mRNA BRAF expression helps to identify papillary thyroid carcinomas in thyroid nodules independently of the presence of BRAFV600E mutation.

Literature has consistently shown associations of BRAFV600E mutation with papillary thyroid cancer clinical features. However, the clinical utility of BRAF expression has not been clinically explored so far. We studied 67 thyroid nodules (32 benign nodules and 35 PTC cases). BRAF mRNA expression levels measured by a quantitative real-time PCR and a PCR-RFLP were used to identify BRAFV600E mutation. BRAF mRNA expression was significantly higher in malignant (198.2±373.9 AU) than in benign (4.1±6.9 AU) nodules (p<0.0001). BRAF expression identified malignancy with a sensitivity of 80.6%, specificity of 77.1%, positive predictive value of 75.8%, and negative predictive value of 81.8%. A cut-point of 4.712, identified by the ROC curve, was able to sort out malignant nodules with an accuracy of 78.8%. Although we did not find any correlation between the presence of BRAF V600E mutation and clinical or tumor features such as age (p=0.309), gender (p=0.5453), ethnicity (p=0.9820), tumor size (p=1.000), multifocality (p=0.2530) or mRNA levels (p=0.7510), the study power for BRAF expression and diagnosis (99%; FPRP=0.85) indicated that data is noteworthy despite the relative small number of patients investigated. We concluded that BRAF mRNA expression may help to identify PTC among thyroid nodules independently of the presence of BRAFV600E mutation.

Angiomiolipoma de fossa infratemporal / Infratemporalis fossa angiomyolipoma

Angiomiolipomas são neoplásicas mesenquimais benignas que ocorrem principalmente no córtex renal. Ocorrem mais comumente em pacientes com esclerose tuberosa chegando a 50% destes casos (doença de Bourneville) e também em indivíduos normais. A forma extra-renal é rara. Descreveremos um caso de angiomiolipoma de fossa infratemporal diagnosticado e ressecado por acesso tipo degloving. A coloração por HE levantou a suspeita diagnóstica, o que foi confirmado por imunoistoquímica. O diagnóstico, procedimento cirúrgico e aspectos patológicos da doença serão discutidos.

Angiomyolipomas are benign mesenchymal neoplasms that occur mainly in renal cortex. They may arise in patients with tuberous sclerosis reaching up to 50% of this cases (Bourneville?s disease), occurring also in normal individuals. Extrarenal angiomyolipomas are rare. We describe a case of diagnosed and resected angiomyolipoma in infratemporalis fossa, made by a degloving approach. H&E stain made this diagnosis suspicious, and it was confirmed by immunohistochemistry. Diagnosis, surgery procedure and pathological features regarding this pathology are discussed.

Schwannomas in the head and neck: retrospective analysis of 21 patients and review of the literature.

CONTEXT AND OBJECTIVE: Schwannomas are benign neoplasms of the peripheral nerves originating in the Schwann cells. According to their cellularity, they can be subdivided into Antoni A or Antoni B types. They are rare and usually solitary, with clearly delimited capsules. They occur in the head and neck region in only 25% of the cases, and may be associated with Von Recklinghausen's disease. The present study retrospectively analyzed some data on this disease in the head and neck region and reviewed the literature on the subject. DESIGN AND SETTING: Retrospective study at Head and Neck Service, Universidade Estadual de Campinas. METHODS: Data on 21 patients between 1980 and 2003 were reviewed. The sites of cervical schwannomas and the intraoperative, histopathological and postoperative clinical status of these cases were studied. Diagnostic methods, type of surgery and association with neurofibromatosis were evaluated. RESULTS: The patients' ages ranged from 16 to 72 years. Four patients had a positive past history of type I neurofibromatosis or Von Recklinghausen's disease. The nerves affected included the brachial and cervical plexuses, vagus nerve, sympathetic chain and lingual or recurrent laryngeal nerve. The nerve of origin was not identified in six cases. Tumor enucleation was performed in 16 patients; the other five required more extensive surgery. CONCLUSION: Schwannomas and neurofibromas both derive from Schwann cells, but are different entities. They are solitary lesions, except in Von Recklinghausen's disease. They are generally benign, and rarely recur. The recommended surgical treatment is tumor enucleation.

