Rabdomiossarcoma de ovário em paciente jovem: Relato de caso / Ovarian rhabdomyosarcoma in a young patient: report of case

O sarcoma de partes moles mais comum na infância é o rabdomiossarcoma. Entretanto a localização ovariana é extremamente rara. Acredita-se que este tumor se origina de células imaturas destinadas a compor o músculo esquelético, porém pode surgir em locais onde tipicamente não há músculo esquelético. O diagnóstico do Rabdomiossarcoma primário de ovário pode causar um dilema entre os clínicos, cirurgiões e patologistas, por se tratar de um tumor muito raro. Após o diagnóstico, é necessária a investigação de possíveis metástases. Este caso trata de uma paciente de 17 anos, submetida a parto cesáreo e, no intraoperatório, foi observado aumento de volume, inespecífico, de ovário direito sendo optado por não abordar naquele momento. De antecedentes pessoais, apresentava ooforectomia esquerda aos 13 anos, por Tumor de células da granulosa juvenil e lobectomia inferior esquerda por malformação adenomatosa cística aos 7 anos. Deu entrada no Pronto Socorro 17 dias após dar à luz com queixa de febre, vômitos e dor abdominal. Foi realizada ultrassonografia de urgência, onde foi visualizada massa sólida em fossa ilíaca direita medindo 14,0 x 11,2 x 10,8 cm. Realizada laparotomia exploradora com anexectomia direita e cito-redução subótima do tumor. O resultado anátomo-patológico demonstrou neoplasia maligna fusocelular com áreas de necrose em ovário. A complementação com o estudo imunohistoquímico concluiu rabdomiossarcoma embrionário. Ela voltou a procurar atendimento no Pronto Socorro dois meses após a abordagem com queixa de vômitos biliosos e epigastralgia. Realizou tomografia computadorizada que identificou recidiva do tumor. Durante a internação, evoluiu com quadro de tromboembolismo pulmonar agudo. Diante disso, foi iniciada terapia com enoxaparina em dose plena e quimioterapia com esquema VAC (Vincristina, Doxorrubicina e Ciclofosfamida). Entretanto, ela apresentou insuficiência de múltiplos órgãos, que culminou com o óbito da paciente. O curso clínico desse caso mostra a rápida progressão e letalidade dessa neoplasia. Além da histopatologia, a idade, o tamanho do tumor, a ressecabilidade, o subtipo histopatológico, a presença de metástase no momento do diagnóstico e a invasão linfonodal influenciam no curso clínico da doença. Palavras-chave: Neoplasias ovarianas. Rabdomiossarcoma. Ovário.

[Embryonal botryoid rhabdomyosarcoma of the uterus]. / Rabdomiosarcoma embrionario botrioide de útero.

Rhabdomyosarcoma is a malignant neoplasm of mesenchymal origin with skeletal striated muscular differentiation. It is the most common sarcoma of childhood and has four subtypes: embryonal, alveolar, pleomorphic and spindle cell/sclerosing. Of all of them, the embryonal one is the most prevalent and presents a variant, botryoid, which usually involves hollow organs in the form of a multilobed polypoid mass. We present the case of a 27-year-old woman who consulted for vaginal bleeding and in whom colposcopy revealed a whitish polypoid lesion that was externalized through the external cervical os. Histological examination revealed cellular sectors alternated by lax, myxoid areas, together with typical isthmic-endometrial glands. The atypical spindle cell proliferation was arranged in nests, made up of ce lls with large eosinophilic cytoplasm with transverse cytoplasmic striations and eccentric nuclei with homogeneous chromatin. Areas of densely packed cells were exhibited immediately, but separated from, the intact epithelial lining by a thin layer of loose stroma (cambium layer). The immunostaining profile was positive for desmin, muscle-specific actin and myogenin, and negative for smooth muscle actin. A diagnosis of embryonal botryoid rhabdomyosarcoma of the uterine corpus was made.

