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.

Rhabdomyosarcoma of breast resembles acute leukemia：a case report and review of the literature / 肿瘤研究与临床

Objective To investigate the clinical pathological characteristics, diagnosis and treatment of breast rhabdomyosarcoma, and to enhance the awareness of malignancy infiltration to bone marrow (BM). Methods The data of one case of Rhabdomyosarcoma of breast were analyzed retrospectively. BM aspirate and biopsy, morphology, immunology, cytogenetics, molecular biology (MICM) in different parts of BM, peripheral blood smear, fine puncture of breast mass, final biopsy of breast mass by Mammotome System and whole body PET-CT were performed. The immunochemistry stain of specimen of breast mass was used. Results The peripheral blood smear of this patient showed immature erythrocytes, leucocytes and classification of unknown cells which were consistent with BM morphology. The results of BM aspirate and biopsy depicted a hypercellular specimen with disseminated unknown cells infiltration. Unknown cells were positive for CD56 and negative for any hematopoietic markers by flow cytometry. The whole body PET-CT showed that uptake of 18F-FDG of bilateral breast and whole BM was increased, whereas the mass of breast was not presented by CT. PET-CT suggested a probable malignant hematologic disease. The enough specimen of breast mass got from Mammotome System showed embryonal rhabdomyosarcoma, and the tumor cells were positive for MyoD1, Vimentin and Desmin. Conclusions It is a challenge for early diagnosis of solid sarcoma with unknown origin which diffusely infiltrating into BM. Negative expression of hematopoietic markers by flow cytometry plays a role on differential diagnosis in this setting, whereas PET-CT only provides a valuable reference. Enough specimen and immunohistochemical staining could provide solid evidences of diagnosis.

Embryonal rhabdomyosarcoma of the caruncle in a 4 year-old boy: case report / Rabdomiossarcoma embrionário da carúncula em um menino de 4 anos: relato de caso

Rhabdomyosarcoma is a rare tumor, with an annual incidence of 4.3 cases per million children. Even thought, it is the most common soft tissue sarcoma in childhood, with a mean age of 6 to 8 years at diagnosis. A 4 year-old boy presented with a history of a fast growing (1-month) nodular lesion in the caruncle of his left eye. Slit lamp examination showed a vascularized solid nodular lesion in the semilunar fold. The lesion was surgically removed obtaining infiltrated edges with tumoral cells. A second surgery was performed with free tumour edges. The diagnosis of embryonal rhabdomyosarcoma, botryoid type, of intermediate differentiation was made. The treatment for botryoid rhabdomyosarcoma is basically surgical with the combined use of adjuvant polychemotherapy. In adolescent or adult patients (not in infants where growth bone disturbances can occur) external beam radiotherapy can be combined with chemotherapy. Rhabdomyosarcomas of the conjunctiva without orbital extension are rarely reported. We presented a case of a child with a rare tumor which we had a high suspicion of malignancy and early diagnosis and treatment and child is free of systemic disease 6 and half years later. Our research group believes that the key in these tumors is the high index of suspicion and early treatment.

Rabdomiossarcoma é um tumor raro, com uma incidência anual de 4,3 casos por milhão de crianças. É o sarcoma de partes moles mais comum na infância, com uma idade média de 6 a 8 anos no momento do diagnóstico. Um menino de 4 anos apresentou-se com uma história de um crescimento rápido (1 mês) lesão nodular em carúncula de seu olho esquerdo. O exame biomicroscópico mostrou uma lesão vascularizada sólida nodular na prega semilunar. A lesão foi removida cirurgicamente com obtenção de bordas infiltradas com células tumorais, segunda cirurgia foi feita com bordas tumorais livres. O diagnóstico de rabdomiossarcoma embrionário, tipo botrióide, de diferenciação intermediária foi feita. O tratamento para a rabdomiossarcoma botrióide é basicamente cirúrgico com o uso combinado de poliquimioterapia adjuvante. Em pacientes adolescentes e adultos (e não em lactentes onde os distúrbios do crescimento ósseo pode ocorrer) radioterapia externa pode ser combinada com a quimioterapia. Rabdomiossarcomas da conjuntiva sem extensão orbital são raramente relatadas. Apresentamos um caso de uma criança com um tumor raro que tivemos uma alta suspeita de malignidade e diagnóstico precoce e tratamento e criança é livre de doença sistêmica 6 anos e meio depois. Nosso grupo de pesquisa acredita que a chave para esses tumores é o alto índice de suspeita e tratamento precoce.

Rabdomiossarcoma embrionário de vagina: relato de caso e revisão de literatura / Embryonal rhabdomyosarcoma of the vagina: case report and literature review

Rabdomiossarcoma é o sarcoma de partes moles, mais comum na infância, portanto de rara ocorrência em adultos e localiza-se no trato genital feminino. Entre seus subtipos, destaca-se como mais freqüente o embrionário. Representa um tumor agressivo, de difícil diagnóstico e tratamento envolvendo excisão cirúrgica, radioterapia e quimioterapia. Os autores apresentam um caso de rabdomiossarcoma embrionário localizado em vagina, enfatizando os aspectos relevantes sobre o tema.

Rhabdomyosarcoma is the most common soft tissue sarcoma of childhood, although it is rare in adults and in the female genital tract. Among its subtypes, embryonal distinguish as the most frequent one. It represents an aggressive tumor, with difficult diagnostic and its treatment includes surgical excision, radiotherapy and chemotherapy. The authors present a case of embryonal rhabdomyosarcoma localized in vagina, emphasizing relevant aspects about the topic.