculares/imunologia , Neoplasias Oculares/terapia , Neoplasias Oculares/virologia , Feminino , Humanos , Linfoma de Células T/imunologia , Linfoma de Células T/terapia , Linfoma de Células T/virologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Neoplasias Cutâneas/virologia , Resultado do Tratamento , Adulto JovemRESUMO
Human papillomavirus (HPV) infection has been implicated as a primary cause of lesions in the anogenital region, skin, oropharynx and respiratory tract. Additionally, the role of HPV in the pathogenesis of ocular surface disease has also been extensively studied. Conjunctival papilloma development has been strongly associated with the HPV infection of certain subtypes. On the other hand, the role of HPV in conjunctival pterygium, conjunctival intraepithelial neoplasia (CIN) and ocular surface squamous neoplasia (OSSN) remains controversial. Genetic predisposition and environmental factor is important in HPV hosts as regards the pathogenesis of ocular surface disease. Several studies have indicate a synergic role of HPV with ultraviolet radiation in pterygium establishment. A higher recurrence risk rate and more aggressive disease of ophthalmic pterygium is observed in cases of HPV infection. The purpose of this review was to provide a systematic review of the literature and to assist in a better understanding of the role of HPV in ocular surface disease.
Assuntos
Túnica Conjuntiva/anormalidades , Neoplasias Oculares/epidemiologia , Infecções por Papillomavirus/diagnóstico , Pterígio/epidemiologia , Carcinoma in Situ/virologia , Carcinoma de Células Escamosas/virologia , Túnica Conjuntiva/virologia , Neoplasias da Túnica Conjuntiva/virologia , Neoplasias Oculares/virologia , Humanos , Pterígio/virologiaRESUMO
The aim of this study was to identify the association between human papilloma virus (HPV) infection and ocular surface squamous neoplasia (OSSN) using p16 immunohistochemistry (IHC) and deoxyribonucleic acid (DNA) chip test.Thirty-eight patients who underwent surgical excision of OSSN were retrospectively studied using tissue samples. The IHC was performed to assess the expression of p16 and DNA chip test was used to detect 24 HPV serotypes.Among the 38 OSSN samples, 32 cases (84.2%) were histopathologically categorized as pre-invasive type and 6 cases (15.8%) as invasive type. The IHC for p16 showed strong positivity in 12 cases (31.6%), whereas it was negative in 26 cases (68.4%). On the other hand, only one case (2.6%) of invasive OSSN was positive for the HPV16 serotype, as assessed by DNA chip test.In OSSN, p16 expression was positive in approximately 1/3rd of the cases, whereas the majority of the 24 HPV serotypes were negative for p16. Our findings suggest that only a weak association exists between HPV infection and OSSN.
Assuntos
Neoplasias Oculares/epidemiologia , Infecções por Papillomavirus/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Neoplasias Oculares/virologia , Feminino , Genótipo , Papillomavirus Humano 16/genética , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Invasividade Neoplásica , Análise de Sequência com Séries de Oligonucleotídeos , Papillomaviridae/genética , Infecções por Papillomavirus/genética , Estudos Retrospectivos , Adulto JovemRESUMO
PURPOSE: Ocular adnexal (OA) sebaceous carcinoma is an aggressive malignancy of the eyelid and ocular adnexa that frequently recurs and metastasizes, and effective therapies beyond surgical excision are lacking. There remains a critical need to define the molecular-genetic drivers of the disease to understand carcinomagenesis and progression and to devise novel treatment strategies. EXPERIMENTAL DESIGN: We present next-generation sequencing of a targeted panel of cancer-associated genes in 42 and whole transcriptome RNA sequencing from eight OA sebaceous carcinomas from 29 patients. RESULTS: We delineate two potentially distinct molecular-genetic subtypes of OA sebaceous carcinoma. The first is defined by somatic mutations impacting TP53 and/or RB1 [20/29 (70%) patients, including 10 patients whose primary tumors contained coexisting TP53 and RB1 mutations] with frequent concomitant mutations affecting NOTCH genes. These tumors arise in older patients and show frequent local recurrence. The second subtype [9/29 (31%) patients] lacks mutations affecting TP53, RB1, or NOTCH family members, but in 44% (4/9) of these tumors, RNA sequencing and in situ hybridization studies confirm transcriptionally active high-risk human papillomavirus. These tumors arise in younger patients and have not shown local recurrence. CONCLUSIONS: Together, our findings establish a potential molecular-genetic framework by which to understand the development and progression of OA sebaceous carcinoma and provide key molecular-genetic insights to direct the design of novel therapeutic interventions.