El rabdomiosarcoma es una neoplasia maligna de origen mesenquimal con diferenciación muscular estriada esquelética. Es el sarcoma más común de la infancia y presenta cuatro subtipos: embrionario, alveolar, pleomórfico y de células ahusadas/esclerosante. De todos ellos el embrionario es el de mayor prevalencia y presenta una variante, botrioide, que suele comprometer órganos huecos en forma de una masa polipoide multilobulada. Presentamos el caso de una mujer de 27 años que consultó por sangrado vaginal y en quien se evidenció en la colposcopia, una lesión polipoide blanquecina que se exteriorizaba a través del orificio cervical externo. El estudio histológico reveló sectores celulares alternados por áreas laxas, mixoides, junto a glándulas ístmico-endometriales típicas. La proliferación fusocelular atípica, se disponía en nidos, constituidos por células de amplio citoplasma eosinófilo con estriaciones citoplasmáticas transversales y núcleos excéntricos con cromatina homogénea. Se exhibían áreas de células densamente condensadas inmediatas y próximas al revestimiento epitelial intacto, pero separadas de él, por una fina capa de estroma laxo (capa cambial). El perfil de inmunomarcación resultó positivo para desmina, actina músculo específico y miogenina, y negativo para actina músculo liso. Se realizó diagnóstico de rabdomiosarcoma embrionario botroide de cuerpo uterino.

Rabdomiosarcoma laríngeo en un adulto, descripción de un caso y revisión de la literatura / Adult laryngeal rhabdomyosarcoma. Case report and literature review

Resumen El rabdomiosarcoma laríngeo es un cáncer infrecuente en cabeza y cuello, y aún más en adultos. Describimos el caso de un varón de 55 años con un rabdomiosarcoma del músculo cricoaritenoideo posterior izquierdo tratado mediante laringectomía total y linfadenectomía funcional bilateral.

Abstract Laryngeal rhabdomyosarcoma is an uncommon cancer in head and neck, especially in adults. We report a 55 years old male with a rhabdomyosarcoma from the left posterior cricoarytenoid muscle treated with a total laryngectomy and double functional cervical lymphadenectomy.

Bacteremia due to Weeksella virosa in a pediatric patient with embryonal rhabdomyosarcoma.

Background: Weeksella virosa is one of the two species of the genus Weeksella. Clinical disease due to this bacterium in humans is rare, for which only nine cases have been reported in the literature. Case report: A 4-year-old male patient was diagnosed with a left orbit rhabdomyosarcoma Stage III and was admitted to a northeast third level referral center in Mexico. Aerobic, non-pigmented, Gram-negative rod was isolated from a blood culture. W. virosa was identified by Sensititre™ ARIS. This organism has been described in cases of spontaneous bacterial peritonitis, sepsis, pneumonia, ventriculitis, and urinary tract infection. Conclusions: Clinicians should consider the diagnosis of W. virosa bacteremia in cases involving immunocompromised patients with oral lesions, although it is infrequent. To the best of our knowledge, this is the first clinical report of W. virosa bacteremia described in an immunocompromised pediatric patient.

Introducción: Weeksella virosa es una de las dos especies del género Weeksella. En los humanos, los reportes de infección por este microorganismo son raros. Solo se han reportado nueve casos en la literatura. Caso clínico: Paciente masculino de 4 años con diagnóstico de rabdomiosarcoma embrionario de órbita izquierda en estadio III, que fue atendido en un hospital de tercer nivel en el noreste de México. Se realizó un hemocultivo, a partir del cual se aisló un bacilo gramnegativo aerobio, no pigmentado. Se identificó W. virosa mediante Sensititre™ ARIS. Este microorganismo ha sido descrito en casos de peritonitis bacteriana espontánea, sepsis, neumonía, ventriculitis e infección del tracto urinario. Conclusiones: Aunque los casos de bacteriemia por W. virosa son raros, los clínicos deben considerar este agente en pacientes inmunocomprometidos con lesiones orales. Hasta donde se conoce, este es el primer caso que se describe de bacteriemia por W. virosa en un paciente pediátrico inmunocomprometido.