Schwannomas in the head and neck: retrospective analysis of 21 patients and review of the literature

CONTEXT AND OBJECTIVE: Schwannomas are benign neoplasms of the peripheral nerves originating in the Schwann cells. According to their cellularity, they can be subdivided into Antoni A or Antoni B types. They are rare and usually solitary, with clearly delimited capsules. They occur in the head and neck region in only 25 percent of the cases, and may be associated with Von Recklinghausen's disease. The present study retrospectively analyzed some data on this disease in the head and neck region and reviewed the literature on the subject. DESIGN AND SETTING: Retrospective study at Head and Neck Service, Universidade Estadual de Campinas. METHODS: Data on 21 patients between 1980 and 2003 were reviewed. The sites of cervical schwannomas and the intraoperative, histopathological and postoperative clinical status of these cases were studied. Diagnostic methods, type of surgery and association with neurofibromatosis were evaluated. RESULTS: The patients' ages ranged from 16 to 72 years. Four patients had a positive past history of type I neurofibromatosis or Von Recklinghausen's disease. The nerves affected included the brachial and cervical plexuses, vagus nerve, sympathetic chain and lingual or recurrent laryngeal nerve. The nerve of origin was not identified in six cases. Tumor enucleation was performed in 16 patients; the other five required more extensive surgery. CONCLUSION: Schwannomas and neurofibromas both derive from Schwann cells, but are different entities. They are solitary lesions, except in Von Recklinghausen's disease. They are generally benign, and rarely recur. The recommended surgical treatment is tumor enucleation.

CONTEXTO E OBJETIVO: Schwannomas são neoplasias benignas dos nervos periféricos, originadas nas células de Schwann, podendo, baseado na sua celularidade, ser subdivididas em Antoni A ou B. São de ocorrência infreqüente, geralmente únicas, com cápsula bem delimitada; ocorrendo na região de cabeça em pescoço em apenas de 25 por cento dos casos, podendo estar relacionadas à doença de Von Recklinghausen. Este estudo objetiva analisar retrospectivamente dados concernentes a esta afecção na região de cabeça e pescoço e rever os dados da literatura. TIPO DE ESTUDO E LOCAL: Estudo retrospectivo realizado no Serviço de Cirurgia de Cabeça e Pescoço, Universidade Estadual de Campinas. MÉTODOS: Revisamos dados de 21 pacientes tratados entre 1980 e 2003. Sítio do tumor, status intra e pós-operatório e laudo histopatológico foram estudados nos schwannomas cervicais. Métodos diagnósticos, tipo de cirurgia e associação com neurofibromatose foram avaliados. RESULTADOS: A idade variou entre 16 e 72 anos. Quatro pacientes tinham história positiva para neurofibromatose tipo I ou doença de Von Recklinghausen. Os nervos afetados incluíram os plexos braquial e cervical, os nervos vago, lingual e recorrente e a cadeia simpática. O nervo de origem não foi identificado em seis casos. Enucleação do tumor foi feita em 16 pacientes; os outros cinco requereram cirurgias mais extensas. CONCLUSÃO: Schwannomas e neurofibromas derivam das células de Schwann, mas são tumores diferentes. São lesões solitárias, exceto na doença de Von Recklinghausen, geralmente benignas e raramente recidivam. O tratamento cirúrgico recomendado é a enucleção do tumor.

Head and neck reconstruction using infrahyoid myocutaneous flaps

CONTEXT AND OBJECTIVE: The use of pedicled myocutaneous flaps in head and neck reconstruction is widely accepted. Here we describe our experience with infrahyoid flaps (IHFs) employed to cover surgical defects in the oral cavity and oropharynx in patients with benign and malignant tumors. The aim was to evaluate the success rate for infrahyoid myocutaneous flap procedures performed at a single institution. DESIGN AND SETTING: Retrospective study, at the Head and Neck Surgery Service, Unicamp. METHODS: Fourteen IHFs were used to reconstruct surgical defects in eleven men (78.5 percent) and three women (21.5 percent) with a mean age of 66.4 years. The anterior floor of the mouth was reconstructed in nine patients (64.2 percent), the base of tongue in three (21.4 percent), the lateral floor in one (7.1 percent), and the retromolar area (7.1 percent) in one. Thirteen patients (92.8 percent) had squamous cell carcinoma (SCC) and one (7.2 percent) ameloblastoma. The disease stage was T3 in eight (61.5 percent) of the SCC cases and T4 in five (38.5 percent). RESULTS: No patient presented total flap loss or fistula. The most common complication was epidermolysis, which delayed the beginning of oral ingestion. The patients with SCC received postoperative radiotherapy without major consequences to the flap. CONCLUSION: IHF is a safe and reliable procedure for reconstructing head and neck surgical defects. Due to its thinness and malleability, its use for oral cavity and oropharynx defects provides favorable cosmetic and functional outcomes. Complications, when present, are easy to manage.

