Jejunal stromal tumor and neurofibromatosis / Tumor estromal de jejuno e neurofibromatose

Abstract Gastrointestinal stromal tumors, although rare, are the most common primary mesenchymal neoplasms of the gastrointestinal tract and originate from the interstitial cells of Cajal. They present slow growth and symptoms such as bleeding, abdominal pain or discomfort, and the presence of an abdominal mass. The most affected organs are the stomach and small intestine. Differential diagnoses for gastrointestinal stromal tumor include adenocarcinoma and small intestine lymphoma, metastasis, and carcinoid tumor. Gastrointestinal stromal tumors have been associated with familial syndromes such as type 1 neurofibromatosis, considered a predisposing factor for tumors in the small intestine. This study aimed to report a case of gastrointestinal stromal tumor in the jejunal region in a patient with type 1 neurofibromatosis, followed-up for two years, who underwent laparoscopic segmental enterectomy and diagnosis determined by histopathology and immunohistochemistry. The diagnosis of small intestine gastrointestinal stromal tumor is challenging because of its low incidence, nonspecific symptoms, relative inaccessibility of the small intestine to conventional endoscopic examination, broad spectrum of radiological appearances, and the fact that the nature of the mass is difficult to determine with imaging examinations of the abdomen alone. Thus, the small intestine gastrointestinal stromal tumor may be erroneously diagnosed as pancreatic, gynecological, or mesenteric tumors. The literature does not present many reports on the association of jejunal gastrointestinal stromal tumor with neurofibromatosis. Understanding the tumoral behavior of small intestine gastrointestinal stromal tumor in this subgroup of patients would allow better follow-up.

Resumo Os tumores estromais gastrointestinais, embora raros, são as neoplasias mesenquimais primárias mais comuns do trato gastrointestinal e originam-se das células intersticiais de Cajal. Apresentam crescimento lento e manifestam sintomas como sangramento, dor ou desconforto abdominal e presença de massa abdominal. Os órgãos mais acometidos são estômago e intestino delgado. Os diagnósticos diferenciais para tumores estromais gastrointestinais incluem adenocarcinoma e linfoma de intestino delgado, metástases e tumor carcinoide. Os tumores estromais gastrointestinais têm sido associados a síndromes familiares como a neurofibromatose tipo 1, considerada um fator predisponente para tumores no intestino delgado. O objetivo desse trabalho é relatar um caso de tumor estromal gastrointestinal em região jejunal em paciente portadora de neurofibromatose tipo 1, com 2 anos de seguimento, submetida a enterectomia segmentar laparoscópica e diagnóstico determinados pela histopatologia e imuno-histoquímica. O diagnóstico de tumor estromal gastrointestinal do intestino delgado é desafiador, devido a sua baixa incidência, sintomas inespecíficos, relativa inacessibilidade do intestino delgado ao exame endoscópico convencional, amplo espectro de aparências radiológicas e difícil determinação da natureza da massa apenas com exames de imagens do abdome. Assim, tumor estromal gastrointestinal no intestino delgado podem ser erroneamente diagnosticados como tumores pancreáticos, tumores ginecológicos, ou tumores do mesentério. A descrição científica da associação de tumor estromal gastrointestinal de jejuno com neurofibromatose é incomum. Tais descrições permitem melhor seguimento dos pacientes a partir do momento que se entende o comportamento tumoral do tumor estromal gastrointestinal de intestino delgado nesse subgrupo de pacientes.

Utilidad del método clínico en el diagnóstico de algunos síndromes genéticos / Use fulness of the clinical method for diagnosing a group of clinical syndromes

Introducción: El método científico es un método general, constituido por varias etapas necesarias en el desarrollo de toda investigación científica. Es la forma de abordar la realidad y estudiar los fenómenos de la naturaleza, para descubrir su esencia y sus interrelaciones. El método clínico es la aplicación particular del método científico en el ejercicio de la práctica médica, y en las condiciones económicas actuales prevalecientes a nivel mundial resulta de inestimable valor su aplicación por las ventajas que reporta desde ese punto de vista, así como también por el bienestar del paciente que no es sometido a innecesarios y costosos procedimientos diagnósticos. Objetivo: Proporcionar al personal médico los criterios clínicos para lograr, mediante el uso del método clínico, el diagnóstico de algunos síndromes genéticos; los que han sido elaborados luego de una exhaustiva delineación clínica de estos. Métodos: Se realizó una revisión de los textos básicos de genética clínica y sindromología con independencia del año de su publicación y se realizó una búsqueda en las bases de datos Medline, Lilacs y Cochrane en el periodo comprendido entre 2012 y 2016. Conclusiones: Fueron reflejados los criterios establecidos para el diagnóstico clínico de catorce síndromes genéticos(AU)