Bacteremia due to Weeksella virosa in a pediatric patient with embryonal rhabdomyosarcoma / Bacteriemia por Weeksella virosa en un paciente pediátrico con rabdomiosarcoma embrionario

Abstract Background: Weeksella virosa is one of the two species of the genus Weeksella. Clinical disease due to this bacterium in humans is rare, for which only nine cases have been reported in the literature. Case report: A 4-year-old male patient was diagnosed with a left orbit rhabdomyosarcoma Stage III and was admitted to a northeast third level referral center in Mexico. Aerobic, non-pigmented, Gram-negative rod was isolated from a blood culture. W. virosa was identified by Sensititre™ ARIS. This organism has been described in cases of spontaneous bacterial peritonitis, sepsis, pneumonia, ventriculitis, and urinary tract infection. Conclusions: Clinicians should consider the diagnosis of W. virosa bacteremia in cases involving immunocompromised patients with oral lesions, although it is infrequent. To the best of our knowledge, this is the first clinical report of W. virosa bacteremia described in an immunocompromised pediatric patient.

Resumen Introducción: Weeksella virosa es una de las dos especies del género Weeksella. En los humanos, los reportes de infección por este microorganismo son raros. Solo se han reportado nueve casos en la literatura. Caso clínico: Paciente masculino de 4 años con diagnóstico de rabdomiosarcoma embrionario de órbita izquierda en estadio III, que fue atendido en un hospital de tercer nivel en el noreste de México. Se realizó un hemocultivo, a partir del cual se aisló un bacilo gramnegativo aerobio, no pigmentado. Se identificó W. virosa mediante Sensititre™ ARIS. Este microorganismo ha sido descrito en casos de peritonitis bacteriana espontánea, sepsis, neumonía, ventriculitis e infección del tracto urinario. Conclusiones: Aunque los casos de bacteriemia por W. virosa son raros, los clínicos deben considerar este agente en pacientes inmunocomprometidos con lesiones orales. Hasta donde se conoce, este es el primer caso que se describe de bacteriemia por W. virosa en un paciente pediátrico inmunocomprometido.

Rabdomiosarcoma embrionario de cérvix uterino en mujer adulta / Embryonal rhabdomyosarcoma of uterine cervix in adult female

El rabdomiosarcoma (RMS) del tracto genital inferior es una patología maligna relativamente frecuente en la infancia aunque muy poco prevalente en la edad adulta. Tan solo suponen el 2-4 por ciento de todos los sarcomas de partes blandas. Se trata de una neoplasia derivada de células progenitoras de miocitos de músculo estriado en distinto grado de diferenciación. En un elevado número de casos, el cuadro se presenta como un pólipo endocervical de apariencia benigna, lo cual retrasa el diagnóstico. El correcto manejo del RMS de tracto genital es controvertido. Un esquema agresivo de tratamiento con cirugía, poliquimioterapia y radioterapia en pacientes seleccionadas, ha demostrado aumentar la supervivencia e incluso conseguir la curación en estadios precoces.

Rhabdomyosarcoma (RMS) of the lower genital tract is a common childhood malignancy but a rare tumor in female adults. It accounting for around 2-4 percent of soft-tissue sarcomas. It is a malignant neoplasm originating from myogenic progenitors cells that shows variable stages of skeletal muscle differentiation. In many cases, the tumor appears as a benign endocervical polyp and this delays the correct diagnosis. Optimal management of adult genital tract RMS is uncertain. Aggressive primary therapy with local excition, poliche-motherapy and radiotherapy in selected patients may result in prolonged survival and cure in early stages.

Rabdomiosarcoma embrionario uterino: aspectos morfológicos e inmunohistoquímicos / Embryonal rhabdomyosarcoma of the corpus uterine: morphological and immunohistochemical characteristics

Los sarcomas uterinos son relativamente raros. El tipo histológico más frecuente es el leiomiosarcoma, seguido por el sarcoma del estroma endometrial. Los rabdomiosarcomas (RMS) son neoplasias malignas con diferenciación muscular esquelética. El rabdomiosarcoma embrionario (RMSE) tipo botrioide es el sarcoma más común de la infancia; con escasos reportes en adultos, afectando la región de cabeza y cuello, tracto genitourinario y extremidades más frecuentemente. En el tracto genitourinario, la vagina es la localización mas frecuente, comprometiendo en raras ocasiones el cuello o fondo uterino. Se presentan las características clínicas y morfológicas de un caso de RMSE uterino tipo botrioide diagnosticado en una paciente de 58 años en la Unidad de Anatomía Patológica del Hospital Hernán Henríquez Aravena de Temuco.

