Tumor Rabdomioblástico Inflamatório Pulmonar: Relato de Caso / Pulmonary Inflammatory Rhabdomyoblastic Tumor: Case Report / Tumor Rabdomioblástico Inflamatorio Pulmonar: Informe de Caso

Introdução: Os sarcomas primários do pulmão são tumores malignos raros com incidência estimada em torno de 0,5% de todas as neoplasias pulmonares. De suas tipificações descritas na literatura, duas especialmente, os leiomiossarcomas e os rabdomiossarcomas, apresentam semelhanças em seu perfil genético, morfológico e imuno-histoquímico, o que os levou a receberem uma mesma classificação: tumor rabdomioblástico inflamatório. Esse tipo de tumor costuma acometer tecidos moles em extremidades e tronco, e predomina em meio a homens jovens e de meia-idade. Em razão do pequeno número de casos de tumores rabdomioblásticos relatados na literatura, tanto seu diagnóstico quanto seu tratamento são pouco descritos. Relato de caso: Paciente, sexo feminino, 19 anos, apresentou três episódios de infecção respiratória no lobo inferior do pulmão direito em um período de 18 meses. A tomografia computadorizada do tórax evidenciou obstrução do brônquio intermediário e áreas de bronquiectasias no lobo inferior direito. Diante disso, realizou-se bilobectomia inferior-média, conduzida por cirurgia robótica. A paciente recebeu alta hospitalar três dias depois do pós-operatório. A imuno-histoquímica revelou tumor rabdomioblástico inflamatório de baixo grau. Conclusão: Este relato apresentou um caso de tumor pulmonar raro, abordado por uma técnica cirúrgica ainda não relatada para esse tipo de patologia.

Introduction: Primary lung sarcomas are rare malignant tumors with an estimated incidence of around 0.5% of all lung neoplasms. Of their typifications described in the literature, two especially, leiomyosarcomas and rhabdomyosarcomas, have similarities in their genetic, morphological and immunohistochemical profile, which led them to be classified with the same name: inflammatory rhabdomyoblastic tumor. This type of tumor usually affects soft tissues in the extremities and trunk, and predominates among young and middle-aged men. Due to the small number of cases of rhabdomyoblastic tumors reported in the literature, both their diagnosis and treatment are poorly described. Case report: Female patient, 19 years old, who had three episodes of respiratory infection in the lower lobe of the right lung in a period of 18 months. Computed tomography of the chest showed obstruction of the intermediate bronchus and areas of bronchiectasis in the right lower lobe. In view of this, a lower middle bilobectomy was performed through robotic surgery. The patient was discharged from hospital three days after the operation. Immunohistochemistry revealed low-grade inflammatory rhabdomyoblastic tumor. Conclusion: This report described a case of a rare lung tumor, submitted to a surgical technique not yet reported for this type of pathology.

Introducción: Los sarcomas pulmonares primarios son tumores malignos raros con una incidencia estimada en torno al 0,5% de todas las neoplasias pulmonares. De sus tipificaciones descritas en la literatura, dos en especial, los leiomiosarcomas y los rabdomiosarcomas presentan similitudes en su perfil genético, morfológico e inmunohistoquímico, lo que los llevó a recibir la misma clasificación: tumor rabdomioblástico inflamatorio. Este tipo de tumor suele afectar a los tejidos blandos de las extremidades y el tronco, y predomina en hombres jóvenes y de mediana edad. Debido al escaso número de casos de tumores rabdomioblásticos reportados en la literatura, tanto su diagnóstico como su tratamiento están pobremente descritos. Informe del caso: Paciente de sexo femenino, 19 años que consultó por tres episodios de infección respiratoria en el lóbulo inferior del pulmón derecho en un período de 18 meses. La tomografía computarizada de tórax mostró obstrucción del bronquio intermedio y áreas de bronquiectasias en el lóbulo inferior derecho. Ante esto, se realizó una bilobectomía media baja mediante cirugía robótica. La paciente recibió el alta hospitalaria tres días después de la operación. Se realizó inmunohistoquímica y se definió el diagnóstico de tumor rabdomioblástico inflamatorio de bajo grado. Conclusión: Este informe presenta un caso de tumor pulmonar raro, tratado mediante una técnica quirúrgica aún no reportada para este tipo de patología.

Rabdomiosarcoma del ala nasal en un paciente pediátrico. Un reporte de caso / Nasal ala Alveolar Rhabdomyosarcoma in a pediatric patient. A rare case report

Dada la respiración nasal preferencial que tiene la población pediátrica en los primeros meses de vida, la obstrucción nasal tiene más repercusiones a nivel clínico a diferencia de un adulto, lo cual hace más prioritario su diagnóstico y manejo. Una de las principales causas de obstrucción nasal en niños son las masas nasales, las cuales debido a sus múltiples etiologías causan bastante incertidumbre diagnóstica en el equipo médico. En este artículo se presenta el caso de una paciente de 10 meses con una masa en el ala nasal de crecimiento rápido; se realiza un rápido diagnóstico de rabdomiosarcoma que requiere un adecuado manejo. El rabdomiosarcoma con patrón alveolar se presenta de forma inusual en esta ubicación, es por esto por lo que se considera importante presentar este caso para mantenerlo en el algoritmo diagnóstico como una posibilidad y que, así como en el caso presentado, se pueda tener un diagnóstico temprano, un tratamiento adecuado y un resultado estético y funcional favorable.

