Comparative Analysis Between Dentinogenic Ghost Cell Tumor and Ghost Cell Odontogenic Carcinoma: A Systematic Review.

Dentinogenic ghost cell tumor (DGCT) and ghost cell odontogenic carcinoma (GCOC) form a spectrum of rare benign and malignant odontogenic neoplasms, respectively. The aim of this study was to perform a comparative systematic review of the clinicopathological, genetic, therapeutic, and prognostic features of DGCT and GCOC. The electronic search was performed until December 2020 on seven electronic databases. Case reports, series, and research studies with enough histopathological criteria for diagnosis and all genomic studies were included. Both DGCT and GCOC showed a male prevalence (p = 0.043), with mandibular and maxillary predilections, respectively (p = 0.008). Peripheral DGCT (DGCTp) affected most elderly people (p < 0.001), and central DGCT (DGCTc) and GCOC occurred mainly in younger individuals. Unilateral enlargement of maxilla or mandible was the most common clinical sign associated with a radiolucent or mixed image. Ameloblastomatous epithelium was often present in both neoplasms. Basaloid and large cells with vesicular nuclei were also frequently seen in GCOC. ß-catenin expression and mutations (CTNNB1 gene) were found in DGCT and GCOC. Conservative surgery was mostly used for DGCTp, while radical resection was chosen for DGCTc and GCOC. High recurrence rates were found in DGCTc and GCOC. Metastasis occurred in 16.7% of GCOC cases and the 5-year survival rate was 72.6%. DGCT and GCOC share numerous clinicopathological features and demand a careful histopathological evaluation, considering the overlap features with other odontogenic tumors and the possibility of malignant transformation of DGCT. A strict regular post-operative follow-up is mandatory due to high recurrence rates and metastatic capacity in GCOC.

Computerized Evaluation of the Immunoexpression of Ki-67 Protein in Odontogenic Keratocyst and Dentigerous Cyst.

Evaluation and comparison of odontogenic keratocysts and detigerous cysts immunoexpression and immunostaining intensities of Ki-67 antigen by assessing the whole extent of the epithelium (all epithelium layers in combination) and each layer individually. Ki-67 immunoexpression was evaluated in 15 odontogenic keratocysts and 6 dentigerous cysts using automated methods and the Aperio Technologies Inc. computer system. No statistically significant differences were observed in immunoexpression nor in immunostaining intensities between both lesions. Also, no statistically significant differences were found between odontogenic keratocysts from maxilla versus mandible nor primary versus recurrent. However, odontogenic keratocyst showed a significantly higher cellular proliferation index in the suprabasal layers compared to the basal layer. Assessment of the cellular proliferation index through a computerized system enabled the evaluation of all epithelial tissue without field selection. The increased Ki-67 immunoexpression in suprabasal layers of odontogenic keratocyst suggests a different biological behavior and more aggressive proliferation potential when compared to dentigerous cyst. The same result was found in recurrent odontogenic keratocysts when compared with primary ones. The odontogenic keratocysts of the maxilla and mandible have similar Ki-67 immunoexpression. The evaluation of cellular proliferation only by immunohistochemical analysis with Ki-67 antigen does not provide enough data to elucidate the biological behavior of odontogenic keratocyst.

Identification of growth hormone receptor in plexiform neurofibromas of patients with neurofibromatosis type 1.

OBJECTIVE: The aim of this study was to investigate the presence of growth hormone receptor in plexiform neurofibromas of neurofibromatosis type 1 patients. INTRODUCTION: The development of multiple neurofibromas is one of the major features of neurofibromatosis type 1. Since neurofibromas commonly grow during periods of hormonal change, especially during puberty and pregnancy, it has been suggested that hormones may influence neurofibromatosis type 1 neurofibromas. A recent study showed that the majority of localized neurofibromas from neurofibromatosis type 1 patients have growth hormone receptor. METHODS: Growth hormone receptor expression was investigated in 5 plexiform neurofibromas using immunohistochemistry. RESULTS: Four of the 5 plexiform neurofibromas were immunopositive for growth hormone receptor. CONCLUSION: This study suggests that growth hormone may influence the development of plexiform neurofibromas in patients with neurofibromatosis type 1.