Introduction: The scientific method is a general method which consists of several stages necessary for the development of all scientific research. It is the way to approach reality and to study the phenomena of nature, to discover their essence and interrelations. The clinical method is the particular application of the scientific method in the medical practice, and in the current economic conditions prevailing worldwide, its application is of inestimable value because of the advantages it brings from that point of view, as well as for the well-being of the patient, who would not be subjected to unnecessary and expensive diagnostic procedures. Objective: To provide the medical personnel with the clinical criteria to achieve, through the use of the clinical method, the diagnosis of some genetic syndromes. Such criteria have been elaborated after an exhaustive clinical description of those conditions. Methods: A review of basic texts of clinical genetics and syndromology was carried out regardless the year of publication. A search was carried out in the databases Medline, Lilacs and Cochrane, in the period between 2012 and 2016. Conclusions: The criteria established for the clinical diagnosis of fourteen genetic syndromes have been presented(AU)

Neurofibroma cervicodorsal en una niña con neurofibromatosis tipo 1 / Cervical dorsal neurofibroma in a girl with neurofibromatosis type 1 neurofibroma / Neurofibroma cervicodorsal em uma criança com neurofibromatose tipo 1

La neurofibromatosis es el síndrome neurocutáneo más frecuente, una enfermedad hereditaria con afectación multisistémica. Se distinguen tres formas clínicas de la enfermedad; la neurofibromatosis tipo 1 (NF-1) es la más frecuente. A las lesiones cutáneas, presentes en la mayoría de los casos, se pueden asociar tumores en cualquier localización. Los neurofibromas son característicos de la NF-1. El objetivo de esta comunicación es describir una complicación poco frecuente de la NF-1 que representa un desafío terapéutico debido a la topografía y frecuencia de recidivas. Se trata de una niña de 3 años con NF-1 con síntomas de mielopatía multisegmentaria de instalación progresiva de dos meses de evolución. La imagenología evidenció una tumoración cérvico-dorsal con compresión medular. La exéresis tumoral permitió confirmar neurofibroma intradural, extramedular. Los neurofibromas plexiformes se caracterizan por su comportamiento infiltrativo y diseminación paraespinal extensa. La resección de estas lesiones genera habitualmente morbilidad asociada al compromiso de estructuras críticas extraespinales y dificulta su resección completa tal como ocurrió en el caso clínico presentado. Se destaca la importancia de realizar un correcto seguimiento clínico y eventualmente imagenológico de los pacientes con NF-1 para detectar y abordar oportunamente los tumores, su complicación más importante.

Neurofibromatosis is one of the most frequent neurocutaneous syndrome. It is an inherited diseasewhich affects multiple systems. Three clinical presentations of the disease can be distinguished being type 1 neurofibromatosis the most common. Tumors at any body location can be associated to the usually presented cutaneous lesions. Neurofibromas are characteristic of type 1 neurofibromatosis. The aim of this study is to describe a less frequent complication of the disease which represents a therapeutic challenge due to its topography and frequency of recurrences. This is the case of a 3 year-old girl with type 1 neurofibromatosis with symptoms of multisegmental myelopathy. A cervical-dorsal tumor with medullary compression was shown in medical imaging. Tumor extraction allowed to confirm intradural, extramedullary neurofibroma. Plexiform neurofibromas are characterized by their infiltrative behavior and extensive paraspinal dissemination. Resection of these lesions usually generates morbidity associated with the involvement of extra-spinal critical structures and hinders their complete resection as occurred in the presented clinical case. It is important to perform a correct clinical and eventually imaging follow-up of patients with NF-1 to detect and treat tumors, its most important complication.