Given preferential nasal breathing in the first months of life in the pediatric population, nasal obstruction has more clinical repercussions than it would have in adults, hence the need to give higher priority to its diagnosis and management. One of the main causes of nasal obstruction in children is the presence of nasal masses, which cause considerable diagnostic uncertainty in the medical team, because of their multiple etiologies. In this article, the case of a 10-month-old patient with a rapidly growing mass in the nasal ala is presented. A rhabdomyosarcoma was promptly diagnosed and adequately managed. Rhabdomyosarcoma with an alveolar pattern occurs in an unusual way in this location; for this reason, this case is important in order to include this possibility in the diagnostic algorithm and, as was the case in this patient, reach an early diagnosis and institute adequate treatment resulting in favorable aesthetic and functional results.

Gran tumor cardiaco de cavidades derechas con infiltración pulmonar en una mujer joven / Large right-cavity cardiac tumor with pulmonary infiltration in a young woman

Introducción: El diagnóstico diferencial de una masa intracavitaria incluye las variantes normales, los trombos, las vegetaciones y las neoplasias. Los tumores cardíacos primarios son poco frecuentes, con una incidencia que varía del 0,0017 por ciento al 0,28 por ciento y las metástasis aparecen entre el 1,5 por ciento al 20,6 por ciento de las necropsias de los enfermos neoplásicos. Objetivo: Presentar una paciente con masa en ventrículo derecho y vértice pulmonar derecho, con diagnóstico de rabdomiosarcoma cardíaco con metástasis pulmonar. Caso clínico: Paciente femenina de 46 años sin enfermedad previa ni hábitos tóxicos, que ingresa en el servicio de Medicina Interna del Hospital Militar Dr. Carlos J. Finlay, por falta de aire y síntomas dispépticos. Evoluciona de forma tórpida en 48 días, con progresión de la disnea, asociada a hipotensión y taquicardia. Hubo una sospecha inicial de tromboeembolismo pulmonar y luego de enfermedad neoplásica, intracavitaria o pulmonar. Conclusiones: El rabdomiosarcoma cardíaco es poco frecuente y se caracteriza por su crecimiento rápido que conduce a la muerte en semanas o meses, a partir del momento de su presentación clínica(AU)

Introduction: The differential diagnosis of an intracavitary mass includes normal variants, thrombi, vegetations and neoplasms. Primary cardiac tumors are rare, with an incidence ranging from 0.0017 percent to 0.28 percent and metastases appear in 1.5 percent to 20.6 percent of necropsies in neoplastic patients. Objective: To present a patient with a right ventricular and right lung apex mass diagnosed with cardiac rhabdomyosarcoma with pulmonary metastases. Clinical case: A 46-year-old female patient with no previous illness or toxic habits was admitted to the Internal Medicine Service of Military Hospital Dr. Carlos J. Finlay due to lack of air and dyspeptic symptoms. Torpid evolution in 48 days with progression of dyspnea associated with hypotension and tachycardia. Initial suspicion of pulmonary thromboeembolism and then neoplastic, intracavitary or pulmonary disease. Conclusions: Cardiac rhabdomyosarcoma is rare and characterized by rapid growth leading to death within weeks or months from the time of clinical presentation(AU)

Primary biatrial cardiac Rhabdomyosarcoma

Abstract Primary malignant neoplasms of the heart are rare. Cardiac rhabdomyosarcoma is the second most common primary sarcoma. We report a rare case of a 49-year-old woman with a huge biatrial cardiac rhabdomyosarcoma treated by performing surgical resection followed by salvage chemotherapy for local recurrence. Cardiac sarcoma that occupy both atria are extremely rare. Although the prognosis of cardiac rhabdomyosarcoma is dismal, surgical resection should be recommended as a first line therapy to clarify the diagnosis and to relieve symptoms associated with the tumor.