Assuntos
Neoplasias Oculares/genética , Infecções por Papillomavirus/genética , Proteínas de Ligação a Retinoblastoma/genética , Proteína Supressora de Tumor p53/genética , Ubiquitina-Proteína Ligases/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Cisto Epidérmico/genética , Cisto Epidérmico/patologia , Cisto Epidérmico/virologia , Neoplasias Oculares/patologia , Neoplasias Oculares/virologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Neoplasias de Anexos e de Apêndices Cutâneos/genética , Neoplasias de Anexos e de Apêndices Cutâneos/patologia , Neoplasias de Anexos e de Apêndices Cutâneos/virologia , Papillomaviridae/patogenicidade , Infecções por Papillomavirus/patologia , Infecções por Papillomavirus/virologia , Receptores Notch/genética , Análise de Sequência de RNA , Sequenciamento do ExomaRESUMO
CONTEXT: - Human papillomavirus (HPV) has a well-known role in the pathogenesis of squamous cell carcinoma and precursor lesions of the cervix, anogenital region, and head and neck, but its role in the development of squamous neoplasms of the eye, particularly the conjunctiva, remains unclear. OBJECTIVE: - To review recent evidence implicating HPV in the pathophysiology of ocular lesions. DATA SOURCES: - Published articles obtained from a PubMed search of the English literature were the primary sources for this review. CONCLUSIONS: - The low-risk HPV types 6 and 11 appear to play a role in the development of at least a subset of conjunctival squamous papillomas. The role of HPV in the pathogenesis of pterygium and ocular surface squamous neoplasia is less well defined. There is evidence to suggest that HPV may be a cofactor in the development of these lesions, acting in concert with ultraviolet radiation and/or human immunodeficiency virus infection in a subgroup of cases.
Assuntos
Carcinoma de Células Escamosas/virologia , Neoplasias Oculares/virologia , Papillomaviridae/fisiologia , Infecções por Papillomavirus/virologia , Pterígio/virologia , Carcinoma de Células Escamosas/fisiopatologia , Neoplasias da Túnica Conjuntiva/fisiopatologia , Neoplasias da Túnica Conjuntiva/virologia , Neoplasias Oculares/fisiopatologia , Papillomavirus Humano 11/fisiologia , Papillomavirus Humano 16/fisiologia , Humanos , Papiloma/fisiopatologia , Papiloma/virologia , Infecções por Papillomavirus/fisiopatologia , Pterígio/fisiopatologia , Raios UltravioletaAssuntos
Síndrome da Imunodeficiência Adquirida/complicações , Carcinoma de Células Escamosas/patologia , Neoplasias Oculares/patologia , Síndrome da Imunodeficiência Adquirida/patologia , Adulto , Carcinoma de Células Escamosas/terapia , Carcinoma de Células Escamosas/virologia , Neoplasias Oculares/terapia , Neoplasias Oculares/virologia , Humanos , MasculinoRESUMO
Epstein-Barr virus-associated undifferentiated (lymphoepithelial) carcinoma is a malignancy that most commonly arises in the nasopharynx but can also occur in other locations including the lacrimal sac. Generally, this tumor strongly expresses cytokeratin, making the diagnosis straightforward. In the absence of confirmatory immunohistochemistry, the diagnosis can be problematic, particularly for tumors arising in unusual locations. Only 3 cases arising in the lacrimal sac in association with Epstein-Barr virus have been reported in the English literature, and all showed typical pathologic findings. The authors report a fourth case, unique in that it showed negative immunostaining for all cytokeratins tested. The clue to the nature of the tumor came from identification of Epstein-Barr virus by in-situ hybridization and demonstration of tonofilaments by electron microscopy. This case demonstrates that a multimodal approach may be needed in the diagnosis of Epstein-Barr virus-associated carcinoma, especially when occurring in uncommon locations.
