Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.

OBJECTIVE: Human genomics established that pathogenic variation in diverse genes can underlie a single disorder. For example, hereditary spastic paraplegia is associated with >80 genes, with frequently only few affected individuals described for each gene. Herein, we characterize a large cohort of individuals with biallelic variation in ENTPD1, a gene previously linked to spastic paraplegia 64 (Mendelian Inheritance in Man # 615683). METHODS: Individuals with biallelic ENTPD1 variants were recruited worldwide. Deep phenotyping and molecular characterization were performed. RESULTS: A total of 27 individuals from 17 unrelated families were studied; additional phenotypic information was collected from published cases. Twelve novel pathogenic ENTPD1 variants are described (NM 001776.6): c.398_399delinsAA; p.(Gly133Glu), c.540del; p.(Thr181Leufs*18), c.640del; p.(Gly216Glufs*75), c.185 T > G; p.(Leu62*), c.1531 T > C; p.(*511Glnext*100), c.967C > T; p.(Gln323*), c.414-2_414-1del, and c.146 A > G; p.(Tyr49Cys) including 4 recurrent variants c.1109 T > A; p.(Leu370*), c.574-6_574-3del, c.770_771del; p.(Gly257Glufs*18), and c.1041del; p.(Ile348Phefs*19). Shared disease traits include childhood onset, progressive spastic paraplegia, intellectual disability (ID), dysarthria, and white matter abnormalities. In vitro assays demonstrate that ENTPD1 expression and function are impaired and that c.574-6_574-3del causes exon skipping. Global metabolomics demonstrate ENTPD1 deficiency leads to impaired nucleotide, lipid, and energy metabolism. INTERPRETATION: The ENTPD1 locus trait consists of childhood disease onset, ID, progressive spastic paraparesis, dysarthria, dysmorphisms, and white matter abnormalities, with some individuals showing neurocognitive regression. Investigation of an allelic series of ENTPD1 (1) expands previously described features of ENTPD1-related neurological disease, (2) highlights the importance of genotype-driven deep phenotyping, (3) documents the need for global collaborative efforts to characterize rare autosomal recessive disease traits, and (4) provides insights into disease trait neurobiology. ANN NEUROL 2022;92:304-321.

Consecutive Liver and Bone Marrow Transplantation for Erythropoietic Protoporphyria: Case Report and Literature Review.

BACKGROUND: Erythropoietic protoporphyria (EPP) is a rare inherited disease of heme biosynthesis resulting in the accumulation of protoporphyrin, characterized by liver failure in a minority of cases. Although liver transplant (LT) is the therapeutic strategy for advanced hepatic disease, it does not correct the primary defect, which leads to recurrence in liver graft. Thus, hematopoietic stem cell transplantation (HSCT) is an approach for treating EPP. METHODS: We aim to describe the first sequential LT and HSCT for EPP performed in Latin America, besides reviewing the present-day literature. RESULTS: The patient, a 13-year-old female with a history of photosensitivity, presented with symptoms of cholestatic and hepatopulmonary syndrome and was diagnosed with EPP. Liver biopsy demonstrated cirrhosis. She was submitted to a successful LT and showed improvement of respiratory symptoms. However, she had disease recurrence on the liver graft. She underwent a myeloablative HSCT using a matched unrelated donor, conditioning with BuCy (busulfan and cyclophosphamide), and GvHD (graft vs. host disease) prophylaxis with ATG (thymoglobulin), tacrolimus and methotrexate. Neutrophil engraftment occurred on D+18. She has presented mixed chimerism, but normalization of PP levels, being 300 days after HSCT, in good state of health and normal liver function. CONCLUSIONS: Consecutive LT and HSCT for EPP is a procedure that has been described in 10 cases in the literature and, even though these patients are a highly diversified population, studies have shown favorable results. This concept of treatment should be considered in patients with established liver disease.

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.

Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder caused by pathogenic variants in SUMF1. This gene encodes formylglycine-generating enzyme (FGE), a protein required for sulfatase activation. The clinical course of MSD results from additive effect of each sulfatase deficiency, including metachromatic leukodystrophy (MLD), several mucopolysaccharidoses (MPS II, IIIA, IIID, IIIE, IVA, VI), chondrodysplasia punctata, and X-linked ichthyosis. While it is known that affected individuals demonstrate a complex and severe phenotype, the genotype-phenotype relationship and detailed clinical course is unknown. We report on 35 cases enrolled in our retrospective natural history study, n = 32 with detailed histories. Neurologic function was longitudinally assessed with retrospective scales. Biochemical and computational modeling of novel SUMF1 variants was performed. Genotypes were classified based on predicted functional change, and each individual was assigned a genotype severity score. The median age at symptom onset was 0.25 years; median age at diagnosis was 2.7 years; and median age at death was 13 years. All individuals demonstrated developmental delay, and only a subset of individuals attained ambulation and verbal communication. All subjects experienced an accumulating systemic symptom burden. Earlier age at symptom onset and severe variant pathogenicity correlated with poor neurologic outcomes. Using retrospective deep phenotyping and detailed variant analysis, we defined the natural history of MSD. We found that attenuated cases can be distinguished from severe cases by age of onset, attainment of ambulation, and genotype. Results from this study can help inform prognosis and facilitate future study design.

Retrievable celect™ filter placement in the superior vena cava: A case report.

INTRODUCTION: Venous thromboembolism is an important cause of morbidity and mortality in the world. Upper Extremity Deep Venous Thrombosis (UEDVT) may be a cause of pulmonary embolism. Anticoagulation is the treatment of choice for venous thromboembolism, which is associated with low hemorrhagic complications. However, there are situations that anticoagulation becomes contraindicated as gastrointestinal tract hemorrhages, stroke, progression of deep venous thrombosis in the presence of adequate anticoagulation, where the vena cava filter is recommended. CASE REPORT: Patient 65 years old, female undergoing neurosurgical treatment of a mass suggestive of schwannoma with asymmetrical edema in the right upper limb, confirming the acute deep venous thrombosis by Doppler ultrassonogarphy. Anticoagulation was contraindicated by neurosurgery and after a multidisciplinary discussion, the superior vena cava filter was chosen. DISCUSSION: The Retrievable Celect™ Filter was implant in superior vena cava and may be considered as an alternative therapeutic method in cases where anticoagulation can not be performed. CONCLUSION: Superior vena cava filter is controversial, but is safe, feasible and effective, in preventing symptomatic pulmonary embolisms in patients in whom anticoagulation is contraindicated.

Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center.

OBJECTIVES: To characterize cases of suspected congenital disorders of glycosylation (CDG) investigated in a laboratory in southern Brazil using the transferrin isoelectric focusing TfIEF test from 2008 to 2017. METHOD: Observational, cross-sectional, retrospective study. The laboratory records of 1,546 individuals (median age=36 months, 25-75 IQR=10-108; males=810) submitted to the TfIEF test during the period were reviewed. RESULTS: Fifty-one individuals (3%) had an altered TfIEF pattern (5±2.8 cases/year; median age=24 months, 25-75 IQR=11-57 months; males=27, 53%). For 14 of them, data on diagnosis conclusion were available (classic galactosemia=4; hereditary fructose intolerance=4; peroxisomal diseases=2; PMM2-CDG=2; MPDU1-CDG=1; SLC35A2-CDG=1).Comparing the cases with the normal and altered TfIEF patterns, there was a higher prevalence of altered cases in the age group from 11 months to 3 years. There was an increase in the likelihood of change in TfIEF, especially in the presence of inverted nipples or liver disease. CONCLUSIONS: The data suggest that the investigation of a case with suspected CDG is a complex problem, being aggravated by the existence of other IEMs (inborn errors of metabolism) associated with altered TfIEF pattern and lack of access to confirmatory tests. The presence of inverted nipples and liver disease, especially in individuals aged 11 months to 3 years, should suggest the need for TfIEF investigation.