Sarcomas de partes blandas en pacientes menores de 2 años. Serie de casos / Soft tissue sarcomas in infants. Case series

Los sarcomas de partes blandas en menores de 2 años son infrecuentes. Durante 2007-2017, 445 pacientes con sarcomas de partes blandas fueron tratados en nuestra Institución; 6 (el 0,5 %) eran menores de 2 años. Se analizaron los resultados clínicos y oncológicos en este grupo. La edad media de diagnóstico fue 15 meses. Cuatro eran varones y 2, mujeres. El seguimiento promedio fue 29 meses. El fibrosarcoma (n = 4) fue la variedad más frecuente. Cinco fueron tratados con cirugía de conservación del miembro; al restante se le realizó amputación. Todos realizaron tratamiento adyuvante con quimioterapia. La supervivencia a 24 meses fue del 100 %. Dos pacientes presentaron recidiva local; ambos casos, antes de los 24 meses.El tratamiento quirúrgico asociado a la quimioterapia impresiona ser la mejor opción terapéutica. La proporción de recurrencia local es alta para este grupo de pacientes luego de la cirugía de conservación del miembro.

Soft tissue sarcomas in children under 2 years of age are infrequent. During 2007-2017, a total of 445 patients diagnosed with soft tissue sarcomas were treated at our institution, 6 (0.5 %) were under 2 years. We analysed clinical and oncologic outcomes in this select group. The mean age of diagnosis was 15 months. Four patients were male and 2 female. The mean follow-up time was 29 months. Fibrosarcoma (n = 4) was the most frequent diagnosis. Five patients were treated with limb salvage surgery, and the remaining one had to undergo amputation. All patients received adjuvant treatment with chemotherapy. The 24-month survival rate was 100 %. Two patients presented a local recurrence before 24-months follow-up. Surgical treatment associated with chemotherapy seems to be the best therapeutic option. Local recurrence rate after limb salvage surgery is high for this group of patients

Cervical Infantile Fibrosarcoma: a rare cause of paediatric parapharyngeal neck mass

Soft tissue tumors are not uncommon in childhood and comprise entities that range from common to very rare malignancies. Infantile fibrosarcoma (IFS) is a rare pediatric malignancy mainly seen in the first two years of life. The data about the incidence of infantile fibrosarcoma occurring in the neck in the Indian subcontinent is scarce. To the best of our knowledge, only one case of infant cervical IFS has been reported previously in the Indian subcontinent. We present another case of an eight-year-old male patient with a rapidly growing mass on the left side of the neck. He was successfully treated with a combined modality of surgery and chemotherapy with a good outcome. Among the soft tissue tumors of childhood, IFS is a rare entity. It has a good prognosis and lesser chance of distant metastasis as compared to adult fibrosarcoma. Though surgical excision is the mainstay of treatment, chemotherapy also has a significant role in the treatment of primary tumor and metastasis. We discuss the stated case to bring to the notice this uncommon cause, which can be considered as a differential diagnosis of upper cervical swellings. A better understanding of this entity would help in early diagnosis and aggressive treatment, reducing the overall morbidity and mortality.

Clinical, pathological and therapeutic findings on lingual rhabdomyosarcoma in a dog - case report / Achados clínicos, patológicos e terapêuticos do rabdomiossarcoma em cão - relato de caso

The biological behaviour of the tumours vary according to the species in which they occur, its location within the cavity, clinical stage and histopathological nature. Lingual neoplasms are generally uncommon in companion animals. Rhabdomyosarcomas are malignant, solid, aggressive formations with high metastatic potential. The clinical signs are variable and a definitive diagnosis can only be reached through histopathological analysis of biopsy and necropsy specimen. In some cases, immunohistochemical study may be needed to confirm the diagnosis. This paper aims to highlight important points about this uncommon condition in dogs, using a case report of lingual rhabdomyosarcoma, which showed no evidence of metastasis after diagnosis, nor of local recurrence after surgical excision with a wide safety margin. It was concluded that early diagnosis, the correct interpretation of the complementary tests and the appropriate therapeutic approach contributed to improving the quality of life and survival of the patient in question.(AU)

O comportamento biológico dos tumores varia de acordo com a espécie animal, a localização na cavidade, a fase clínica e a natureza histopatológica. As neoplasias orais são geralmente incomuns em animais de companhia. Os rabdomiossarcomas são formações malignas, sólidas e agressivas, com alto potencial metastático. Os sinais clínicos são variáveis e o diagnóstico definitivo só pode ser alcançado por meio da análise histopatológica do material colhido. Em alguns casos, o estudo imuno-histoquímico pode ser necessário para confirmar o diagnóstico. Este trabalho tem como objetivo destacar pontos importantes sobre essa condição incomum em cães, utilizando um relato de caso de rabdomiossarcoma lingual, no qual não se evidenciaram metástases após o diagnóstico, nem recorrência local após a excisão cirúrgica com ampla margem de segurança. Concluiu-se que o diagnóstico precoce, a correta interpretação dos exames complementares e a abordagem terapêutica adequada contribuíram para melhorar a qualidade de vida e a sobrevida do paciente em questão.(AU)

Dentomaxillofacial sequelae resulting from a chemoradiotherapy against rhabdomyosarcoma: 6-year follow-up