Assuntos
Carcinoma de Células Escamosas/patologia , Infecções por Vírus Epstein-Barr/diagnóstico , Neoplasias Oculares/patologia , Doenças do Aparelho Lacrimal/patologia , Idoso , Carcinoma de Células Escamosas/virologia , Neoplasias Oculares/virologia , Feminino , Herpesvirus Humano 4/isolamento & purificação , Humanos , Queratinas/metabolismo , Doenças do Aparelho Lacrimal/virologiaRESUMO
High-risk human papilloma virus (HR-HPV) is a well-established causative agent of oropharyngeal squamous cell carcinoma (SCC). In addition, HR-HPV has occasionally been reported to be present in dysplastic and malignant lesions of the conjunctiva and lacrimal sac, although its overall incidence and etiological role in periocular SCC are controversial. Sequential surgical samples of 52 combined cases of invasive SCC (I-SCC) and SCC in situ (SCCIS) from 2 periocular sites (conjunctiva and lacrimal sac) diagnosed over a 14-year period (2000 to 2014) were selected for evaluation, and relevant patient characteristics were documented. p16 immunohistochemistry was performed as a screening test. All p16-positive cases were further evaluated for HR-HPV using DNA in situ hybridization (DNA ISH), and a subset was also analyzed by polymerase chain reaction (PCR). Of 43 ocular surface squamous neoplasias (OSSNs), 30% (n=13; 8 SCCIS and 5 I-SCC cases) were positive for HR-HPV. HPV-positive OSSNs occurred in 8 men and 5 women with a mean age of 60 years (range, 39 to 94 y). HPV type-16 was detected in all conjunctival cases evaluated by PCR. All 5 conjunctival I-SCCs were nonkeratinizing (n=4) or partially keratinizing (n=1) and managed by simple excision. In contrast, HPV-negative conjunctival I-SCCs were predominantly keratinizing (11 keratinizing and 2 nonkeratinizing). Of 9 lacrimal sac I-SCCs (LSSCCs), 66.7% (n=6) were positive for HR-HPV by p16 and DNA ISH; HPV subtypes were HPV-16 (n=5) and HPV-58 (n=1). In addition, 2 p16-positive cases with negative DNA ISH results were HR-HPV positive (HPV-16 and HPV-33) when evaluated by PCR, suggesting that the rate of HR-HPV positivity among the LSSCCs may be as high as 89% (n=8). The combined group of HR-HPV-positive LSSCCs was seen in 4 men and 4 women with a mean age of 60 years (range, 34 to 71 y). Seven of the 8 HPV-positive LSSCCs (87.5%) had a nonkeratinizing or partially keratinizing histomorphology, whereas 1 case (12.5%) was predominantly keratinizing. The presence of HR-HPV in 30% of OSSNs and at least 66.7% of LSSCCs suggests the possibility of an etiologic role for HR-HPV at these sites.
Assuntos
Carcinoma in Situ/virologia , Carcinoma de Células Escamosas/virologia , Neoplasias da Túnica Conjuntiva/virologia , Ducto Nasolacrimal/virologia , Infecções por Papillomavirus/complicações , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma de Células Escamosas/patologia , Neoplasias da Túnica Conjuntiva/patologia , Neoplasias Oculares/patologia , Neoplasias Oculares/virologia , Feminino , Papillomavirus Humano 16 , Humanos , Imuno-Histoquímica , Hibridização In Situ , Masculino , Pessoa de Meia-Idade , Ducto Nasolacrimal/patologia , Infecções por Papillomavirus/epidemiologia , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Lesões Pré-Cancerosas/patologia , Lesões Pré-Cancerosas/virologiaRESUMO
Epstein-Barr virus (EBV) has oncogenic potential and has been implicated in the etiology of a wide range of malignancies. Certain EBV-driven neoplasms, such as smooth muscle tumors (SMTs), manifest typically in immunocompromised patients. In children, these neoplasms have been encountered in the setting of primary immune disorders, specifically severe combined and common variable immunodeficiency syndromes. Human immunodeficiency virus infection and posttransplant immunosuppression, in particular liver and kidney transplantation, likewise increase the risk in the pediatric population. The location of these neoplasms appears related to the type of immunodeficiency: in acquired immunodeficiency syndrome they are frequently located intracranially or intraspinally, whereas after transplant they usually involve the liver or lung. We report 2 distinct cases of EBV-related SMT, unique through their coassociated immunosuppressive state or location: the 1st occurred in a patient with immunodeficiency secondary to NEMO gene mutation following hematopoietic stem cell transplantation; the 2nd developed in the orbit after heart transplant.