CONTEXTO E OBJETIVO: O uso de retalhos miocutâneos pediculados para reconstrução cirúrgica na região de cabeça e pescoço (RCP) é consagrado. Apresentaremos a experiência com o uso do retalho infrahiódeo (RIH) em reconstrução de defeitos cirúrgicos na cavidade oral e orofaringe em portadores de tumores benignos e malignos. O objetivo foi avaliar o índice de sucesso do RIH em defeitos da cavidade oral em uma única instituição. TIPO DE ESTUDO E LOCAL: Estudo retrospectivo, no Serviço de Cirurgia de Cabeça e Pescoço, Universidade Estadual de Campinas (Unicamp). MÉTODOS: Foram utilizados 14 RIH para reconstrução em RCP em 11 homens (78,5 por cento) e 3 mulheres (21,5 por cento). Em nove (64,2 por cento) pacientes, a reconstrução foi de assoalho oral anterior, três (21,4 por cento) de base de língua, um (7,1 por cento) de assoalho lateral e um de trígono retromolar (7,1 por cento). O carcinoma espinocelular (CEC) foi neoplasia presente em 13 deles (92,8 por cento) e um (7,2 por cento) ameloblastoma de mandíbula. O estádio era T3 em oito (61,5 por cento) e T4 em cinco (38,5 por cento) dos casos de CEC. RESULTADOS: Não houve caso de perda total do retalho ou fístula. A complicação mais comum foi epidermólise, retardando o início da ingestão oral. Pacientes com CEC receberam radioterapia pós-operatória sem conseqüências para o retalho. CONCLUSÃO: O RIH é um retalho seguro e confiável para o cirurgião de cabeça e pescoço na reconstrução na RCP. Devido à espessura e maleabilidade, sua utilização para reconstrução de defeitos da cavidade oral e orofaringe proporciona bom aspecto cosmético e funcional. Complicações são de fácil manuseio.

Management of salivary gland adenoid cystic carcinoma: institutional experience of a case series.

CONTEXT AND OBJECTIVE: Salivary gland tumor management requires long-term follow-up because of tumor indolence and possible late recurrence and distant metastasis. Adenoid cystic carcinoma (ACC) accounts for 10-15% of such tumors. The aim here was to evaluate surgical and clinical management, staging and follow-up of ACC patients in one academic institution. DESIGN AND SETTING: Retrospective study at Head and Neck Service, Universidade Estadual de Campinas. METHODS: Data on 21 patients treated between 1993 and 2003 were reviewed. Management utilized clinical staging, histology and imaging. Major salivary gland tumor extent was routinely assessed by preoperative ultrasonography. Diagnosis, surgery type, margin type (negative/positive), postoperative radiotherapy and recurrence (presence/absence) were evaluated. RESULTS: There were eleven major salivary gland tumors (52.3%), seven submandibular and four parotid. Ten patients (47.7%) had minor salivary gland ACC (all in palate), while the submandibular was the most frequently affected major one. Diagnoses were mostly via fine-needle aspiration (FNA) and incision biopsy. Frozen sections were used for six patients. There was good ultrasound/FNA correlation. Sixteen (76%) had postoperative radiotherapy. One (4.7%) died from ACC and five now have recurrent disease: three (14.2%) locoregional and two (9.5%) distant metastases. CONCLUSION: Adenoid cystic carcinoma has locally aggressive behavior. In 21 cases, of ACC, the facial nerve was preserved in all except in the few with gross tumor involvement. Treatment was defined from physical examination, imaging, staging and histology.

Management of salivary gland adenoid cystic carcinoma: institutional experience of a case series

CONTEXTO E OBJETIVO: Tumores de glândulas salivares exigem acompanhamento clínico por longos períodos devido à evolução indolente dessas neoplasias e à possibilidade tardia de recidivas locais e metástases a distância. O carcinoma adenóide cístico (CAC) compreende 10% a 15% dos tumores de glândulas salivares. O objetivo deste trabalho é analisar a conduta terapêutica, o estadiamento e o acompanhamento de pacientes com CAC em cabeça e pescoço em instituição de ensino. TIPO DE ESTUDO E LOCAL: Estudo retrospectivo realizado no Serviço de Cirurgia de Cabeça e Pescoço, Universidade Estadual de Campinas. MÉTODOS: Revemos o tratamento do CAC de 21 pacientes tratados entre 1993 e 2003. Os pacientes foram estadiados conforme os critérios clínicos da União Internacional Contra o Câncer (UICC) de 1998 e o tratamento foi baseado na avaliação clínica e imagenológica. RESULTADOS: 11 tumores estavam localizados nas glândulas salivares maiores (52,3%), sendo sete em glândula submandibular e quatro em parótida. Em 10 pacientes (47,7%), os tumores estavam em glândulas salivares menores (todos em palato). Quando ocorreram em glândula salivar maior, a submandibular foi a mais acometida. O diagnóstico foi realizado quase sempre por punção aspirativa por agulha fina (PAAF) ou biópsia. Biópsia por congelação no intraoperatório foi realizada em seis pacientes. Obtivemos boa correlação entre o ultra-som e a PAAF. Em 16 pacientes (76%), a radioterapia pós-operatória foi realizada. Um dos pacientes (4,7%) foi a óbito pelo CAC e cinco tiveram recidivas da doença, sendo três locoregionais (14,2%) e dois (9,5%) por metástases a distância. CONCLUSÃO: Carcinoma adenóide cístico apresenta comportamento agressivo localizado. Em 21 casos, o nervo facial foi preservado, exceto nos raros pacientes com invasão grosseira pelo tumor. O tratamento baseou-se no exame físico, exames de imagem, estágio do tumor e diferenciação histológica.