Neurofibromatose é a syndrome neurocutânea mais freqüente, uma doença hereditária com envolvimento multissistêmico. Três formas clínicas da doença são distinguidas. A neurofibromatose tipo 1 (NF-1) é a mais freqüente. As lesões cutâneas, presentes na maioria dos casos, podem ser associadas a tumores em qualquer localização. Neurofibromas são característicos de NF-1. O objetivo desta comunicação é descrever uma complicação rara de NF-1 que representa um desafio terapêutico devido à topografia e freqüência de recidivas. Trata-se de uma menina de 3 anos com NF-1 com sintomas de mielopatia multisegmentar de instalação progressiva de dois meses de evolução. A imagem mostrou um tumor cérvico-dorsal com compressão da medula espinhal. A excisão do tumor permitiu confirmar neurofibroma intradural, extramedular. Os neurofibromes plexiformes são caracterizados pelo seu comportamento infiltrativo e sua disseminação paraspinal extensa. A ressecção dessas lesões geralmente gera morbidade associada ao envolvimento de estruturas críticas extra-espinhais e dificulta sua ressecção completa, como ocorreu no caso clínico apresentado. Destaca-se a importância de realizar um acompanhamento clínico e, eventualmente, de imagens de pacientes com NF-1 para detectar e tratar oportunamente os tumores, sua complicação mais importante.

Metástasis craneal de tumor maligno de la vaina nerviosa periférica / Cranial metastasis of malignant tumor of the peripheral nerve sheath

Introducción: Los tumores malignos de la vaina nerviosa periférica (TMVNP) son tumores raros y heterogéneos, muy agresivos y localmente invasivos, siendo entre el 5 y 10% de todos los tumores de partes blandas. Alrededor del 50% de los tumores malignos de las vainas nerviosas se asocian a neurofibromatosis tipo 1. Caso clínico: Se presenta el caso de una paciente de 32 años portadora de neurofibromatosis tipo 1, que consulta por lesión ocupante de espacio en región axilar, encontrándose además en estudio por dolor neurálgico en región facial. Se realiza exéresis completa de la tumoración axilar con diagnóstico de Tumor Maligno de la Vaina Nerviosa Periférica (TMVNP). Debido a la falta de mejoría del dolor neurálgico y al agregado de alteraciones oculares se realiza nueva resonancia magnética por imágenes (RMI) de cráneo donde se visualiza lesión ocupante de espacio craneal. Se procede a la exéresis parcial de la lesión, cuyo diagnóstico anatomopatológico resulta en diagnóstico de neoplasia mesenquimática maligna de alto grado vinculable a Tumor maligno de la vaina nerviosa periférica. La paciente finalmente fallece 57 días post-operatorios. Conclusión: Los TMVNP poseen un mal pronóstico, con tasas de supervivencia a los 2 y 5 años aproximadamente, de 33 y 12%, siendo el tratamiento quirúrgico uno de los factores pronósticos independientes con mayor impacto en la supervivencia.

Introduction: Malignant peripheral nerve sheath tumors (MPNST) are rare and heterogeneous tumors, very aggressive and locally invasive, being between 5 and 10% of all soft tissue tumors. Clinical Case: A 32 year old patient with type 1 neurofibromatosis attends to the hospital with an axilar tumour. The patient was in study due to a trigeminal neuralgia. A complete remotion of the axilar lesion was achieved with the diagnosis of Malignant Peripheral Nerve Sheath Tumor (MPNST). Since the neuralgic symptom was worsening and new ophthalmological symptoms appeared, a new cerebral magnetic resonance imaging MRI was done. This study evidenced an intra-extra-cranial tumour. A partial resection of the mass was done. The pathological diagnosis was a mesenchymal tumor due to a MPNST metastasis. The patient died 57 days after the second surgery.Conclusion: Malignant peripheral nerve sheath tumors have a poor prognosis, with survival rates at 2 and 5 years of 33 and 12%, respectively, being surgical treatment one of the independent factors with more impact in outcome.

Type I neurofibromatosis with pheochromocytoma.

Type 1 neurofibromatosis is a common neurocutaneous syndrome with various common and uncommon associations. The present case represents an uncommon association of type 1 neurofibromatosis and pheochromocytoma, which is probably due to mutation of NF-1 gene.