Introduction: Rhabdomyosarcoma is an aggressive malignant soft tissue neoplasm of immature mesenchymal cells treated with surgery and chemoradiotherapy. The effects of chemoradiotherapy in head induce a series of sequelae on oral cavity and growth development. Objectives: Report the case of a child undergoing treatment for rhabdomyosarcoma whose effects on the dento-maxillofacial development were cared for in order to safe guard the patient's quality of life. Case report: Describes a case of severe dento-maxillofacial defects resulting from chemoradiation therapy for embryonal rhabdomyosarcoma in a child as well as the dental management performed. Clinically, the patient had gingivitis, severe mobility of permanent teeth, hyposalivation, mucositis and severe trismus. The radiologic exams showed interruption of root formation of all permanent teeth and over-retention of primary teeth. Cephalometric analyses revealed mandibular and maxillary hypoplasia. Results: Was made extraction of the overretained primary teeth associated with a prophylactic program and use of artificial saliva due to hyposalivation in order to improve the quality of life of the patient. After 6 years of dental and phonoaudiologic follow-up her oral opening has increased and chewing and swallowing difficulties have decreased, there is no gingivitis or mucositis and she has remained free of recurrent or metastatic diseases 11 years after the initial diagnosis. Conclusion: Our report emphasizes the importance of dental treatment with a program of prevention and follow-up for patients undergoing anticancer therapies.

Introdução: O rabdomiossarcoma é uma neoplasia maligna agressiva de tecido mole de células mesenquimais imaturas tratadas com cirurgia e quimioradioterapia. Os efeitos da quimioradioterapia na cabeça induzem uma série de sequelas na cavidade oral e no desenvolvimento do crescimento. Objetivo: Relatar o caso de uma criança em tratamento de rabdomiossarcoma cujos efeitos no desenvolvimento dento-maxilofacial foram cuidados a fim de salvaguardar a qualidade de vida do paciente. Relato de caso: Descreve um caso de defeitos dento-maxilo-faciais graves resultante de quimioradioterapia para rabdomiossarcoma embrionário em uma criança, bem como o manejo realizado. Clinicamente, a paciente apresentava gengivite, severa mobilidade dos dentes permanentes, hipossalivação, mucosite e trismo severo. Os exames radiográficos mostraram interrupção da formação radicular de todos os dentes permanentes e retenção dos dentes decíduos. Análises cefalométricas revelaram hipoplasia mandibular e maxilar. Resultados: Foi realizada a extração dos dentes decíduos retidos associado a um programa profilático e uso de saliva artificial devido à hipossalivação, a fim de melhorar a qualidade de vida do paciente. Após 6 anos de acompanhamento odontológico e fonoaudiológico, sua abertura bucal aumentou e as dificuldades de mastigação e deglutição diminuíram, não há gengivite ou mucosite e ela permaneceu livre de doenças recorrentes ou metastáticas 11 anos após o diagnóstico inicial. Conclusão: Nosso relato enfatiza a importância do tratamento odontológico com um programa de prevenção e acompanhamento para pacientes submetidos a terapias antineoplásicas.

High grade adenosarcoma of endocervix and endometrial cavity with a heterologous component of rhabdomyosarcoma. Case report and review of the literature / Adenosarcoma de alto grado de endocérvix y cavidad endometrial con componente heterólogo de rabdomiosarcoma. reporte de caso y revisión de la literatura

RESUMEN Objetivo: presentar el caso de una paciente con diagnóstico de adenosarcoma de alto grado de endocérvix y de cavidad endometrial, con componente heterólogo, y hacer una revisión de la literatura con especial atención al diagnóstico y manejo terapéutico de esa patología. Materiales y métodos: Se presenta el caso de una paciente de 31 años, que consulta al Hospital Universitario Virgen Macarena de Sevilla, institución regional de tercer nivel, por presentar san grado genital originado por una masa polipoidea endocervical que se llevó a biopsia con resultado de un leiomiosarcoma poco diferenciado de alto grado de endocérvix. Posteriormente fue llevada a histerectomía total abdominal. En el estudio de la pieza quirúrgica el resultado fue: adenosarcoma de endocérvix y cavidad endometrial, con componente heterólogo de rabdomiosarcoma. Con los términos: "adenosarcoma", "endocervical", "cérvix", "uterus", "heterologous", en las bases de datos Medline vía PubMed se realizó una búsqueda de artículos de revisión bibliográfica, reportes y series de casos clínicos que describían aspectos del adenosarcoma cervicouterino y del componente heterólogo de rabdomiosarcoma, en inglés y español, publicados desde 1974. Resultados: se hallaron seis artículos correspondientes a revisiones de la literatura, reportes o series de casos, donde se describen los aspectos más importantes referentes al diagnóstico y tratamiento de esta patología. Conclusiones: esta patología se caracteriza, en ocasiones, por un crecimiento rápido y agresivo, donde es importante el diagnóstico precoz y el tratamiento óptimo, basado en una combinación de cirugía, radioterapia y quimioterapia, aunque dada su baja prevalencia se necesitan aún más estudios para poder confirmar estos datos.