Head and neck reconstruction using infrahyoid myocutaneous flaps.

CONTEXT AND OBJECTIVE: The use of pedicled myocutaneous flaps in head and neck reconstruction is widely accepted. Here we describe our experience with infrahyoid flaps (IHFs) employed to cover surgical defects in the oral cavity and oropharynx in patients with benign and malignant tumors. The aim was to evaluate the success rate for infrahyoid myocutaneous flap procedures performed at a single institution. DESIGN AND SETTING: Retrospective study, at the Head and Neck Surgery Service, Unicamp. METHODS: Fourteen IHFs were used to reconstruct surgical defects in eleven men (78.5%) and three women (21.5%) with a mean age of 66.4 years. The anterior floor of the mouth was reconstructed in nine patients (64.2%), the base of tongue in three (21.4%), the lateral floor in one (7.1%), and the retromolar area (7.1%) in one. Thirteen patients (92.8%) had squamous cell carcinoma (SCC) and one (7.2%) ameloblastoma. The disease stage was T3 in eight (61.5%) of the SCC cases and T4 in five (38.5%). RESULTS: No patient presented total flap loss or fistula. The most common complication was epidermolysis, which delayed the beginning of oral ingestion. The patients with SCC received postoperative radiotherapy without major consequences to the flap. CONCLUSION: IHF is a safe and reliable procedure for reconstructing head and neck surgical defects. Due to its thinness and malleability, its use for oral cavity and oropharynx defects provides favorable cosmetic and functional outcomes. Complications, when present, are easy to manage.

Lingual thyroid causing dysphonia: evaluation and management. Case report.

CONTEXT: Lingual thyroid gland is a rare clinical entity that is caused by the failure of the thyroid gland to descend to a normal cervical location during embryogenesis. The occurrence of an ectopic thyroid gland located at the base of the tongue may cause problems for the patient, with symptoms of dysphagia, dysphonia, upper airway obstruction or even hemorrhage at any time from infancy through adulthood. CASE REPORT: We report on a case of lingual thyroid gland in a 41-year-old female patient. The embryology and diagnosis of ectopic thyroid are discussed and its management is outlined. Features of the diagnostic and therapeutic evaluation are described with attention to the clinical findings, laboratory tests, thyroid scan and computed tomography imaging studies employed in the confirmation of diagnosis and planning of appropriate treatment. The history of the condition is reviewed and a treatment strategy is outlined. Surgical excision of the gland is reserved for cases of gland enlargement that result in compromised airways (dysphagia or dysphonia) or recurrent hemorrhage.

Lingual thyroid causing dysphonia: case report

CONTEXTO: Tireóide lingual é uma entidade rara, devida a falha na migração da glândula em sua fase embriogênica. A presença da glândula tireóide na base da língua pode acarretar sérios problemas aos pacientes, como disfagia e disfonia, obstrução de vias aéreas superiores e até hemorragia, em qualquer fase da vida. RELATO DE CASO: Apresentamos um caso de tireóide lingual em paciente de 41 anos de idade, discutindo-se a embriogênese, diagnóstico e conduta adequada para tratamento. Elementos para o diagnóstico e avaliação terapêutica são descritos com especial atenção aos achados clínicos, testes laboratoriais, além de metodologia de imagem como medicina nuclear e tomografia computadorizada, realizados para confirmação diagnóstica e planejamento da melhor conduta operatória. A excisão cirúrgica da tireóide ectópica é reservada para casos de aumento glandular, que podem resultar em disfunção das vias aéreas superiores (disfonia ou disfagia), além de hemorragia recorrente.