Anestesia en la neurofibromatosis tipo 1. A propósito de un caso / Anesthesia in case of type 1 neurofibromatosis

Introducción: La neurofibromatosis tipo 1 o neurofibromatosis de Von Recklinghausen es el trastorno neurocutáneo más frecuente, presentándose aproximadamente en 1 de cada 3000 personas. Es un síndrome genético que se transmite de manera autosómica dominante. Los criterios para el diagnóstico clínico se establecieron desde 1988, a partir de dos o más manchas color café con leche de más de cinco milímetros de diámetro en individuos pospuberales; dos o más neurofibromas de cualquier tipo o un neurofibromas plexiforme; pecas axilares o en región inguinal; glioma óptico; dos o más nódulos de Lisch; lesiones óseas tales como displasia de esfenoides o afinamiento de la corteza de los huesos largos, con o sin pseudoartrosis; así como un familiar de primer grado de consanguinidad con el diagnóstico de neurofibromatosis tipo 1. Objetivo Presentar la conducta perioperatoria de los pacientes portadores de neurofibromatosis tipo 1. Caso clínico IRA masculino, blanco de 71 años con antecedentes patológicos de neurofibromatosis tipo 1 diagnosticada desde los 15 años, insuficiencia cardíaca izquierda, hipertensión arterial y fibrilación auricular crónica con respuesta ventricular normal. Se diagnostica neurofibroma lumbar, se realizó exéresis total de la lesión. Conclusiones: resulta un desafío para el anestesiólogo la conducción peri anestésica del paciente con enfermedad de Von Recklinghausen.

Introduction: The type 1 neurofibromatosis or Von Recklinghausen's neurofibromatosis is the more frequent neurocutaneous disorder, present in approximately 1 of each 3000 persons. It is a genetic syndrome with an autosomal dominant way of transmission. Criteria for the clinical diagnosis were made in 1988, from two or more spots of white coffee color larger than 5 millimeters diameter in postpubertal subjects, two or more neurofibroma of any type or a plexiform neurofibroma, axillary freckles or in the inguinal region, optical glioma; two or more Lisch's nodules, bone lesions such as sphenoid dysplasia or a thin cortex of large bones with or without pseudoarthrosis, as well as a first grade relative blood relation diagnosed with type 1 neurofibromatosis. Objective: To present the operative behavior of patients presenting with type 1 neurofibromatosis. Clinical case: IRA white male patient aged 71 with a pathologic history of type 1 neurofibromatosis diagnosed from 15 years old with a left heart insufficiency, high blood pressure and chronic auricular fibrillation with a normal ventricular response. Diagnosis of lumbar neurofibroma was made carrying out a total exeresis of the lesion. Conclusions: The peri-anesthetic conduction of patient diagnosed with Von Recklinghausen's disease is a challenge for the anesthesiologist.

Neurofibromatose tipo 1: aspectos radiológicos do tórax / Type 1 neurofibromatosis: radiological findings of the chest

OBJETIVO: Identificar alterações e frequências nas radiografias simples do tórax sugestivas de neurofibromatose tipo 1 e avaliar a possibilidade de inclusão de massa no mediastino posterior como critério de diagnóstico de neurofibromatose tipo 1. MATERIAIS E MÉTODOS: Foram realizadas radiografias com técnica padrão de tórax em póstero-anterior e em perfil de 141 pacientes com neurofibromatose tipo 1, atendidos no Serviço de Radiologia do Hospital de Base e Faculdade de Medicina de São José do Rio Preto, SP. Os resultados obtidos foram avaliados por métodos não paramétricos ao nível de 0,05 de significância (p = 0,05). RESULTADOS: No presente estudo, 141 pacientes com neurofibromatose tipo 1 realizaram radiografia de tórax, sendo as alterações mais frequentes: erosão óssea das costelas (19,8 por cento), peito escavado (12,0 por cento), cifoescoliose (3,5 por cento) e massas no mediastino posterior (7,1 por cento). Esses resultados sugerem que as massas (neurofibroma e meningocele) devem ser incluídas como critério diagnóstico para neurofibromatose tipo 1, juntamente com displasia do osso esfenoide, pseudoartrose e afinamento do córtex de ossos longos, conforme definido pelo National Institutes of Health. CONCLUSÃO: A presença das massas no mediastino posterior associada às alterações ósseas características definidas pelo National Institutes of Health indicam ser um achado consistente para se considerar como critério diagnóstico da doença.