Cytopathological diagnosis of herpes simplex virus infection causing oral aphthous ulcers in a patient with acute lymphocytic leukemia: case report / Diagnóstico citopatológico de infecção pelo vírus herpes simples causando úlceras aftosas orais em paciente com leucemia linfocítica aguda: relato de caso

Aim:This paper aims to report an atypical oral HSV infection diagnosed by cytopathological examination in a patient with acute lymphocytic leukemia. Case report: A nine-year-old white female was admitted with acute lymphocytic leukemia, presenting ulcers covered with pseudomembrane and spontaneous bleeding on the left soft palate, measuring approximately 2 cm, as well as other ulcers measuring 1 cm on the left lateral border of the tongue. Exfoliative cytopathology revealed neutrophils and cytopathic effects of HSV in the keratinocytes in a fibrin background. Based on the exfoliative examination, the diagnosis of HSV infection was obtained. Conclusion: Oral HSV infection can be atypical in immunocompromised patients and can cause high morbidity and mortality. Healthcare professionals, especially those working in a hospital environment, should be aware of the possibility of HSV infection in atypical lesions in these patients and evaluate the need to include antiviral prophylactic therapy.

Objetivo:Este trabalho tem como objetivo relatar uma infecção oral atípica por HSV diagnosticada por exame citopatológico em um paciente com leucemia linfocítica aguda. Relato de caso:Paciente do sexo feminino, nove anos, branca, portadora de leucemia linfocítica aguda, apresentando úlceras recobertas por pseudomembrana e sangramento espontâneo em palato mole esquerdo medindo aproximadamente 2 cm, além de outras úlceras medindo 1 cm na borda lateral esquerda da língua. A citopatologia esfoliativa revelou neutrófilos e efeitos citopáticos do HSV nos ceratinócitos em um fundo de fibrina. Com base no exame esfoliativo, foi obtido o diagnóstico de infecção por HSV. Conclusão: A infecção oral por HSV pode ser atípica em pacientes imunocomprometidos e pode causar alta morbidade e mortalidade. Os profissionais de saúde, principalmente os que atuam em ambiente hospitalar, devem estar atentos à possibilidade de infecção pelo HSV em lesões atípicas nesses pacientes e avaliar a necessidade de inclusão de terapia antiviral profilática.

Bisphosphonate-related osteonecrosis of the jaws: Report of a case using conservative protocol.

Bisphosphonates have been the first-line treatment option for osteometabolic diseases, such as osteoporosis, hypercalcaemia in malignant bone diseases, and in bone metastasis. It is possible to observe a growing number of cases of osteonecrosis of the jaws in patients using this medication, called bisphosphonate-related osteonecrosis of the jaws. The purpose of this study was to report a conservative treatment for bisphosphonate-related osteonecrosis of the jaws--Stage 2, using antibacterial solution and low-level laser therapy. At the end of the treatment, the patient presented improvement of the lesion with the healing of the mucosa. The literature still lacks successful definite protocols, thus the present case may contribute with another option for conservative management for bisphosphonate-related osteonecrosis of the jaws. More research is necessary in order to develop a good protocol management for bisphosphonate-related osteonecrosis of the jaws.

Neurofibromatosis: part 2--clinical management.

Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors and cutaneous manifestations, and affects nearly 80 thousand Brazilians. Increasing scientific knowledge on NF has allowed better clinical management and reduced rate of complications and morbidity, resulting in higher quality of life for NF patients. Most medical doctors are able to perform NF diagnosis, but the wide range of clinical manifestations and the inability to predict the onset or severity of new features, consequences, or complications make NF management a real clinical challenge, requiring the support of different specialists for proper treatment and genetic counseling, especially in NF2 and SCH. The present text suggests guidelines for the clinical management of NF, with emphasis on NF1.