ABSTRACT Objective: To present the case of a patient diagnosed with high grade adenosarcoma of the endocervix and the endometrial cavity, with a heterologous component, and to conduct a review of the literature focusing on the diagnosis and therapeutic management of this disease condition. Materials and methods: We present the case of a 31-year-old female patient who came to Virgen Macarena University Hospital of Seville, a Level III regional institution, complaining of genital bleeding arising from an endocervical polypoid mass. The biopsy of the mass revealed a high grade, poorly differentiated leiomyosarcoma of the endocervix. The patient was taken later to total abdominal hysterectomy. The study of the surgical specimen provided the following result: adenosarcoma of the endocervix and endometrial cavity with a heterologous rhabdomyosarcoma component. A search was conducted in the Medline database via Pubmed using the terms "adenosarcoma," "endocervical," "cervix," "uterus," "heterologous." The search included literature review articles, case reports and clinical case series describing aspects of cervical adenosarcoma and the heterologous rhabdomyosarcoma component, published in English and Spanish since 1974. Results: Six articles corresponding to literature reviews, case reports or case series in which the most relevant aspects of the diagnosis and treatment of this disease condition are described were retrieved. Conclusions: This condition is characterized, on occasions, by rapid and aggressive growth, hence the importance of early diagnosis and optimal treatment based on a combination of surgery, radiation therapy and chemotherapy. However, due to its low prevalence, further studies are needed in order to confirm these data.

Transformación de teratoma en rabdomiosarcoma / Transformation of teratoma in rabdomiosarcoma

Los teratomas son tumores germinales malignos compuestos por dos o más capas de tejido, que ocasionalmente se transforman en estirpes con crecimiento agresivo. Se presenta el caso de un paciente de 29 años con un tumor germinal gonadal localizado en testículo, cuya evolución fue desfavorable por presentar transformación en un fenotipo correspondiente a un rabdomiosarcoma. La patología aquí descripta deviene del crecimiento diferencial de un componente ya existente en el tumor original o la transformación en un linaje somático que se hace dominante. Los tumores transformados como el del caso descripto son raros y presentan características diferentes de la mayoría de las neoplasias germinales respecto del comportamiento, el pronóstico y la sensibilidad a los tratamientos establecidos.

Teratomas are malign germ cell tumors composed of two or more tissue layers. When there is specific organ differentiation they are called mature teratoma. They rarely grow aggressively. We report the case of a 29 year-old man with a diagnosis of gonadal germ cell tumor whose evolution was unfavorable owing to transformation into a different phenotype corresponding to a rhabdomyosarcoma. This phenomenon occurs through differential growth of a single histological component of the original tumor or transformation of a somatic lineage that becomes dominant. Transformed tumors such as the one herein described differ from most germ cell neoplasms regarding behavior, prognosis, and susceptibility to established treatments.

Rabdomiosarcoma botrioide del aparato genital femenino en una adolescente virgen / Botryoid Rhabdomyosarcoma of the Female Genital Tract in a Virgin Adolescent

El rabdomiosarcoma es un tumor complejo y de gran malignidad que se origina en las células de la mesénquima embrionaria con capacidad para diferenciarse en células musculares esqueléticas. Este es el tumor maligno de tejido blando más frecuente. Representa aproximadamente 3,5 por ciento de los casos de cáncer en niños de 0 a 14 años de edad. Se presenta una paciente adolescente y virgen en la que se diagnostica histológicamente rabdomiosarcoma botrioide de la vagina. La presentación clínica del rabdomiosarcoma embrionario variedad botrioide es, en general, una masa que protruye por la uretra o el introito vaginal, o por la presencia de flujo fétido o sangrado vaginal en niñas menores de 2 años. En estas lesiones el apoyo diagnóstico con inmunohistoquímica es de vital importancia. El pronóstico de esta enfermedad está determinado por variables como el tamaño tumoral, órgano comprometido, edad del paciente, resultado quirúrgico (R0/R1) y presencia de metástasis. La evaluación médica multidisciplinaria precoz y oportuna permitirá siempre establecer un diagnóstico y tratamiento adecuados(AU)

Rhabdomyosarcoma is a complex and highly malignant tumor that originates in the cells of the embryonic mesenchyme with the ability to differentiate into skeletal muscle cells. This is the most common malignant soft tissue tumor. It represents approximately 3.5 percent of cancer cases in children from zero to 14 years of age. A case of a virgin adolescent patient is presented. A botryoid rhabdomyosarcoma of the vagina was diagnosed histologically. The clinical presentation of embryonic botryoid rhabdomyosarcoma variety is, in general, a mass that protrudes through the urethra or vaginal introitus, or the presence of fetid flow or vaginal bleeding in girls under 2 years. In these lesions, diagnostic support with immunohistochemistry is of vital importance. The prognosis of this disease is determined by variables such as tumor size, compromised organ, age of the patient, surgical result (R0 / R1) and presence of metastasis. Early and timely multidisciplinary medical evaluation will always allow an adequate diagnosis and treatment to be established(AU)

