Intraosseous Spindle Cell/Epithelioid Rhabdomyosarcoma with TFCP2 Rearrangement: A Recent Recognized Subtype with Partial Response to Alectinib.

Rhabdomyosarcoma affects mainly pediatric patients and is currently classified into four categories: embryonal, alveolar, pleomorphic, and spindle cell/sclerosing. Recently, a molecular group of spindle cell/sclerosing rhabdomyosarcoma demonstrated new fusion transcripts involving FET-family genes with TFCP2. In this report, we describe a rare case of spindle cell/sclerosing rhabdomyosarcoma in a 19-year-old woman, presenting as a destructive lesion involving the condyle of mandible. Next generation sequencing was performed, revealing a FUS::TFCP2 fusion and deletion of ALK gene. Alectinib therapy was initiated, which resulted in a favorable response for 4 months. However, the patient died due progression of the tumor. To make an accurate diagnosis and ensure appropriate patient management, it is necessary to be aware of this variant and use proper immunohistochemical stains when facing malignant mesenchymal bone lesions, expanding its differential diagnosis.

Neuroblastoma olfatório radioinduzido: um relato de caso / Radioinduced olfactory neuroblastoma: a case report

O neuroblastoma olfatório é um tumor neuroepitelial raro, que cresce do epitélio olfatório na placa cribriforme ou na porção superior da cavidade nasal. Apresenta dois picos de incidência, entre 11 e 20 anos e entre 51 e 60 anos. O comprometimento da mucosa olfatória na porção superior das fossas nasais pode sinalizar a possibilidade de neuroblastoma olfatório, principalmente quando associado à lesão intracraniana com cistos adjacentes. Possui alta incidência de recidiva, e há a necessidade de acompanhamento prolongado. Apresentamos o caso de uma paciente do sexo feminino, 15 anos, com histórico de rabdomiossarcoma embrionário com anaplasia de órbita esquerda, submetida a tratamento quimiorradioterápico até 2009. Permaneceu por mais de 10 anos em controle, procurando assistência médica, por queixa de anosmia de início há um mês associada a cefaleia, aumento da protrusão de olho esquerdo e ptose. A tomografia computadorizada e ressonância magnética revelaram o surgimento de volumosa formação expansiva extra-axial, de contorno lobulado e limites parcialmente definidos, centrada na base craniana anterior, em situação mediana, que determinava osteodestruição do etmoide, do plano esfenoidal e das fóveas etmoidais, com projeção nas fossas nasais e, através das lâminas papiráceas, em ambas as cavidades orbitárias, sobretudo na esquerda, onde rechaçava o músculo reto medial e mantinha contato com o globo ocular. A massa apresentava impregnação difusa pelo contraste, exceto por cistos situados na periferia do componente de extensão intracraniano. Sendo considerado o surgimento tardio da massa descrita ao longo do controle evolutivo da lesão primária orbitária, bem como a localização e as características intrínsecas, foi sugerida a possibilidade de neuroblastoma olfatório radioinduzido, sendo tal hipótese confirmada pelo estudo histopatológico. Foi realizada a ressecção total do tumor e quimioterapia adjuvante, estando programado o início de radioterapia

Olfactory neuroblastoma is a rare neuroepithelial tumor that grows from the olfactory epithelium in the cribriform plate or upper portion of the nasal cavity. It has two incidence peaks, between 11 and 20 years and between 51 and 60 years. Compromising the olfactory mucosa in the upper portion of the nasal cavities may signal the possibility of olfactory neuroblastoma, especially when associated with an intracranial lesion with adjacent cysts. It has a high incidence of recurrence, and there is a need for prolonged follow-up. We present the case of a female patient, 15 years old, with a history of anaplastic embryonal rhabdomyosarcoma of the left orbit, who underwent chemoradiotherapy treatment until 2009. She remained under control for more than 10 years, having sought medical assistance, complaining of anosmia that had started a month before, associated with headache, increased protrusion of the left eye and ptosis. Computed tomography and magnetic resonance imaging revealed the emergence of a large extra-axial expansive formation, with a lobulated contour and partially defined limits, centered on the anterior cranial base, in a median position, which determined osteodestruction of the ethmoid, sphenoid plane and ethmoidal foveas, with projection in the nasal cavities and, through the papyraceous laminae, in both orbital cavities, especially in the left, where it repelled the medial rectus muscle and maintained contact with the ocular globe. The mass showed diffuse contrast enhancement, except for cysts located at the periphery of the intracranial extension component. Considering the late appearance of the mass described during the follow up of the primary orbital lesion, as well as the location and intrinsic characteristics, the possibility of radio-induced olfactory neuroblastoma was suggested, and this hypothesis was confirmed by the histopathological study. Total resection of the tumor and adjuvant chemotherapy were performed, and the start of radiotherapy is scheduled

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.