Uterine sarcomas are relatively rare. The most common histological type is leiomyosarcoma, followed by endometrial stromal sarcoma. The rhabdomyosarcoma (RMS) are malignant neoplasms with skeletal muscle differentiation. Embryonal rhabdomyosarcoma (RMSE) type botryoides is the most common in childhood, with few reports in adults, affecting the head and neck region, genitourinary tract and extremities more frequently. In the genitourinary tract, the vagina is the most common location, rarely involving cervix and fundus uterine. Clinical and morphological characteristics are presented of a case of uterine RMSE diagnosed in a 58 year-old woman in the Pathology Unit of the Hernán Henríquez Aravena Hospital in Temuco.

Rabdomiossarcoma embrionário metastático - relato de caso / Embryonal Rhabdomyosarcoma Metastatic - Case Report

O rabdomiossarcoma é uma neoplasia extremamente rara de cães e gatos e emerge do músculo esquelético.Apresenta características difusas e de crescimento rápido e infiltrativo. É agressivo e metastástico, egeralmente forma aglomerados similares a cachos de uvas no interior da bexiga, em geral na região dotrígono. Raramente observa-se metástase por ocasião do diagnóstico, e a morte freqüentemente ocorresecundariamente à obstrução. Como outros sarcomas há uma pequena sugestão de que o rabdomiossarcomacresce de células diferenciadas (músculos esqueléticos). O coração, a bexiga e os músculos apendicularesconstituem locais possíveis. Tipicamente, os cães têm menos de 2 anos de idade, e o São Bernardo éa raça mais freqüentemente citada. A causa e os fatores de risco dessa neoplasia são desconhecidos. Os sinaisclínicos são massas teciduais grandes e difusas geralmente de músculo esquelético, com localizaçõesno coração e laringe e pode metastatizar nos músculos primários (nódulos múltiplos). Para o tratamento éfeita excisão cirúrgica, difícil devido à capacidade invasiva do tumor. Pode ser considerada a amputaçãodo membro afetado. A radioterapia pode ser útil. O acompanhamento deve constituir em exame físico, radiografiatorácica e ultra-sonografia abdominal, mensalmente durante 3 meses e depois a cada 3-6 meses

The rhabdomyosarcoma is an extremely rare neoplasm of dogs and cats and emerges from skeletalmuscle. It has diffuse characteristics of rapid infiltrative growth. It is aggressive and metastatic, andusually forms clusters similar to bunches of grapes into the bladder, frequently in the region of trigone.Metastasis are rarely observed at diagnosis, and death often occurs secondary to obstruction. Likeother sarcomas there is a slight suggestion that the rhabdomyosarcoma grows from differentiatedcells (skeletal muscle). The heart, bladder and appendicular muscles are possible locations. Typically,dogs are under 2 years old, and St. Bernard is the breed most frequently cited. The cause and risk factorsfor this cancer are unknown. The clinical signs are large and diffuse tissue masses usually in theskeletal muscle, described with locations in the heart and larynx and can metastasize in the primarymuscles (multiple nodules). The treatment is surgical excision which is difficult because of invasivecapacity of tumor. The amputation of the affected limb can be considered. Radiation therapy may behelpful. The monitoring must be physical examination, chest radiograph and abdominal ultrasound,monthly for 3 months and then every 3-6 months

Rabdomiossarcoma embrionário metastático - relato de caso / Embryonal Rhabdomyosarcoma Metastatic - Case Report

O rabdomiossarcoma é uma neoplasia extremamente rara de cães e gatos e emerge do músculo esquelético.Apresenta características difusas e de crescimento rápido e infiltrativo. É agressivo e metastástico, egeralmente forma aglomerados similares a cachos de uvas no interior da bexiga, em geral na região dotrígono. Raramente observa-se metástase por ocasião do diagnóstico, e a morte freqüentemente ocorresecundariamente à obstrução. Como outros sarcomas há uma pequena sugestão de que o rabdomiossarcomacresce de células diferenciadas (músculos esqueléticos). O coração, a bexiga e os músculos apendicularesconstituem locais possíveis. Tipicamente, os cães têm menos de 2 anos de idade, e o São Bernardo éa raça mais freqüentemente citada. A causa e os fatores de risco dessa neoplasia são desconhecidos. Os sinaisclínicos são massas teciduais grandes e difusas geralmente de músculo esquelético, com localizaçõesno coração e laringe e pode metastatizar nos músculos primários (nódulos múltiplos). Para o tratamento éfeita excisão cirúrgica, difícil devido à capacidade invasiva do tumor. Pode ser considerada a amputaçãodo membro afetado. A radioterapia pode ser útil. O acompanhamento deve constituir em exame físico, radiografiatorácica e ultra-sonografia abdominal, mensalmente durante 3 meses e depois a cada 3-6 meses(AU)

