A curious case of Ewing sarcoma with epithelial differentiation, presenting as a breast mass

Introducción. El carcinoma de células de Merkel (CCM) es un cáncer neuroendocrino de la piel, agresivo, muy poco frecuente que, por lo general, aparece como un nódulo en la cara, cabeza o cuello. El CCM ocurre principalmente en adultos mayores. Presentación del caso. Hombre de 85 años, blanco, que asistió al Servicio de Mastología del Instituto Nacional de Oncología y Radiobiología (INOR), en La Habana, Cuba, por aumento de volumen, cambio de color y temperatura en la mama derecha. El paciente había sufrido trauma térmico en el hemitórax derecho 18 años antes de la consulta, el cual fue tratado mediante injerto cutáneo del muslo. En los estudios de imagen (ultrasonido, mamografía, resonancia magnética y tomografía computarizada) se observó un nódulo con características imagenológicas sugestivas de malignidad. El diagnóstico de CCM se confirmó mediante biopsia por punción con aguja gruesa, donde se reportó positividad de marcadores CD-56, CK-7 y Ki- 67. Conclusiones. Característicamente, el CCM se presenta como nódulos cutáneos firmes de rápido crecimiento en las áreas expuestas al sol, a diferencia del presente caso, en el que la lesión apareció en la piel injertada en el hemitórax derecho. Reconocer hallazgos imagenológicos sugestivos de esta neoplasia es de gran importancia para el diagnóstico en zonas inusuales del cuerpo como la mama.

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Carcinoma de Merkel primario de la mama en un hombre con injerto cutáneo: reporte de caso

Calderón-Montero

Quevedo-Ramírez

Campos-Bernardo

et al. 2022

Rev. Fac. Med.

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Ewing’s Sarcoma of the Breast in a Young Woman: A Case Report and Review of the Literature

et al. 2022

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Ewing’s Sarcoma Family Tumors (ESFT) include classic Ewing’s sarcoma of bone, extra-skeletal Ewing’s sarcoma (EES), malignant small cell tumor of the chest wall (Askin tumor), and soft tissue-based Peripheral Primitive Neuroectodermal tumors (pPNET). The t(11;22)(q24;q12) translocation is associated with 85% of tumors and leads to EWS-FLI-1 (Ewing’s Sarcoma–Friend Leukemia Integration-1) formation. This is a potent transforming gene that encodes a chimeric protein that plays a role in the genesis of Ewing’s Sarcoma and Primitive Neuroectodermal Tumors. The breast location of ESFT remains exceptional. The prognosis is among the poorest of all subtypes of breast cancer and even poorer than other extraosseous Ewing’s sarcomas. We describe the case report of a 23-year-old patient with a growing breast lump, who required an accurate and challenging diagnostic estimation and who ultimately resulted in a peripheral primary neuroectodermal tumor (pPNET). Through this case description and a brief narrative review of the literature, we aim to highlight the rarity of ESFT located in the breast. Histopathological confirmation is mandatory for all growing masses of the breast to reach a conclusive diagnosis and plan the correct treatment. Patients with rare diagnoses should always be centralized in breast units, conducting multidisciplinary meetings and, when necessary, the diagnosis should be shared through wider national or international registries.

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A curious case of Ewing sarcoma with epithelial differentiation, presenting as a breast mass

Cited by 2 publications

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Carcinoma de Merkel primario de la mama en un hombre con injerto cutáneo: reporte de caso

Carcinoma de Merkel primario de la mama en un hombre con injerto cutáneo: reporte de caso

Ewing’s Sarcoma of the Breast in a Young Woman: A Case Report and Review of the Literature

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