OBJECTIVE: To identify chest radiography findings suggestive of type 1 neurofibromatosis, establishing their frequency and evaluating the possibility of including the presence of posterior mediastinal masses as a criterion for the diagnosis of type 1 neurofibromatosis. MATERIALS AND METHODS: The present study included 141 patients with type 1 neurofibromatosis assisted at the Service of Radiology of Hospital de Base and Faculdade de Medicina de São José do Rio Preto, SP, Brazil, and submitted to standard chest radiography in postero-anterior and lateral views. The results were analyzed by non-parametric methods and the level of statistical significance was set at 0.05 (p = 0.05). RESULTS: The most frequent findings were the following: ribs erosion (19.8 percent), pectus excavatum (12.0 percent), kyphoscoliosis (3.5 percent) and posterior mediastinal masses (7.1 percent). Such results suggest that posterior mediastinal masses (neurofibroma and meningocele) should be included as a diagnostic criterion of type 1 neurofibromatosis, in conjunction with dysplasia of the sphenoid wing, pseudoarthrosis and thinning of long bone cortex, as defined by the National Institutes of Health. CONCLUSION: The presence of posterior mediastinal masses in association with the typical bone changes defined by the National Institutes of Health is a consistent finding to be considered as a diagnostic criterion of the disease.

Tumor de vaina nerviosa periférica maligno asociado a neurofibromatosis tipo 1: informe de dos casos / Malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1: report of two clinical cases

Introducción: El tumor de vaina nerviosa periférica maligno (TVNPM) es un sarcoma de alto grado de malignidad, originado de componentes de las vainas nerviosas, fibroblastos, células perineurales y células de Schwann, que se asocia a neurofibromatosis tipo 1 con un riesgo de 10 a 13 %. Casos clínicos: Se presentan dos casos de TVNPM asociado a neurofibromatosis tipo 1. El primero presentó dolor moderado sin causa aparente, además de lesión intrarraquídea en resonancia magnética nuclear, manejada quirúrgicamente en dos ocasiones. Histológicamente correspondió a lesión neurofibromatosa en transición con neoplasia maligna. El segundo se manifestó con cifoescoliosis torácica, dolor y aumento de volumen. Asociado a la deformidad, la resonancia magnética mostró tumor en la región torácica posterior (T1 a T8), que fue resecado; se identificó neoplasia sarcomatosa infiltrante, muy celular, con inmunopositividad para proteína S100 y vimentina. Conclusiones: Los TNVPM son sarcomas con alto índice de recurrencia, capaces de producir metástasis a distancia desde etapas tempranas. A pesar de la resección amplia, los pacientes descritos no sobrevivieron dado el avance y tamaño de las lesiones. Por el crecimiento progresivo de los TNVPM y la dificultad anatómica para su abordaje, deberá tenerse un control estrecho de los pacientes con neurofibromatosis tipo 1 a fin de identificar tempranamente la transformación maligna de las lesiones.

BACKGROUND: Malignant peripheral nerve sheath tumor (MPNST) is a sarcoma with a high grade of malignancy originating in the nerve sheath components, fibroblasts, perineural cells, and Schwann cells. It is associated with neurofibromatosis type 1 (NF-1) with a risk of 10-13%. CLINICAL CASES: We present two cases of NF-1-associated MPNST. The first patient presented moderate pain with no apparent cause, in addition to the presence of intraspinal lesion demonstrated by nuclear magnetic resonance imaging (NMRI), which was managed surgically on two occasions. Histologically, it corresponded to a neurofibromatosis lesion in transition with malignant neoplasm. The second case manifested with thoracic kyphoscoliosis, pain, and an increase in volume. Associated with the deformity, MRI showed a withering tumor in the posterior thoracic region (T1-T8), observing an infiltrating, cellular sarcomatous neoplasm with immunopositivity for S-100 protein and vimentin. CONCLUSIONS: MPNSTs are sarcomas with a high index of recurrence with the ability to produce distant metastasis during early stages. Despite wide resection, patients did not survive due to the advancement and size of the lesions (determining factors in the prognosis). Due to the progressive growth of MPNST and the anatomic difficulty for its approach, there should be strict surveillance of patients with NF-1 for early detection of malignant transformation in these lesions.