Report of a Primary Testicular Embryonal Rhabdomyosarcoma.

Primary testicular rhabdomyosarcoma is a rare pediatric genitourinary tumor with few cases reported in the literature. The clinical presentation is identical to that of other common testicular neoplasms. Diagnosis entails careful microscopic examination and immunohistochemical analysis to rule out other primary testicular malignancies. Treatment consists of radical orchiectomy and adjuvant chemotherapy with possible retroperitoneal lymph node dissection. This multimodal approach is required to improve survival outcomes and reduce disease recurrence. We present the case of a primary testicular embryonal rhabdomyosarcoma in a 19-year-old male who presented with a rapidly, enlarging, painless testicular mass. He was treated with radical orchiectomy and adjuvant chemotherapy. Once found with metastatic disease, he then received salvage chemotherapy and radiotherapy without success.

[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.

[Primary pulmonary rabdomyosarcoma: clinical-pathological and immunohistochemical findings]. / Rabdomiosarcoma pulmonar primario: hallazgos clínico-patológicos e inmunohistoquímicos.

Pulmonary rhabdomyosarcona is a rare entity and the histopatological differential diagnosis can be difficult. We report on a case of a 48-year-old male patient with a neoplasm located at the hilum of the right lung. The histological study of the lobectomy specimen allowed the diagnosis of embryonal rhabdomyosarcoma to be made. Given the absence of tumor lesions in other sites, it was classified as primary pulmonary neoplasm. The patient underwent chemotherapy and subsequently a completion pneumonectomy for recurrence of the tumor. One year after the initial surgery, he presented a metastasis in the right adrenal gland. He died 20 months after the original diagnosis. The importance of immunohistochemistry in the diagnosis is emphasized and the different theories that attempt to explain the histogénesis of these tumors in unusual sites are analyzed.

El rabdomiosarcoma pulmonar es una entidad rara y muy poco frecuente, más aún en la población adulta, lo que puede dificultar el diagnóstico correcto. Se presenta el caso de un varón de 48 años con un tumor pulmonar. El estudio histológico reveló que se trataba de un rabdomiosaroma embrionario pulmonar primario. Dada la ausencia de lesiones tumorales en otros sitios fue catalogado como primario pulmonar. El paciente realizó quimioterapia y posteriormente fue sometido a una neumonectomía por recidiva de la neoplasia. Al año de la cirugía inicial presentó una metástasis en glándula suprarrenal derecha. Falleció al cabo de 20 meses del diagnóstico original. Se enfatiza la importancia de la inmunohistoquímica en el diagnóstico y se analizan las distintas teorías vigentes que intentan explicar la histogénesis de estos tumores en sitios no habituales.

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.

Rabdomiossarcoma embrionário de colo uterino: relato de caso em adolescente / Embryonic rabdomyosarcoma of the cervix: case report in a teenager

O rabdomiossarcoma embrionário, variante botrioide, é uma neoplasia maligna dos tecidos moles que deriva de células musculares mesenquimais embrionárias. Alguns fatores de risco genéticos são conhecidos, mas a doença geralmente se apresenta de forma esporádica. É raro manifestar-se em adolescentes, assim como é raro ser primário do colo uterino. Cursa com a presença de pólipos e até massas que se sobressaem na vagina com casos de sangramento vaginal anormal. O diagnóstico é realizado essencialmente pela história e exame anatomopatológico. Quanto maior o tempo para confirmação do diagnóstico, pior o prognóstico. Há várias modalidades de tratamento ­ que deve ser individualizado e envolver uma equipe multidisciplinar ­, que, basicamente, incluem quimioterapia, radioterapia e cirurgia. Os resultados geralmente são menos favoráveis em adolescentes, quando comparados com os de crianças com a mesma neoplasia.(AU)

Embryonic rhabdomyosarcoma, a botryoid variant, is a malignant neoplasm of soft tissues that derives from embryonic mesenchymal muscle cells. Some genetic risk factors are known, but the disease usually presents itself sporadically. It's rarely manifested in adolescents, just as it is rare to be primary in the cervix. It occurs with the presence of polyps and even masses that protrude in the vagina with cases of abnormal vaginal bleeding. The diagnosis is made essentially by history and anatomopathological examination. The longer the time to confirm the diagnosis, the worse the prognosis. There are several treatment modalities ­ involving a multidisciplinary team ­ that must be individualized and basically include chemotherapy, radiotherapy and surgery. The results are generally less favorable in adolescents, when compared with those of children with the same neoplasia.(AU)

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.