Neurofibromatoses: part 1 - diagnosis and differential diagnosis.

Neurofibromatoses (NF) are a group of genetic multiple tumor growing predisposition diseases: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH), which have in common the neural origin of tumors and cutaneous signs. They affect nearly 80 thousand of Brazilians. In recent years, the increased scientific knowledge on NF has allowed better clinical management and reduced complication morbidity, resulting in higher quality of life for NF patients. In most cases, neurology, psychiatry, dermatology, clinical geneticists, oncology and internal medicine specialists are able to make the differential diagnosis between NF and other diseases and to identify major NF complications. Nevertheless, due to its great variability in phenotype expression, progressive course, multiple organs involvement and unpredictable natural evolution, NF often requires the support of neurofibromatoses specialists for proper treatment and genetic counseling. This Part 1 offers step-by-step guidelines for NF differential diagnosis. Part 2 will present the NF clinical management.

Concordance between cytopathology and incisional biopsy in the diagnosis of oral squamous cell carcinoma.

Oral cytopathology is a simple, non-invasive technique that could be used for early detection of oral premalignant and malignant lesions, but the effectiveness of this diagnostic approach remains controversial. The aim of this study was to evaluate the sensitivity, specificity, positive and negative predictive values, and accuracy of cytopathology for diagnosing oral squamous cell carcinoma (OSCC) and the diagnostic concordance between cytopathological and histopathological diagnoses. The study enrolled 172 patients at outpatient clinics who presented with oral lesions suspicious of malignancy. All patients underwent oral cytological scrapes followed by an incisional biopsy. Of 148 cases that were histopathologically diagnosed with OSCC, the cytopathological method diagnosed 123 positive cases and resulted in a suspicion of OSCC in 16 patients. Based on these data, the sensitivity was 83.1%, the specificity was 100.0%, the positive predictive value was 100.0%, the negative predictive value was 49.0%, and the accuracy was 85.5%. The diagnostic concordance between histopathological and cytopathological examinations was 83.1% for OSCC and 85.7% for non-neoplastic lesions. The results indicate that cytopathological diagnosis had good concordance with histopathological diagnosis and showed high sensitivity, specificity, positive predictive value, and accuracy. We conclude that the sensitivity of oral cytopathology is sufficient to justify its use as a diagnostic screening test and to confirm the malignant nature of epithelial cells, mainly for the classification of OSCC. Therefore, cytopathology may be a reliable method for referring patients who require diagnosis of suspected oral cancer for starting treatment.

Tamoxifen decreases the myofibroblast count in the healing bile duct tissue of pigs.

OBJECTIVE: The aim of this study was to evaluate the effect of oral tamoxifen treatment on the number of myofibroblasts present during the healing process after experimental bile duct injury. METHODS: The sample consisted of 16 pigs that were divided into two groups (the control and study groups). Incisions and suturing of the bile ducts were performed in the two groups. Tamoxifen (20 mg/day) was administered only to the study group. The animals were sacrificed after 30 days. Quantification of myofibroblasts in the biliary ducts was made through immunohistochemistry analysis using anti-alpha smooth muscle actin of the smooth muscle antibody. Immunohistochemical quantification was performed using a digital image system. RESULTS: In the animals treated with tamoxifen (20 mg/day), there was a significant reduction in immunostaining for alpha smooth muscle actin compared with the control group (0.1155 vs. 0.2021, p = 0.046). CONCLUSION: Tamoxifen reduced the expression of alpha smooth muscle actin in the healing tissue after bile duct injury, suggesting a decrease in myofibroblasts in the scarred area of the pig biliary tract. These data suggest that tamoxifen could be used in the prevention of biliary tract stenosis after bile duct surgeries.