The rhabdomyosarcoma is an extremely rare neoplasm of dogs and cats and emerges from skeletalmuscle. It has diffuse characteristics of rapid infiltrative growth. It is aggressive and metastatic, andusually forms clusters similar to bunches of grapes into the bladder, frequently in the region of trigone.Metastasis are rarely observed at diagnosis, and death often occurs secondary to obstruction. Likeother sarcomas there is a slight suggestion that the rhabdomyosarcoma grows from differentiatedcells (skeletal muscle). The heart, bladder and appendicular muscles are possible locations. Typically,dogs are under 2 years old, and St. Bernard is the breed most frequently cited. The cause and risk factorsfor this cancer are unknown. The clinical signs are large and diffuse tissue masses usually in theskeletal muscle, described with locations in the heart and larynx and can metastasize in the primarymuscles (multiple nodules). The treatment is surgical excision which is difficult because of invasivecapacity of tumor. The amputation of the affected limb can be considered. Radiation therapy may behelpful. The monitoring must be physical examination, chest radiograph and abdominal ultrasound,monthly for 3 months and then every 3-6 months(AU)

Aggressive spindle cell rhabdomyosarcoma in an 11-month-old boxer dog.

Rhabdomyosarcoma (RMS) is a malignant neoplasm derived from mesenchymal tissue with a tendency toward myogenic differentiation associated with the embryogenesis of skeletal muscle. According to the histological features, it can be classified in embryonal, botryoid, alveolar, and pleomorphic, which usually correspond to clinical behavior and prognosis. The spindle cell (SCRMS) variant is a rare subtype of the embryonal RMS and is considered to be less aggressive lesion. The aim of the present paper is to report an unusual case of SCRMS in an 11-month-old male boxer dog diagnosed as extensive SCRMS that affected the frontal region of the skull. Due to the aggressive nature of the lesion and poor clinical prognosis the dog's owners preferred euthanasia as a treatment. A full postmortem examination was carried out. Microscopically, the lesion was composed of a highly cellular proliferation of spindle cells arranged in long and intersecting fascicles. After performing the immunohistochemical studies (HHF-35, smooth muscle actin, desmin and MyoD1), the present case was diagnosed as SCRMS.

Embryonal rhabdomyosarcoma of the uterine cervix.

INTRODUCTION: Embryonal rhabdomyosarcoma (RMS) of the uterine cervix is a rare and extremely malignant entity. Generally, embryonal RMS originating in the uterine cervix is usually diagnosed in adolescence. Before the introduction of effective adjuvant chemotherapy, the prognosis of these lesions was poor. We have treated a young woman suffering from this disease using a combination of surgery, chemotherapy and radiation therapy (RT) with excellent results. The medical community should keep in mind that embryonal RMS of the uterine cervix, despite its malignancy and rarity, can be cured if adequate treatment is given. CASE: A case of a young woman aged 20, presenting with vaginal bleeding, is reported. The histological examination revealed embryonal RMS of uterine cervix. The patient was treated with a combination of surgery, chemotherapy and RT. A review in the literature, which is also presented, shows that the combined treatment of embryonal RMS using surgery and multidrug chemotherapy has significantly improved survival. CONCLUSION: Patients with favourable prognostic parameters, such as localised disease without deep myometrial invasion, single polyp and embryonal histologic subtype, can effectively be treated by surgery. Patients with unfavourable prognostic parameters seem to benefit from a multimodality approach including surgery, adjuvant chemotherapy and RT.

Embryonal rhabdomyosarcoma of the uterus associated with uterine inversion in an adolescent: a case report and published work review.