Clinical-epidemiological characterization of patients submitted to hemodialysis according to the national kidney foundation, the kidney disease outcomes quality initiative ­ KDOQI in a hemodialysis reference center in the metropolitan region of São Paulo, Brazil

Introduction: hemodialysis is a treatment that helps in the survival of patients with renal failure, through an established cardiopulmonary bypass to carry out blood filtration, as a result, there is a need for a feasible, lasting and effective vascular access. There are two types of vascular access, arteriovenous fistulas, using autogenous veins or prostheses, and venous catheters. The indications for choosing the type of vascular access are related to the characteristics and restriction of use of each patient.Objective: to analyze the epidemiological, demographic and clinical profile of patients undergoing hemodialysis in two reference services in the metropolitan region of São Paulo, Brazil, and compare the clinical-surgical processes with those defined by the Kidney Guidelines disease Outcomes Quality Initiative (KDOQI).Methods: data were collected in two public hospitals, with patients undergoing hemodialysis, through registration forms and medical records, from August to December 2016. The volunteers were informed about the procedures and objectives of the study and, after agreeing, they signed a consent form. The variables age, gender, weight, height, body mass index, hemodialysis time, types of accesses already used , complications related to the accesses and underlying disease were analyzed. Patients with chronic renal failure undergoing hemodialysis of both genders, with no age restriction, were included. Patients not able to perform one of the techniques, arteriovenous fistula or catheter, were excluded . The collected data were compared with the Kidney guidelines disease Outcomes Quality Initiative (KDOQI).Results: a total of 252 individuals were included, of which 182 are patients undergoing reference hospital treatment in the city of São Bernardo do Campo, SP and 70 patients at the State University Hospital Mário Covas, a State reference in the clinical management of patients undergoing hemodialysis care.Conclusion: chronic kidney disease is highly prevalent with progression to end-stage chronic kidney failure (dialysis). The definition of the epidemiological profile of the population undergoing treatment, as well as the journey of venous accesses for hemodialysis (catheters and fistulas), are fundamental for the multidisciplinary team's learning curve about complications throughout the course of the disease/treatment. Furthermore, the clinical-surgical management of this population is in line with the guidelines of the National Kidney Foundation. The treatment performed in these hemodialysis centers is efficient and in line with what the KDOQI recommends.

Características dos adolescentes ofensores sexuais e de suas vítimas: um estudo de processos judiciais / Characteristics of adolescent sexual offenders and their victims: a study of judicial processes

Resumo A violência sexual praticada por adolescentes ainda é pouco estudada no Brasil. Conhecer esses sujeitos é fundamental para a compreensão do fenômeno e execução de ações preventivas. Este artigo apresenta características dos adolescentes ofensores sexuais, bem como de suas vítimas e do contexto da violência. Para isso, foram analisados 254 processos judiciais, entre 2013 e 2016, no Distrito Federal, envolvendo 285 ofensores e 291 vítimas. A partir das informações coletadas, elaborou-se um quadro descritivo, cuja análise foi realizada de forma contextualizada e tendo como referência outros importantes estudos na área. Os resultados apontaram a diversidade dos adolescentes ofensores sexuais, porém as informações sobre as famílias foram bastante escassas nos processos. Quanto à idade e à escolaridade, a maior parte cometeu a ofensa com 16/17 anos (41,4%) e cursava o ensino fundamental II (29,5%). Um número significativo de adolescentes tinha envolvimento anterior com a justiça (24,2%). Os abusos foram prioritariamente extrafamiliares (48,5%), com vítimas do sexo feminino (67,7%), entre 10 e 14 anos (40,5%) e conhecidas do ofensor (92,2%). Ressalta-se a complexidade dos casos, impossibilitando intervenções padronizadas e descontextualizadas, assim como a importância de conhecer o contexto social e as relações familiares desses sujeitos com vistas a intervenções mais assertivas.

Abstract Sexual violence practiced by adolescents is poorly studied in Brazil. It is essential to know these subjects to understand the phenomenon and to develop preventive actions. This article presents characteristics of adolescent sexual offenders, as well as their victims and the context of the offense. To this, 254 lawsuits were analyzed, between 2013 and 2016, in Federal District, involving 285 offenders and 291 victims. From the information collected, a descriptive table was elaborated, whose analysis was carried out in a contextualized manner and with reference to other important studies in the area. The results pointed to the diversity of adolescent sexual offenders, but information about families were scarce in the lawsuits. Most of them committed the offense with 16/17 years old (41.4%) and were in Middle School equivalent - 6th to 8th grade (29.5%). A significant number of adolescents had previous involvement with the courts (24.2%). The abuses were primarily extrafamilial (48.5%), with female victims (67.7%), between 10 and 14 years old (40.5%) and known to the offender (92.2%). The complexity of the cases is highlighted, making standardized interventions impossible, as well as the importance of knowing the social context of adolescents and their family relationships to more assertive interventions.