Condutas atuais na prevenção da hipertrofia cicatricial pós-operatória / Current management for the prevention of postoperative scar hypertrophy

Introdução: Considerando um número estimado de cerca de 51 milhões de cirurgias a cada ano apenas nos EUA, podemos dizer que a hipertrofia cicatricial é um problema relevante, já que uma cicatriz fina, de boa qualidade, pode ser a linha divisória entre um bom resultado e uma cirurgia malsucedida. O objetivo é fazer uma revisão bibliográfica acerca dos métodos de tratamento não invasivos atualmente disponíveis para a prevenção da hipertrofia cicatricial pós-cirúrgica e discutir a sua eficácia baseada em evidências. Método: Foi realizada uma pesquisa nas bases de dados Pubmed, Lilacs e SciELO, utilizando os termos "scar prevention" and "hypertrophic scars", por ensaios clínicos, meta-análises e artigos de revisão publicados a partir de 2004, em inglês ou português. Resultados e Conclusões: Foram encontrados vários trabalhos utilizando o silicone, proporcionando alguma evidência acerca da sua eficácia; foram encontrados apenas três ensaios clínicos prospectivos relacionados ao uso do Contractubex®; dois ensaios clínicos prospectivos, controlados, randomizados, sendo apenas um deles duplo-cego, com o imiquimode a 5%; foi encontrado apenas um ensaio clínico bem desenhado utilizando o esparadrapo microporoso e outro trabalho relacionado ao uso da vitamina E, que não mostrou bons resultados; não foram encontrados ensaios clínicos sobre o uso da massagem e da pressão local. Apesar das deficiências dos estudos, o silicone é considerado a primeira opção na prevenção da hipertrofia cicatricial pós-cirúrgica. Não há evidências que comprovem a eficácia do esparadrapo microporoso, da massagem, da pressão local, do Contractubex, do imiquimode a 5% e da vitamina E.

Introduction: Considering that nearly 51 million surgeries are performed annually just in the USA, we can state that scar hypertrophy is a relevant problem, since a thin, good quality scar can be the dividing line between a good outcome and an unsuccessful surgery. The objective is to perform a bibliographic review of the noninvasive methods currently available to prevent postoperative hypertrophic scars and discuss their evidence-based effectiveness. Method: A search was performed in PubMed, LILACS, and SciELO databases, using the terms "scar prevention" and "hypertrophic scars," for clinical trials, meta-analyses, and review articles published since 2004 in English or Portuguese language. Results and Conclusions: Several studies using silicone were found, providing some evidence on its effectiveness; only 3 prospective clinical trials using Contractubex® were found; 2 controlled, randomized prospective clinical trials using 5% imiquimod were found, but only one was doubleblind; one well-designed clinical trial using a micropore adhesive tape was found; a similar clinical trial using vitamin E did not show good results. Clinical trials on the use of massage and local pressure were not found. Despite the limitations of the studies, silicone is considered the first treatment option for the prevention of postoperative hypertrophic scars. There is no evidence proving the effectiveness of micropore adhesive tape, massage, local pressure, Contractubex, 5% imiquimod, or vitamin E.

Diagnosis of secondary syphilis through oral lesionsin two patients with negative serology: case reports / Diagnóstico de sífilis secundária através daslesões orais em dois pacientes com sorologia negativa: relatos de caso

Syphilis is a sexually transmitted infection, and oral lesion can be the first manifestation. The serology test, such as Venereal Disease Research Laboratory test, is accepted as an effective testing strategy for detecting syphilis, although false-negative reaction can occur, and oral lesions may be pivotal to achievethe diagnosis. We report two cases of seronegative secondary syphilis, a human immunodeficiency virus positive patient and a no HIV positive patient,whose histopathological exams were pivotal to achieve the diagnosis of syphilis. The serology may be negative in secondary syphilis and the oral lesionsmay represent the unique method to diagnostic

A sífilis é uma doença sexualmente transmissível, e a lesão oral pode representar sua primeira manifestação. Testes sorológicos, como Venereal Disease Research Laboratory, são rotineiramente utilizados para detecção de sífilis, entretanto, em alguns casos, podem ocorrer resultados falso-negativos. Nesses casos, as lesões orais são essenciais para o diagnóstico. Relatamos dois casos de sífilis secundária com sorologia negativa, em um paciente HIV positivo e um paciente HIV negativo, que obtiveram o diagnóstico de sífilis a partir do exame histopatológico das lesões orais. Os testes sorológicos podem ser negativos na sífilis secundária, e as lesões orais podem representar o único método diagnóstico.