Tumores nasales congénitos de la linea media / Congenital nasal tumors of the midline in ENT

Las masas nasales congénitas de la línea media se presentan con una frecuencia muy baja ­1/20.000 a 1/40.000 nacidos vivos­. Se trata de hallazgos asintomáticos en el recién nacido y son resultado de anomalías congénitas del desarrollo embrionario, que suelen aparecer como masas en la línea media nasal en un punto cualquiera entre glabela y columela. Estas tumoraciones presentan un riesgo elevado de extensión al sistema nervioso central, lo que es especialmente importante tener en cuenta para prevenir consecuencias tales como la fístula de líquido cefalorraquídeo y/o la aparición de meningitis recidivante. Existen gran cantidad de tumores nasales de la línea media que aparecen en el recién nacido o en el lactante y que constituyen diagnósticos diferenciales de las lesiones congénitas antes descriptas. Describiremos brevemente los más frecuentes según nuestra experiencia. AU

Congenital nasal masses of the midline are very rare ­ 1/20,000 to 1/40,000 live births ­. Nasal tumors are asymptomatic findings in the neonate and are caused by congenital abnormalities during fetal development, usually appearing at the nasal midline between the glabella and columella. These tumors are associated with a high risk of extension to the central nervous system; therefore, it is especially important to prevent the development of a cerebrospinal fluid fistula and/or recurrent meningitis. There is a large number of nasal tumors of the midline in neonates or infants in the differential diagnosis of the above-described congenital lesion. Here we briefly describe the most common nasal tumors seen at our department. AU

Alterações Citogenético-Moleculares no Gene FOXO1 em uma Criança com Rabdomiossarcoma Alveolar: Relato de Caso / Citogenetic-Molecular Alterations in FOXO1 Gene in a Child with Alveolar Rhabdomyosarcoma: Case Report / Cambios Citogenetico-moleculares en el gene fOxO1 en un Niño con Rabdomiossarcoma Alveolar: Relato de Caso

Introdução: o rabdomiossarcoma (rMs) é o tumor de tecidos moles mais comum da infância. Pode ser classificado em dois subtipos principais: o rabdomiossarcoma alveolar (rMsa) e o embrionário (rMse). no rMsa, o prognóstico é desfavorável quando comparado ao rMse, necessitando de tratamento intensificado; dessa forma, a distinção entre ambos os subtipos é fundamental. citogeneticamente, o rMsa apresenta translocações cromossômicas envolvendo o gene FOXO1 em 80% dos casos. a metodologia de hibridização in situ por fluorescência (FisH) tem sido muito utilizada para caracterizar o rMsa. Relato do caso: Paciente do sexo feminino, com 7 anos de idade, apresentou ao diagnóstico rMsa parameníngeo, sem metástase ao diagnóstico. a análise por meio de FisH mostrou a translocação envolvendo o gene FOXO1 e uma cópia extra desse gene. a paciente foi incluída no protocolo de tratamento do epssG, classificada como grupo de alto risco e recebeu quimioterapia e radioterapia. no final do tratamento, foi observada resposta parcial e iniciada quimioterapia de segunda linha. não houve resposta clinicorradiológica e a paciente evoluiu com progressão de doença local refratária ao tratamento e óbito após um ano do diagnóstico. Conclusão: de acordo com o nosso conhecimento, é a primeira descrição de um caso de rMsa apresentando a translocação do gene FOXO1 e uma cópia extra desse gene em clones separados. são necessários ainda novos estudos, a fim de compreender melhor o significado prognóstico da presença dessas alterações.

Introduction:rhabdomyosarcoma (rMs) is the most common soft tissue tumor of childhood. it can be classified into two main subtypes: alveolar rhabdomyosarcoma (arMs) and embryonal (erMs). in arMs the prognosis is unfavorable when compared to erMs, requiring intensified treatment, thus the distinction between both subtypes is fundamental. cytogenetically, arMs present chromosomal translocations involving the FOXO1 gene in 80% of the cases. The fluorescence in situ hybridization methodology (FisH) has been widely used to characterize arMs subtype. Case Report: a 7-year-old female patient presented with parameningeal arMs, non-metastatic at diagnosis. FisH analysis showed translocation involving the FOXO1 gene and an extra copy of this gene. The patient was enrolled in the epssG treatment protocol, classified as a high-risk group and received chemotherapy and radiotherapy. at the end of treatment a partial response was observed, and second line chemotherapy was started. There was no clinical-radiological response and the patient progressed with local disease, refractory to rescue treatment and died of disease one year after diagnosis. Conclusion:to our knowledge, this is the first case of arMs presenting FOXO1 gene translocation and an extra copy of this gene in separate clones. More studies are necessary to understand the prognostic significance of these alterations