Características dos adolescentes ofensores sexuais e de suas vítimas: um estudo de processos judiciais / Characteristics of adolescent sexual offenders and their victims: a study of judicial processes

Resumo A violência sexual praticada por adolescentes ainda é pouco estudada no Brasil. Conhecer esses sujeitos é fundamental para a compreensão do fenômeno e execução de ações preventivas. Este artigo apresenta características dos adolescentes ofensores sexuais, bem como de suas vítimas e do contexto da violência. Para isso, foram analisados 254 processos judiciais, entre 2013 e 2016, no Distrito Federal, envolvendo 285 ofensores e 291 vítimas. A partir das informações coletadas, elaborou-se um quadro descritivo, cuja análise foi realizada de forma contextualizada e tendo como referência outros importantes estudos na área. Os resultados apontaram a diversidade dos adolescentes ofensores sexuais, porém as informações sobre as famílias foram bastante escassas nos processos. Quanto à idade e à escolaridade, a maior parte cometeu a ofensa com 16/17 anos (41,4%) e cursava o ensino fundamental II (29,5%). Um número significativo de adolescentes tinha envolvimento anterior com a justiça (24,2%). Os abusos foram prioritariamente extrafamiliares (48,5%), com vítimas do sexo feminino (67,7%), entre 10 e 14 anos (40,5%) e conhecidas do ofensor (92,2%). Ressalta-se a complexidade dos casos, impossibilitando intervenções padronizadas e descontextualizadas, assim como a importância de conhecer o contexto social e as relações familiares desses sujeitos com vistas a intervenções mais assertivas.

Abstract Sexual violence practiced by adolescents is poorly studied in Brazil. It is essential to know these subjects to understand the phenomenon and to develop preventive actions. This article presents characteristics of adolescent sexual offenders, as well as their victims and the context of the offense. To this, 254 lawsuits were analyzed, between 2013 and 2016, in Federal District, involving 285 offenders and 291 victims. From the information collected, a descriptive table was elaborated, whose analysis was carried out in a contextualized manner and with reference to other important studies in the area. The results pointed to the diversity of adolescent sexual offenders, but information about families were scarce in the lawsuits. Most of them committed the offense with 16/17 years old (41.4%) and were in Middle School equivalent - 6th to 8th grade (29.5%). A significant number of adolescents had previous involvement with the courts (24.2%). The abuses were primarily extrafamilial (48.5%), with female victims (67.7%), between 10 and 14 years old (40.5%) and known to the offender (92.2%). The complexity of the cases is highlighted, making standardized interventions impossible, as well as the importance of knowing the social context of adolescents and their family relationships to more assertive interventions.

Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center / Isoeletrofocalização da transferrina para investigação das doenças congênitasda glicosilação: análise de dez anos de experiência de um centro brasileiro

Abstract Objectives: To characterize cases of suspected congenital disorders of glycosylation (CDG) investigated in a laboratory in southern Brazil using the transferrin isoelectric focusing TfIEF test from 2008 to 2017. Method: Observational, cross-sectional, retrospective study. The laboratory records of 1,546 individuals (median age = 36 months, 25-75 IQR = 10-108; males = 810) submitted to the TfIEF test during the period were reviewed. Results: Fifty-one individuals (3%) had an altered TfIEF pattern (5 ± 2.8 cases/year; median age = 24 months, 25-75 IQR = 11-57 months; males = 27, 53%). For 14 of them, data on diagnosis conclusion were available (classic galactosemia = 4; hereditary fructose intolerance = 4; peroxisomal diseases = 2; PMM2-CDG = 2; MPDU1-CDG = 1; SLC35A2-CDG = 1).Comparing the cases with the normal and altered TfIEF patterns, there was a higher prevalence of altered cases in the age group from 11 months to 3 years. There was an increase in the likelihood of change in TfIEF, especially in the presence of inverted nipples or liver disease. Conclusions: The data suggest that the investigation of a case with suspected CDG is a complex problem, being aggravated by the existence of other IEMs (inborn errors of metabolism) associated with altered TfIEF pattern and lack of access to confirmatory tests. The presence of inverted nipples and liver disease, especially in individuals aged 11 months to 3 years, should suggest the need for TfIEF investigation.

