ABSTRACT
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.
Subject(s)
Eye Neoplasms/pathology , Rhabdomyosarcoma, Embryonal/pathology , Child , Eye Neoplasms/surgery , Humans , Male , Rhabdomyosarcoma, Embryonal/surgery , Treatment OutcomeABSTRACT
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.
Subject(s)
Child , Humans , Male , Eye Neoplasms/pathology , Rhabdomyosarcoma, Embryonal/pathology , Eye Neoplasms/surgery , Rhabdomyosarcoma, Embryonal/surgery , Treatment OutcomeABSTRACT
Primary cutaneous signet-ring cell carcinomas are rare and aggressive neoplasms. These neoplasms have been mostly described in the eyelids, and more uncommonly, in the axillary skin. Histopathologically, the neoplasm seems to be composed of signet-ring cells or histiocytoid epithelial cells arranged in an Indian file growth pattern between collagen bundles of the dermis. Immunohistochemically, neoplastic cells expressed strong diffuse reactivity for CAM 5.2, CK7, high molecular weight CK, AE1/AE3 and MNF116 cytokeratins, carcinoembryonic antigen, epithelial membrane antigen, gross cystic disease fluid protein-15, p63, mucin-1 (MUC-1), BerEP4, and E-cadherin; moderate positivity for α-smooth muscle actin, tissue-specific transcription factor 1, MUC-2, Podoplanin, and N-cadherin; and weak positivity for epidermal growth factor receptor. Estrogen and progesterone receptors show positive results in some cases and negative results in others. The histopathologic and immunohistochemical features of primary signet-ring cell or histiocytoid carcinoma of the eyelid are closely similar to those of histiocytoid lobular carcinoma of the breast, and there are several examples of histiocytoid mammary carcinoma metastatic to the eyelids. Therefore, histopathologic differential diagnosis between primary and metastatic signet-ring cell or histiocytoid eyelid carcinomas is mandatory. In this study, we report our experience with the clinical, histopathologic, and immunohistochemical findings in 5 cases of primary signet-ring cell or histiocytoid carcinoma of the eyelid. We investigated the usefulness of p63, epidermal growth factor receptor, MUC-1, MUC-2, mammaglobin, and E-cadherin as immunohistochemical markers for this histopathologic differential diagnosis. Primary signet-ring cell carcinoma of the eyelid is an aggressive neoplasm that may develop regional or distant metastases, and therefore, it should be excised with wide margins.
Subject(s)
Biomarkers, Tumor/analysis , Carcinoma, Signet Ring Cell/pathology , Eyelid Neoplasms/pathology , Aged , Aged, 80 and over , Carcinoma, Signet Ring Cell/metabolism , Eyelid Neoplasms/metabolism , Female , Humans , Immunohistochemistry , Male , Middle AgedABSTRACT
Bilateral periorbital edema and swelling are frequent in clinical practice and are commonly attributed to orbital contact dermatitis due to different drugs and cosmetic products. However, when there is a background of a solid cancer, the possibility of eyelid metastasis should be also considered. Metastases to the eyelids are rare, and in most cases, these lesions are unilateral. Because only a few cases of bilateral involvement have been reported in the literature, clinical and morphological data of this variant are under recognized. We report the clinical and histopathological characteristics of 2 patients with 4 eyelid metastasis and review the previous cases reported in the literature.