Introducción: el rabdomiosarcoma (rMs) es el tumor de tejidos blandos más común de la infancia. el rMs puede clasificarse en dos subtipos principales, el rabdomiosarcoma alveolar (rMsa) y el embrionario (rMse). el rMsa presenta un pronóstico desfavorable si se compara al rMse, habiendo así necesidad de intensificación del tratamiento. de esta forma, la distinción entre rMsa y rMse es fundamental. citogéticamente, el rMsa presenta en cerca del 80% de los casos de translocación cromosómica que involucra el gen FOXO1. la metodología de Hibridación fluorescente in situ (FisH) ha sido muy utilizada para caracterizar el rMsa. Caso de estudio: Paciente del sexo femenino, de 7 años de edad presentada con un diagnóstico de rMsa parameningeo, sin metástasis. el análisis a través del FisH mostró la translocación envolviendo el gen FOXO1 y una copia extra de este gen. la paciente fue incluida en el protocolo de tratamiento del epssG, clasificado como grupo de alto riesgo y recibió quimioterapia y radioterapia. al final del tratamiento fue observada una respuesta parcial y se inició la quimioterapia de segunda línea. no hubo respuesta clínico-radiológica y la paciente evolucionó con progresión de enfermedad local, refractaria y óbito después de 1 año del diagnóstico. Conclusión: de acuerdo con nuestro conocimiento, este es el primer caso de un niño con rMsa presentando la translocación del gen FOXO1 y una copia extra de este gen en clones separados. se necesitan nuevos estudios para comprender mejor el significado pronóstico de la presencia de estos cambios.

Laryngeal Rhabdomyosarcoma in a dog: case report / Rabdomiossarcoma na laringe em cão: relato de caso

The larynx is part of the upper respiratory tract and is responsible for phonation. It allows air to pass between the pharynx and the trachea, but prevents food from entering the airways. Laryngeal neoplasms, including rhabdomyosarcomas, are uncommon in dogs. However, these tumors can trigger numerous progressive clinical signs related to respiratory difficulty and altered phonation. The diagnosis of laryngeal cancer should be made based on the history and symptoms of the patient, combined with complementary tests. The treatment of choice is surgical excision, combined or not with chemotherapy. In view of the low incidence of laryngeal cancer, the objective of the present work was to describe a case of laryngeal rhabdomyosarcoma detected during necropsy of an adult dog and diagnosed by histopathology, in addition to raising awareness about the importance of the diagnosis and early therapy for the quality of life and survival of affected patients. The results showed that the location of the tumor impaired its early diagnosis. Although malignant, the animal did not develop metastases as has been described in the literature.(AU)

A laringe é um dos órgãos que compõem o trato respiratório superior, sendo também responsável pela fonação. Permite a passagem do ar entre a faringe e traqueia, mas impede que alimentos adentrem as vias aéreas. As neoplasias laringeanas, incluindo os rabdomiossarcomas, são incomuns em cães, porém, quando presentes, desencadeiam inúmeros sinais clínicos progressivos relacionados à dificuldade respiratória e à alteração na fonação. O diagnóstico das neoplasias na laringe deve ser baseado no histórico e na sintomatologia do paciente, associado a exames complementares. O tratamento de eleição é a exérese cirúrgica, concomitante ou não com a quimioterapia. Desse modo, diante da baixa incidência desse tipo neoplásico, inclusive na laringe, o objetivo do atual trabalho é descrever o caso de rabdomiossarcoma em laringe, detectado durante o exame de necropsia de um cão adulto e diagnosticado por histopatologia, bem como conscientizar sobre a importância do diagnóstico e da terapêutica precoce na qualidade de vida e sobrevida dos afetados. De acordo com a descrição do caso, pode-se admitir que a localização da neoplasia prejudicou o diagnóstico precoce e que, apesar de esta ser maligna, não houve metástases conforme descrição na literatura.(AU)

Malignant fibrous histiocytoma in a patient presenting with urinary system symptoms

Summary Malignant fibrous histiocytoma is a rare tumor. It is most commonly seen in individuals between the fifth and seventh decades of life, in extremities, and less frequently in the retroperitoneum. Although its etiology is not clearly known, radiotherapy, chemical agents, previous history of surgery, trauma and fracture, and Hodgkin lymphoma have been blamed. Leiomyosarcoma, liposarcoma and rhabdomyosarcoma should be taken into account in differential diagnosis. It is seen on computed tomography as a mass lesion with irregular borders and density similar to that of the surrounding muscle tissue. Necrotic and hemorrhagic components in the mass are characterized as heterogeneous low density areas. Fluid-fluid levels can be detected by computed tomography and magnetic resonance imaging.