Vinorelbine and continuous low-dose cyclophosphamide as maintenance chemotherapy in patients with high-risk rhabdomyosarcoma (RMS 2005): a multicentre, open-label, randomised, phase 3 trial.

BACKGROUND: For more than three decades, standard treatment for rhabdomyosarcoma in Europe has included 6 months of chemotherapy. The European paediatric Soft tissue sarcoma Study Group (EpSSG) aimed to investigate whether prolonging treatment with maintenance chemotherapy would improve survival in patients with high-risk rhabdomyosarcoma. METHODS: RMS 2005 was a multicentre, open-label, randomised, controlled, phase 3 trial done at 102 hospitals in 14 countries. We included patients aged 6 months to 21 years with rhabdomyosarcoma who were considered to be at high risk of relapse: those with non-metastatic incompletely resected embryonal rhabdomyosarcoma occurring at unfavourable sites with unfavourable age (≥10 years) or tumour size (>5 cm), or both; those with any non-metastatic rhabdomyosarcoma with nodal involvement; and those with non-metastatic alveolar rhabdomyosarcoma but without nodal involvement. Patients in remission after standard treatment (nine cycles of ifosfamide, vincristine, dactinomycin with or without doxorubicin, and surgery or radiotherapy, or both) were randomly assigned (1:1) to stop treatment or continue maintenance chemotherapy (six cycles of intravenous vinorelbine 25 mg/m2 on days 1, 8, and 15, and daily oral cyclophosphamide 25 mg/m2, on days 1-28). Randomisation was done by use of a web-based system and was stratified (block size of four) by enrolling country and risk subgroup. Neither investigators nor patients were masked to treatment allocation. The primary outcome was disease-free survival in the intention-to-treat population. Secondary outcomes were overall survival and toxicity. This trial is registered with EudraCT, number 2005-000217-35, and ClinicalTrials.gov, number NCT00339118, and follow-up is ongoing. FINDINGS: Between April 20, 2006, and Dec 21, 2016, 371 patients were enrolled and randomly assigned to the two groups: 186 to stop treatment and 185 to receive maintenance chemotherapy. Median follow-up was 60·3 months (IQR 32·4-89·4). In the intention-to-treat population, 5-year disease-free survival was 77·6% (95% CI 70·6-83·2) with maintenance chemotherapy versus 69·8% (62·2-76·2) without maintenance chemotherapy (hazard ratio [HR] 0·68 [95% CI 0·45-1·02]; p=0·061), and 5-year overall survival was 86·5% (95% CI 80·2-90·9) with maintenance chemotherapy versus 73·7% (65·8-80·1) without (HR 0·52 [95% CI 0·32-0·86]; p=0·0097). Toxicity was manageable in patients who received maintenance chemotherapy: 136 (75%) of 181 patients had grade 3-4 leucopenia, 148 (82%) had grade 3-4 neutropenia, 19 (10%) had anaemia, two (1%) had thrombocytopenia, and 56 (31%) had an infection. One (1%) patient had a grade 4 non-haematological toxicity (neurotoxicity). Two treatment-related serious adverse events occurred: one case of inappropriate antidiuretic hormone secretion and one of a severe steppage gait with limb pain, both of which resolved. INTERPRETATION: Adding maintenance chemotherapy seems to improve survival for patients with high-risk rhabdomyosarcoma. This approach will be the new standard of care for patients with high-risk rhabdomyosarcoma in future EpSSG trials. FUNDING: Fondazione Città della Speranza, Association Léon Berard Enfant Cancéreux, Clinical Research Hospital Program (French Ministry of Health), and Cancer Research UK.

Uterine cavity embryonal rhabdomyosarcoma

Rhabdomyosarcoma (RMS) is a rare solid tumor in childhood and adolescence. The higher incidence is predominant during the first two decades of life. According to the Intergroup RMS Study Group, the embryonal RMS (ERMS), botryoidal variant, constitutes a histological subtype characterized as a "grape-like" lesion of 2.0 cm to 9.5 cm. The treatment involves chemotherapy, surgery, and/or radiotherapy. We present the case of a 14-year-old female patient diagnosed with ERMS, botryoidal variant, which originated in the uterine cervix with vaginal externalization. The initial therapeutic approach comprised an initial prolapsed mass excision followed by Wertheim­Meigs surgery due to the tumor extension. No consensual protocol to ERMS treatment is found in the medical literature; however, a combined approach seems to offer a better result. The postoperative time period was uneventful and the patient followed an adjuvant therapy with vincristine, d-actinomycin, and cyclophosphamide. A comprehensive evaluation of the therapeutic options preserving the reproductive function­unfortunately not always possible­is part of a multi-disciplined care team concerning the pediatric patients.