Neurofibromatosis: part 2 – clinical management / Neurofibromatoses: parte 2 – manejo clínico

Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors and cutaneous manifestations, and affects nearly 80 thousand Brazilians. Increasing scientific knowledge on NF has allowed better clinical management and reduced rate of complications and morbidity, resulting in higher quality of life for NF patients. Most medical doctors are able to perform NF diagnosis, but the wide range of clinical manifestations and the inability to predict the onset or severity of new features, consequences, or complications make NF management a real clinical challenge, requiring the support of different specialists for proper treatment and genetic counseling, especially in NF2 and SCH. The present text suggests guidelines for the clinical management of NF, with emphasis on NF1.

A primeira parte desta diretriz abordou o diagnóstico diferencial das neurofibromatoses (NF): neurofibromatose do tipo 1 (NF1), neurofibromatose do tipo 2 (NF2) e schwannomatose (SCH). As NF compartilham algumas características, como a origem neural dos tumores e sinais cutâneos, e afetam cerca de 80 mil brasileiros. O aumento do conhecimento científico sobre as NF tem permitido melhor manejo clínico e redução da morbidade das complicações, resultando em melhor qualidade de vida para os pacientes com NF. A maioria dos médicos é capaz de realizar o diagnóstico das NF, mas a variedade de manifestações clínicas e a dificuldade de se prever o surgimento e a gravidade de complicações, torna o manejo da NF um desafio para o clínico e envolve diferentes especialistas para o tratamento adequado e aconselhamento genético, especialmente a NF2 e a SCH. O presente texto sugere algumas orientações para o acompanhamento dos portadores de NF, com ênfase na NF1.

Neurofibromatoses: part 1 diagnosis and differential diagnosis / Das neurofibromatoses: parte 1 diagnostico e diagnostico diferencial

Neurofibromatoses (NF) are a group of genetic multiple tumor growing predisposition diseases: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH), which have in common the neural origin of tumors and cutaneous signs. They affect nearly 80 thousand of Brazilians. In recent years, the increased scientific knowledge on NF has allowed better clinical management and reduced complication morbidity, resulting in higher quality of life for NF patients. In most cases, neurology, psychiatry, dermatology, clinical geneticists, oncology and internal medicine specialists are able to make the differential diagnosis between NF and other diseases and to identify major NF complications. Nevertheless, due to its great variability in phenotype expression, progressive course, multiple organs involvement and unpredictable natural evolution, NF often requires the support of neurofibromatoses specialists for proper treatment and genetic counseling. This Part 1 offers step-by-step guidelines for NF differential diagnosis. Part 2 will present the NF clinical management.

Neurofibromatoses (NF) constituem um grupo de doenças genéticas com predisposição ao crescimento de múltiplos tumores: tipo 1 (NF1), tipo 2 (NF2) e schwannomatose (SCH). Estas doenças têm em comum a origem neural dos tumores e os sinais cutâneos. Afetam cerca de 80 mil brasileiros. O maior conhecimento científico sobre as NF tem permitido melhor manejo clínico, redução da morbidade das complicações e melhor qualidade de vida. Na maioria dos casos, os especialistas em neurologia, dermatologia, genética clínica, oncologia e medicina interna estão capacitados a realizar o diagnóstico diferencial e identificar suas principais complicações. Devido à sua variabilidade fenotípica, curso progressivo, multiplicidade de órgãos acometidos e evolução imprevisível, as NF frequentemente necessitam de especialistas em NF para o acompanhamento. A Parte 1 deste texto oferece orientações para o diagnóstico de cada tipo de NF e discute os diagnósticos diferenciais com outras doenças. A Parte 2 oferecerá orientações em relação ao manejo clínico das NF.