Resumo Objetivos: Caracterizar os casos com suspeita de CDG investigados em laboratório do sul do Brasil pelo exame de IEFTF de 2008 a 2017. Metodologia: Estudo observacional, transversal, retrospectivo. Foram revisadas as fichas laboratoriais de 1.546 indivíduos (mediana de idade = 36 meses, IQ 25-75 = 10-108; sexo masculino = 810) que fizeram o exame de IEFTF no período. Resultados: Cinquenta e um indivíduos (3%) apresentaram padrão alterado na IEFTF (5 ± 2,8 casos/ano; mediana de idade = 24 meses, IQ 25-75 = 11-57 meses; sexo masculino = 27, 53%). Para 14 deles, estavam disponíveis dados sobre a conclusão do diagnóstico (galactosemia clássica = 4; intolerância hereditária à frutose = 4; doenças peroxissomais = 2; PMM2-CDG = 2; MPDU1-CDG = 1; SLC35A2-CDG = 1). Comparando os casos com padrão normal e alterado na IEFTF, houve maior prevalência de casos alterados na faixa etária de 11 meses a 3 anos. Verificou-se um aumento na probabilidade de alteração na IEFTF principalmente na presença de mamilos invertidos ou de hepatopatia. Conclusões: Os nossos dados sugerem que a investigação de um caso com suspeita de CDG é complexa, é agravada pela existência de outros EIM associados a padrão alterado na IEFTF e pela falta de acesso a exames confirmatórios. A presença principalmente de mamilos invertidos e de hepatopatia em indivíduos na faixa etária de 11 meses a 3 anos deve sugerir a necessidade de investigação por IEFTF.

Displasia fibrosa recidivante de antro maxilar com invasão de base do crânio / Recurring fibrous dysplasia of anthro maxillary with cranial base invasion

Introdução: A displasia fibrosa é uma lesão óssea com etiologia ainda desconhecida. Caracteriza-se pela incapacidade de maturação óssea. Pode acometer qualquer osso, mas é o acometimento dos ossos craniofaciais o de maior interesse na otorrinolaringologia. A maxila é o osso facial mais afetado, sendo a invasão orbitária um evento incomum. Os sintomas são inespecíficos e, pela baixa suspeição e raridade, o diagnóstico é geralmente tardio. A forma monostótica apresenta crescimento lento e curso assintomático, necessitando apenas de acompanhamento. O tipo poliostótico possui um comportamento progressivo e associa-se a recorrência e complicações. Objetivo: Apresentar dois casos de pacientes com diagnóstico de displasia fibrosa, discutindo a apresentação clínica, os achados radiológicos e o tratamento desta patologia. Relato do Caso: São relatados dois casos de displasia fibrosa que inicialmente apresentaram sintomatologia inespecífica, mas com sinais radiológicos característicos. Foram submetidos a tratamento cirúrgico para ressecção das lesões e evoluíram com recidivas frequentes com acometimento extenso de seios da face, sendo que em um paciente ocorreu invasão de base do crânio havendo necessidade de craniotomia frontal para excisão tumoral. Conclusão: A displasia fibrosa é uma osteopatia incomum. A tomografia é o método de eleição na caracterização da expansão tumoral, auxiliando no planejamento cirúrgico. A estratégica cirúrgica está indicada em lesões sintomáticas, alterações funcionais ou distorções anatômicas. O presente artigo descreve duas raras apresentações de displasia fibrosa recidivante com extenso acometimento de antro maxilar, seios etmoidais e esfenoidais, além de invasão orbitária e base do crânio.

Introduction: Fibrous dysplasia is an osseous lesion with an unknown etiology. It is characterized by the osseous maturation insufficiency. It may affect any bone, but the affection of craniofacial bones is the most critical for otorhinolaryngology. Maxilla is the most affected facial bone and the orbitary invasion is an uncommon event. The symptoms are unspecific and for its low suspicion and uncommonness, the diagnosis is generally late. The monostotic form presents a slow growth and asymptomatic course and needs to be followed up. The polyostotic type has a progressive behavior and is associated to recurrence and complications. Objective: To present two cases of patients with fibrous dysplasia diagnosis and describe the clinical presentation, radiological findings and the treatment of this pathology. Cases Report: Two cases of fibrous dysplasia are reported, which initially presented unspecific symptomatology, but with characteristic radiologic signs. They were submitted to surgical treatment for resection of the lesions and evolved with frequent recurrences with extensive affection of the facial sinuses, one patient had cranial base invasion and frontal craniotomy was needed for tumoral excision. Final Comments: Fibrous dysplasia is an uncommon osteopathy. The tomography is the choice method for characterization of the tumoral expansion, and helps in the surgical planning. The surgical strategy is indicated for symptomatic lesions, functions alterations or anatomic disorders. This article describes two uncommon manifestations of recurrent fibrous dysplasia with an extensive affection of anthro maxillary, ethmoidal and sphenoid sinuses, in addition to orbitary and cranial base invasion.