Malformación adenomatoidea quística y riesgo de tumores malignos pulmonares / Adenomatoid lung malformation and malignant tumors

Cystic adenomatoid malformation is the most frequent congenital pulmonary malformation. The usual treatment is surgical resection. However there is controversy over management in asymptomatic patients. The possible malignization would justify surgery of cystic lesions. Relation with pleuropulmonary blastoma has been described, however it is not clear whether this is a primary tumor or cyst malignization. Cystic adenomatoid malformation also has association with adenocarcinoma and rhabdomyosarcoma. Currently available evidence suggests surgical resection, despite the natural course of congenital lung cystic lesions is uncertain

La malformación adenomatoidea quística (MAQ) es la anomalía del desarrollo pulmonar más frecuente. El tratamiento habitual es la resección quirúrgica, no obstante existe controversia sobre el manejo en pacientes asintomáticos. La posible malignización de las lesiones quísticas es uno de los argumentos que justifican la cirugía en estos pacientes. Se ha descrito relación con blastoma pleuropulmonar, sin embargo no está claro si se trataría de una lesión quística que se maligniza o es una entidad diferente. También hay asociación con adenocarcinoma y rabdomiosarcoma . Actualmente se sugiere la resección quirúrgica como el tratamiento más adecuado, sin embargo la evolución natural de las lesiones quísticas pulmonares congénitas es incierta

Antiviral activity of shikonin ester derivative PMM-034 against enterovirus 71 in vitro

Human enterovirus 71 (EV71) is the major causative agent of hand, foot, and mouth disease (HFMD), particularly in infants and children below 4 years of age. Shikonin is a bioactive compound with anti-inflammatory, antiviral, and antibacterial activities derived from the roots of the Chinese medicinal herb Lithospermum erythrorhizon. This study aimed to examine the antiviral activity of PMM-034, a shikonin ester derivative, against EV71 in rhabdomyosarcoma (RD) cells. Cytotoxicity of PMM-034 on RD cells was determined using WST-1 assay. Dose- and time-dependent effects of PMM-034 on EV71 replication in RD cells were determined using plaque reduction assay. mRNA expression levels of EV71/VP1 and pro-inflammatory cytokines (IL-1β, IL-6, IL-8, and TNF-α) were determined by real-time RT-PCR, and EV71/VP1 and phospho-p65 protein expressions were determined by western blot analysis. PMM-034 exhibited only weak cytotoxicity against RD cells. However, PMM-034 exhibited significant antiviral activity against EV71 in RD cells with 50% inhibitory concentration of 2.31 μg/mL. The VP1 mRNA and protein levels were significantly reduced in cells treated with PMM-034. Furthermore, relative mRNA expression levels of IL-1β, IL-6, IL-8, and TNF-α significantly decreased in the cells treated with PMM-034, while the phospho-p65 protein expression was also significantly lower in the treated cells. These results indicated that PMM-034 suppressed the expressions of pro-inflammatory cytokines in RD cells, exhibiting antiviral activity against EV71, as evidenced by the reduced VP1 mRNA and protein levels in PMM-034-treated cells. Thus, PMM-034 is a promising candidate for further development as an EV71 inhibitor.

Rabdomiosarcoma botrioide del aparato genital femenino en paciente adolescente virgen / Botryoid rhabdomyosarcoma of the female genital apparatus in a virgin adolescent

El rabdomiosarcoma es un tumor complejo y de gran malignidad que se origina en las células del mesénquima embrionario con capacidad para diferenciarse en células musculares esqueléticas. Este es el tumor maligno de tejido blando más frecuente. Representa aproximadamente 3,5 por ciento de los casos de cáncer en niños de 0 a 14 años de edad. La presentación clínica del rabdomiosarcoma embrionario variedad botrioides es, en general, una masa que protruye por la uretra o el introito vaginal, o por la presencia de flujo fétido o sangrado vaginal en niñas menores de 2 años. Se presenta el caso de un rabdomiosarcoma botrioides de la vagina diagnosticado es una paciente de 16 años y virgen. El apoyo diagnóstico con inmunohistoquímica es de vital importancia y la evaluación médica multidisciplinaria precoz y oportuna permitirá siempre establecer un diagnóstico y tratamiento adecuados que mejoren el pronóstico de quienes padecen esta enfermedad(AU)

Rhabdomyosarcoma is a complex tumor of great malignity that originates in the embryonary mesenchymal cells with the capacity of differentiating into skeletal muscle cells. This is the most frequent malignant tumor in the soft tissue. It roughly represents 3.5 percent of cancer in children aged 0 to 14 years. Generally, the clinical presentation of botryoid-type embryonary rhabdomyosarcoma is a mass that protrudes from the urethra or the vaginal introit or the presence of fetid fluid or vaginal bleeding in girls under 2 years-old. This is the case of a 16 years-old virgin female patient diagnosed with botryoid rhabdomyosarcoma of the vagina. The diagnostic support with immunohistochemistry is of vital importance in addition to the early and timely multidisciplinary medical assessment for setting adequate diagnosis and treatment that improve the prognosis of persons suffering this disease(AU)