Concordance between cytopathology and incisional biopsy in the diagnosis of oral squamous cell carcinoma

Oral cytopathology is a simple, non-invasive technique that could be used for early detection of oral premalignant and malignant lesions, but the effectiveness of this diagnostic approach remains controversial. The aim of this study was to evaluate the sensitivity, specificity, positive and negative predictive values, and accuracy of cytopathology for diagnosing oral squamous cell carcinoma (OSCC) and the diagnostic concordance between cytopathological and histopathological diagnoses. The study enrolled 172 patients at outpatient clinics who presented with oral lesions suspicious of malignancy. All patients underwent oral cytological scrapes followed by an incisional biopsy. Of 148 cases that were histopathologically diagnosed with OSCC, the cytopathological method diagnosed 123 positive cases and resulted in a suspicion of OSCC in 16 patients. Based on these data, the sensitivity was 83.1%, the specificity was 100.0%, the positive predictive value was 100.0%, the negative predictive value was 49.0%, and the accuracy was 85.5%. The diagnostic concordance between histopathological and cytopathological examinations was 83.1% for OSCC and 85.7% for non-neoplastic lesions. The results indicate that cytopathological diagnosis had good concordance with histopathological diagnosis and showed high sensitivity, specificity, positive predictive value, and accuracy. We conclude that the sensitivity of oral cytopathology is sufficient to justify its use as a diagnostic screening test and to confirm the malignant nature of epithelial cells, mainly for the classification of OSCC. Therefore, cytopathology may be a reliable method for referring patients who require diagnosis of suspected oral cancer for starting treatment.

Progesterone and Estrogen Receptors in Neurofibromas of Patients with NF1.

Neurofibromatosis type 1 (NF1) or von Recklinghausen disease is a genetic disorder affecting the growth of cells in nervous system. One of the most remarkable characteristics of this disease is the development of benign tumors of the nervous system (neurofibromas).The purpose of this study was to test tissue samples taken from neurofibromas and plexiform neurofibromas of NF1 patients for the presence of estrogen and progesterone receptors. We used previously collected samples from patients registered in the database of the Centro Nacional de Neurofibromatose (CNNF-Brazil). Samples from twenty-five patients in the database presenting plexiform neurofibromas (N1 group) and 25 samples from the same database from patients presenting neurofibromas (N2 group) were tested.We observed positive staining for progesterone receptors in 13 of the neurofibroma samples and 19 of the plexiform neurofibroma samples. Among the neurofibroma samples, we observed one sample with positive estrogen receptor staining, but none of the plexiform neurofibroma samples showed positive staining. We suggest further studies to investigate in greater depth possible hormonal influences on the development and growth of neurofibromas and plexiform neurofibromas in NF1.

Tamoxifen decreases the myofibroblast count in the healing bile duct tissue of pigs

OBJECTIVE: The aim of this study was to evaluate the effect of oral tamoxifen treatment on the number of myofibroblasts present during the healing process after experimental bile duct injury. METHODS: The sample consisted of 16 pigs that were divided into two groups (the control and study groups). Incisions and suturing of the bile ducts were performed in the two groups. Tamoxifen (20 mg/day) was administered only to the study group. The animals were sacrificed after 30 days. Quantification of myofibroblasts in the biliary ducts was made through immunohistochemistry analysis using anti-alpha smooth muscle actin of the smooth muscle antibody. Immunohistochemical quantification was performed using a digital image system. RESULTS: In the animals treated with tamoxifen (20 mg/day), there was a significant reduction in immunostaining for alpha smooth muscle actin compared with the control group (0.1155 vs. 0.2021, p = 0.046). CONCLUSION: Tamoxifen reduced the expression of alpha smooth muscle actin in the healing tissue after bile duct injury, suggesting a decrease in myofibroblasts in the scarred area of the pig biliary tract. These data suggest that tamoxifen could be used in the prevention of biliary tract stenosis after bile duct surgeries.

Prevalence of oral lichen planus in Brazilian patients with HCV infection.