Prevalence of prognostic factors for cancer of the uterine cervix after radical hysterectomy / Prevalência de fatores prognósticos em câncer de colo uterino após histerectomia radical

CONTEXT AND OBJECTIVE: Cancer of the uterine cervix is still very common in Brazil. It is important to evaluate factors that influence its prognosis. The aim here was to analyze the prevalence of prognostic anatomoclinical factors among patients with carcinoma of the uterine cervix undergoing radical hysterectomy. DESIGN AND SETTING: Cross-sectional study on 301 patients with invasive carcinoma of the uterine cervix who underwent Level III Piver-Rutledge hysterectomy surgery at São Marcos Hospital. METHODS: The following variables were analyzed: age, histological type, degree of differentiation, invasion of lymphatic, vascular and perineural space, lymph node metastasis, distance to nearest margin, tumor invasion depth, vaginal cuff size, largest diameter of the tumor, presence of necrosis and surgical margin involvement. Descriptive statistics, multiple regression analysis, Kaplan-Meier survival curves and the log-rank test were performed. A significance level of 5 percent was used. RESULTS: The mean age was 48.27 years. The following were not important for the prognosis, in relation to survival analysis: degree of differentiation and tumor invasion depth; presence of lymphatic, blood and perineural invasions; distance to nearest margin; and vaginal cuff size. Tumor size (P < 0.036), presence of lymph node metastasis (P < 0.0004), necrosis (P < 0.05) and surgical margin involvement (P < 0.0015) presented impacts on survival. The overall survival with 98 months of follow-up was 88.35 percent. CONCLUSION: The most prevalent prognostic factors were the presence of lymph node metastasis, tumor size and surgical margin involvement.

CONTEXTO E OBJETIVO: O câncer do colo do útero é ainda muito frequente no Brasil, sendo importante avaliar os fatores que influenciam no seu prognóstico. O objetivo é analisar a prevalência dos fatores prognósticos anatomoclínicos em pacientes com carcinoma do colo uterino submetidas a histerectomia radical. TIPO DE ESTUDO E LOCAL: Estudo retrospectivo de 301 pacientes com carcinoma invasivo de colo uterino submetidas a histerectomia radical nível III de Piver-Rutledge no Hospital São Marcos. MÉTODOS: Analisaram-se as variáveis: idade, tipo histológico, grau de diferenciação, invasão do espaço linfático, vascular e perineural, metástase linfonodal, distância da margem mais próxima, profundidade de invasão do tumor, tamanho do manguito vaginal, maior diâmetro do tumor, presença de necrose, comprometimento de margens cirúrgicas. Realizou-se estatística descritiva, análise de regressão múltipla, curva de sobrevida pelo método de Kaplan-Meier e teste log rank. Adotou-se índice de significância de 5 por cento. RESULTADOS: A idade média foi de 48,27 anos. A análise da sobrevida em relação ao grau de diferenciação e profundidade de invasão do tumor, à presença de invasões linfática, sanguínea e perineural, à distância da margem mais próxima e ao tamanho do manguito vaginal não foram importantes no prognóstico. O tamanho do tumor (P < 0,036), presença de metástase linfonodal (P < 0,0004), necrose (P < 0,05) e comprometimento de margens cirúrgicas (P < 0,0015) apresentaram impacto na sobrevida. A sobrevida global com um acompanhamento de 98 meses foi de 88,35 por cento. CONCLUSÃO: Os fatores prognósticos mais prevalentes foram a presença de metástase linfonodal, o tamanho do tumor, a presença de necrose e o comprometimento das margens cirúrgicas.