Embryonal Rhabdomyosarcoma (Botryoid Subtype) Affecting the Buccal Mucosa.

Rhabdomyosarcoma (RMS) is a rare oral malignant soft tissue tumor whose pathological features may influence the clinical behavior, treatment and prognosis of the lesion. We report a case of a 13-year-old female patient, presenting an asymptomatic polypoid swelling in the left buccal mucosa that was approximately 2.5 cm in diameter and 3 months evolution. The presumptive diagnosis was fibrous hyperplasia and an excisional biopsy was carried out. Pathologic analysis revealed proliferation of predominantly ovoid cells, with eosinophilic cytoplasm and pleomorphic nuclei, arranged in subepithelial cambium layer. The mucosal surface presented a papillary-verrucous appearance. Immunohistochemical analysis revealed intense positivity for desmin, myogenin and Ki-67. The diagnosis was of embryonal RMS (botryoid variant). The patient was subjected to complementary chemotherapy and radiotherapy, with no evidence of recurrence or metastatic disease after 12 months follow-up. A discussion on the clinical, histopathological, immunohistochemical and therapeutic aspects of botryoid RMS will be provided.

Rabdomiossarcoma Embrionário: Relato de Caso com 15 Anos de Sobrevida e Revisão de Literatura / Embryonal Rhabdomyosarcoma: Case Report with a 15-year Survival and Literature Review

O rabdomiossarcoma de cabeça e pescoço é o sarcoma mais comum de tecido mole em crianças. O planejamento do tratamento depende da localização do tumor, extensão da doença e presença ou não de metástases.O tratamento pode causar diversas sequelas tardias na região de cabeça e pescoço, principalmente na cavidade oral. A prevenção e o controle dessas sequelas proporcionam uma melhor qualidade de vida para o paciente. Relato de caso: Este relato descreve um caso de rabdomiossarcoma embrionário parameníngeo em região de parótida diagnosticadoem um paciente do sexo masculino aos 3 anos de idade, tratado com quimioterapia e radioterapia. Esse paciente recebeu atendimento odontológico como parte integrante do tratamento multidisciplinar. Apresentou boa resposta ao tratamento, permanecendo em controle clínico sem evidência de doença por 15 anos. As sequelas tardias em face e cavidade oral do tratamento oncológico foram: fechamento precoce das raízes; rizogênese incompleta em todos os elementos dentários; agenesias dentárias; múltiplos dentes inclusos; hipoplasia dos ossos da face e trismo. Entretanto,teve qualidade de vida satisfatória, com manutenção da capacidade mastigatória, tendo frequentado a escola edesenvolvido um bom convívio social. Conclusão: O rabdomiossarcoma de cabeça e pescoço está associado a sequelas tardias decorrentes tratamento. A abordagem multidisciplinar é importante para a prevenção e o controle das sequelas e obtenção de uma melhor qualidade de vida para os pacientes...

Investigation of PAX3/7-FKHR fusion genes and IGF2 gene expression in rhabdomyosarcoma tumors.

The purpose of our study was to investigate the prevalence of the PAX3/7-FKHR fusion genes and quantify the IGF2 gene expression in rhabdomyosarcoma (RMS) samples. Soft tissue sarcomas account 5% of childhood cancers and 50% of them are RMS. Morphological evaluation of pediatric RMS has defined two histological subtypes, embryonal (ERMS) and alveolar (ARMS). Chromosomal analyses have demonstrated two translocations associated with ARMS, resulting in the PAX3/7-FKHR rearrangements. Reverse transcriptase-polymerase chain reaction (RT-PCR) is extremely useful in the diagnosis of ARMS positive for these rearrangements. Additionally, several studies have shown a significant involvement of IGF pathway in the pathogenesis of RMS. The presence of PAX3/7-FKHR gene fusions was studied in 25 RMS samples from patients attending the IOP-GRAACC/UNIFESP and three RMS cell lines by RT-PCR. IGF2 gene expression was quantified by qPCR and related with clinic pathological parameters. Of the 25 samples, nine (36%) were ARMS and 16 (64%) were ERMS. PAX3/7-FKHR gene fusions expression was detected in 56% of ARMS tumor samples. IGF2 overexpression was observed in 80% of samples and could indicate an important role of this pathway in RMS biology.