Assuntos
Neoplasias Oculares/virologia , Herpesvirus Humano 4/isolamento & purificação , Tumor de Músculo Liso/virologia , Neoplasias Esplênicas/virologia , Actinas/análise , Adulto , Autopsia , Biomarcadores Tumorais/análise , Biópsia , Displasia Ectodérmica/genética , Displasia Ectodérmica/imunologia , Displasia Ectodérmica/cirurgia , Neoplasias Oculares/imunologia , Neoplasias Oculares/patologia , Neoplasias Oculares/terapia , Evolução Fatal , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/genética , Doenças Genéticas Ligadas ao Cromossomo X/imunologia , Doenças Genéticas Ligadas ao Cromossomo X/cirurgia , Transplante de Coração/efeitos adversos , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Herpesvirus Humano 4/genética , Herpesvirus Humano 4/imunologia , Humanos , Hospedeiro Imunocomprometido , Imuno-Histoquímica , Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/imunologia , Síndromes de Imunodeficiência/cirurgia , Imunossupressores/efeitos adversos , Hibridização In Situ , Lactente , Masculino , Doenças da Imunodeficiência Primária , RNA Viral/genética , Fatores de Risco , Tumor de Músculo Liso/imunologia , Tumor de Músculo Liso/patologia , Tumor de Músculo Liso/terapia , Neoplasias Esplênicas/imunologia , Neoplasias Esplênicas/patologia , Neoplasias Esplênicas/terapiaRESUMO
Two 1-year old Roulroul partridges (Rollulus rouloul), one male and one female, were presented because of eye problems and anorexia. Twenty of the 30 Roulroul partridges in the owner's collection had already died. The affected birds stopped eating, became thinner, and eventually died. Antibiotic treatment, which started because of the suspicion of a septicaemic process, was unsuccessful. At clinical examination of the two partridges it was found that in both birds, one eye ball was filled with a whitish yellow amorphous material and the other eye ball of the female showed a distinct corneal opacity. Both presented birds were euthanized. Necropsy revealed no significant abnormalities in addition to the eye lesions. Histology and immunohistochemistry of the female's eye revealed an infiltrate of T-lymphocytes corresponding to ocular lymphoma. Herpesvirus genus-specific PCR, followed by Sanger sequencing confirmed the presumptive diagnosis of Marek's disease in both birds. To our knowledge, this is the first confirmed case of infection with Gallid Herpesvirus 2 (Marek's disease virus) in partridges and the first case in this specific species.
Assuntos
Doenças das Aves/virologia , Neoplasias Oculares/veterinária , Herpesvirus Galináceo 2/isolamento & purificação , Linfoma/veterinária , Doença de Marek/virologia , Animais , Doenças das Aves/patologia , Neoplasias Oculares/patologia , Neoplasias Oculares/virologia , Feminino , Galliformes , Linfoma/patologia , Linfoma/virologia , Masculino , Doença de Marek/patologiaRESUMO
Hydroa vacciniforme-like lymphoma (HVL) is a rare cutaneous T-cell lymphoma that is usually seen in children of Hispanic or Asian origin. Association between chronic latent Epstein-Barr virus infection in both hydroa vacciniforme (HV) and HVL has been demonstrated and has recently been categorized by the World Health Organization as one of the Epstein Barr virus-positive lymphoproliferative disorders of childhood. Patients with HVL present with a cutaneous rash characterized by edema, blisters, ulcers, and scars mainly seen on the face and extremities that mimic HV; however, unlike in HV, the lesions tend to be extensive and deeper and are associated with severe scarring, necrosis, and systemic manifestations. We are reporting 7 cases of an unusual clinical variant of HVL with primarily periorbital edema. All of our patients in this series presented with progressive periorbital edema that was accompanied with systemic symptoms including fever, malaise, and lymphadenopathy. Most cases were initially misinterpreted as inflammatory processes including cellulitis, arthropod bite reactions, and periorbital lupus erythematosus. The biopsy of these lesions revealed an atypical lymphocytic infiltrate predominantly distributed in the deep dermis and in subcutaneous fat. Immunohistochemistry studies revealed a cytotoxic T-cell (CD8) profile. All cases were associated with Epstein-Barr virus infection. Our study presents a rare clinical variant of HVL with predominant periorbital edema. This variant could potentially be overlooked and misdiagnosed as an inflammatory condition; thus, it needs to be included in the differential diagnosis of periorbital edema in young patients.