Embryonal rhabdomyosarcomas of the uterus are extremely rare malignant tumors and their association with uterine inversion is even rarer. The present case report refers to a 15-year-old Brazilian girl admitted to hospital with a 3-month history of transvaginal bleeding and a mass protruding from the vaginal introitus. Following biopsy of the lesion and confirmation of the diagnosis of embryonal rhabdomyosarcoma, the patient was submitted to total abdominal hysterectomy followed by chemotherapy and radiotherapy. The patient died 9 months after surgery. Embryonal rhabdomyosarcoma of the uterus is very rare and extremely aggressive. According to a published work review, there has been only one report to date on the association of embryonal rhabdomyosarcoma of the uterus and uterine inversion.

Molecular biology of rhabdomyosarcoma.

Rhabdomyosarcoma (RMS) is one of the most common extracranial solid tumours in children. Embryonal and alveolar subtypes of RMS present completely different genetic abnormalities. Embryonal RMS (eRMS) is characterised by loss of heterozygosity on the short arm of chromosome 11 (11p15.5), suggesting inactivation of a tumour-suppressor gene. In contrast, the majority (80-85%) of the alveolar RMS (aRMS) have the reciprocal chromosomal translocations 't(2;13)(q35;q14) or t(1;13)(p36;q14). t(2;13) appears in approximately 70% of patients with the alveolar subtype. The molecular counterpart of this translocation consists of the generation of a chimeric fusion gene involving the /PAX3/ gene located in chromosome 2 and a member of the fork-head family, /FOXO1/ (formerly /FKHR/), located in chromosome 13. A less frequent variant translocation t(1;13) involves another PAX family gene, /PAX7/, located in chromosome 1 and /FOXO1/ and is present in 10-15% of cases of the alveolar subtype in RMS. Recently, many studies focused on cancer have demonstrated the great potential of the genomic approach based on tumour expression profiles. These technologies permit the identification of new regulatory pathways. Molecular detection of minimal disease by a sensitive method could contribute to better treatment stratification in these patients. In RMS, the advances in the knowledge of the biological characteristics of the tumour are slowly translated into the clinical management of children with this tumour.

Rabdomiosarcoma embrionario hepatico: a propósito de un caso / Hepatic embrionary Rhabdomysarcoma: presentation of a case

El Rabdomiosarcoma es el sarcoma de tejidos blandos de origen musculoesqueléticos más frecuente en niños menores de 15 años y uno de los más comunes en adolescentes y adultos jóvenes. (1) Las áreas del cuerpo más comunes donde puede alojarse este tumor son la cabeza, el cuello, la vejiga, la vagina, los brazos, las piernas y el tronco. Aunque también puede encontrarse en la próstata, el oído medio y el sistema de conductos biliares. (2) En los niños con rabdomiosarcoma embrionario, esta anomalía se encuentra en el cromosoma 11, mientras el alveolar en los cromosomas 2 y 13. (1) Se reconocen tres subtipos: embrionario, alveolar y pleomórfico. El embrionario se observa en niños y adolescentes menores de 15 años y se localiza principalmente en la cabeza y en el cuello, tracto urogenital, retroperitoneo y extremidades. Los síntomas pueden incluir una masa visible o palpable que puede ser doloroso o no, parestesia, dolor. (2) El diagnóstico se establece a través del examen físico, historia médica completa, así como estudios imagenológicos, biopsia y punción de medula ósea. (3) El tratamiento específico será dado por la localización del tumor primario y el estadio del tumor, en algunos pacientes se administra quimioterapia preoperatorio en un intento de reducir la extensión de la intervención y de preservar órganos vitales. El pronóstico se relaciona con la edad del paciente, sitio de origen, resecabilidad. (4)

Leiomiossarcoma, rabdomiossarcoma embrionário e tumor maligno da bainha de nervo periférico: relato de três casos de sarcomas retroperitoneais atípicos / Leiomyosarcoma, embrionary rhabdomyosarcoma and malignant peripheral nerve sheath tumor: report of three cases of atypical retroperitoneal sarcomas

São relatados três casos de sarcomas retroperitoneais primários atípicos: leiomiossarcoma, rabdomiossarcoma embrionário e tumor maligno da bainha de nervo periférico (antigamente neurofibrossarcoma ou neurossarcoma). São lesões incomuns e geralmente diagnosticadas tardiamente, caracterizadas por volumosas e heterogêneas massas no retroperitônio. A tomografia computadorizada com o uso de contraste endovenoso é um método adequado na avaliação destas entidades e de sua relação com órgãos e estruturas adjacentes.