OBJECTIVE: The objective of this investigation was to assess the prevalence of oral lichen planus (OLP) in Brazilian patients infected with hepatitis C virus (HCV) from the state of Rio de Janeiro. STUDY DESIGN: The study group consisted of 134 patients with HCV infection. The control group consisted of 95 individuals. All patients were physically examined for evidence of OLP. The diagnosis of OLP was established on the basis of usual clinical features and histological findings. RESULTS: The prevalence of OLP was 1.5% in patients with HCV infection and 1.1% in the control group. There was no statistically significant difference between the 2 groups (P = .63). CONCLUSION: Our findings indicate that there is no association between OLP and HCV infection in Brazilian patients from the state of Rio de Janeiro.

Identification of growth hormone receptor in plexiform neurofibromas of patients with neurofibromatosis type 1

OBJECTIVE: The aim of this study was to investigate the presence of growth hormone receptor in plexiform neurofibromas of neurofibromatosis type 1 patients. INTRODUCTION: The development of multiple neurofibromas is one of the major features of neurofibromatosis type 1. Since neurofibromas commonly grow during periods of hormonal change, especially during puberty and pregnancy, it has been suggested that hormones may influence neurofibromatosis type 1 neurofibromas. A recent study showed that the majority of localized neurofibromas from neurofibromatosis type 1 patients have growth hormone receptor. METHODS: Growth hormone receptor expression was investigated in 5 plexiform neurofibromas using immunohistochemistry. RESULTS: Four of the 5 plexiform neurofibromas were immunopositive for growth hormone receptor. CONCLUSION: This study suggests that growth hormone may influence the development of plexiform neurofibromas in patients with neurofibromatosis type 1.

A Terapia hormonal em pacientes com neurofibromatose tipo 1 é segura? / Hormonal therapy in patientes with neurofibromatosis type 1 is safe?

Nos pacientes com neurofibromatose tipo 1 (NF1), o número de neurofibromas varia grandemente de pessoa para pessoa, mesmo em casos intrafamiliares, com a mesma mutação na linhagem germinativa no gene NF1. Além das mutações nesse gene, provavelmente fatores adicionais são importantes no desenvolvimento ou no crescimento dos neurofibromas. O objetivo deste artigo é revisar a literatura sobre o papel dos hormônios no desenvolvimento e crescimento dos neurofibromas e a segurança da terapia hormonal nos pacientes com NF1

In patients with neurofibromatosis type 1 (NF1), the number of neurofibromas varies greatly from person to person, even in intrafamilial cases, with the same germline mutation in the NF1 gene. In addition to the mutations in this gene, it is likely that additional factors are important in neurofibroma development or growth. The purpose of this article is to review the literature on the role of hormones in the development and growth of neurofibromas and the safety of hormonal therapy in patients with NF1

Polimorfismo GHRd3 e suas implicações na prática clínica / GHRd3 polymorphisms and their implications in clinical practice

O hormônio do crescimento (GH), ou somatotropina, é um hormônio secretado pela glândula hipófise anterior, cuja função é promover e controlar o crescimento corporal. Polimorfismos em receptores de hormônios têm sido apontados como importantes no desenvolvimento de muitas doenças e, entre os polimorfismos do gene GHR, o polimorfismo representado pela deleção do éxon 3 do gene GHR (GHRd3) tem sido o mais estudado. Este polimorfismo tem influência sobre a expressão e/ou responsividade do GHR, afetando sua ligação ao GH. O objetivo deste trabalho é realizar uma revisão sobre o polimorfismo GHRd3 e suas implicações na prática clínica

Growth hormone (GH) or somatotropin is a hormone secreted by the anterior pituitary gland, whose function is to promote and control the body growth. Polymorphisms in hormone receptors have been identified as important in the development of many diseases, and, among the GHR gene polymorphisms, the polymorphism represented by the deletion of exon 3 of the GHR gene (GHRd3) has been the most studied. This polymorphism influences the expression and/or responsiveness of GHR, affecting its binding to GH. The aim of this study is to perform a review of GHRd3 polymorphism and its implications for clinical practice