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A Rapidly Growing Cervical Tumor in an Infant: Sarcoma with BCOR Gene Alterations
(SAGE Publications, 2026)
Puliti, Beatrice
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Lizardo-Thiebaud, María José
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Piedras, Diana
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Padilla Rodríguez, Álvaro Lezid
Cervical masses in infants are most often benign, typically of congenital or infectious origin; however, malignancies do occur and vary by anatomical location. Among malignant tumors, rhabdomyosarcoma is the most common soft tissue sarcoma of the head and neck in this age group. We present a neonate with a rapidly enlarging cervical mass, ultimately diagnosed as a high-grade sarcoma with a BCL6 corepressor (BCOR) alteration. At two months of age, the infant developed a rapidly growing tumor in the left submandibular region, resulting in respiratory distress. Imaging revealed a firm, homogeneous 3 cm mass adherent to deep cervical tissues. Surgical resection achieved approximately 80% tumor removal; intraoperatively, the mass appeared highly vascularized. Definitive diagnosis required advanced molecular testing, which identified a BCOR gene alteration and informed targeted therapeutic planning. At six-month follow-up, the patient remained clinically stable, with no evidence of local recurrence or distant metastasis. This patient’s presentation underscores the essential role of comprehensive genomic profiling in distinguishing between histologically similar pediatric sarcomas and guiding appropriate, individualized treatment. ©The authors ©SAGE Publications.
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Pediatric conjunctival melanoma: A comprehensive case report and literature review
(Elsevier, 2024)
Cantú-Soriano, Gonzalo N.
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Sánchez, N. G.
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Suárez-Reynoso, L.
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Padilla Rodríguez, Álvaro Lezid
Purpose: This case report aims to present a rare instance of conjunctival melanoma in a 5-year-old patient and contribute to the limited body of knowledge on pediatric conjunctival melanoma. The purpose is to understand the characteristics, diagnosis, and management of this uncommon malignancy in young individuals. Observations: The case describes a 5-year-old female with a progressively growing pigmented conjunctival lesion. The lesion was observed to be located on the temporal conjunctiva of the right eye and displayed distinctive features, including feeder vessels. Imaging revealed specific dimensions of the lesion and ruled out deeper invasions. Histopathological examination revealed architectural and cytologic atypia, positive immunohistochemical staining for HMB-45, and a Ki67 proliferation index of 20 %, confirming the diagnosis of conjunctival melanoma. ©American Journal of Ophthalmology Case Reports.
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Tumor fibroso calcificante intestinal: reporte de caso
(Elsevier, 2023)
Cantú-Soriano, Gonzalo Nathaniel
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Padilla Rodríguez, Álvaro Lezid
Calcifying fibrous tumor (CFT) is a rare benign lesion of mesenchymal origin that may present similar characteristics to other more common tumors. We present the case of a 36-year-old woman with a tumor in the proximal jejunum, initially suspected to be a gastrointestinal stromal tumor (GIST). Surgical resection was performed, revealing a well-demarcated nodule at the anti-mesenteric border with microscopic features typical of a calcifying fibrous tumor. The tumor cells were positive for CD34 and negative for other markers, differentiating it from other neoplasms. Calcifying fibrous tumors can be confused with more common tumors because of its appearance, but an accurate diagnosis supported by immunohistochemistry is essential. Complete surgical excision is usually curative. © 2023 Sociedad Española de Anatomía Patológica. ©Elsevier
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Cutaneous Angiomyolipoma—a distinct entity that should be separated from classic Angiomyolipoma: complete review of existing cases and defining fundamental features
(2022)
Sánchez, Natalia Gabriela
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Ávila Romay, Alfonsina Angelica
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Martínez Luna, Eduwiges
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Padilla Rodríguez, Álvaro Lezid
Cutaneous angiomyolipoma is a rare mesenchymal tumor that is demographically, clinically, and immunohistochemically distinct from its renal and extrarenal counterparts. We present a case of cutaneous angiomyolipoma in the right retroauricular area of a 35-year-old male patient and provide a broad systematic review of the literature and the largest compilation of cutaneous angiomyolipomas reported to date. According to the findings presented in this review, we conclude that cutaneous angiomyolipoma should be completely separated from renal and extrarenal angiomyolipomas and therefore be considered a distinct entity in the classification of skin tumors. ©The authors, JMIR Dermatology
Scopus© Citations 2 20 1
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Apéndice triluminal septado: Una variante morfológica de septo con muscularis propria
(2023)
Sánchez, N.G.
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Estrada-Ortíz, F. A.
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Peñarrieta-Daher, A.A.
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Padilla Rodríguez, Álvaro Lezid
Las malformaciones del apéndice son extremadamente raras y usualmente son un hallazgo incidental1. Los apéndices septados solamente se han descrito en una serie de casos que reportó 25 casos de septos conformados por submucosa, sin muscularis propria2. Presentamos el primer caso de apéndice septado con cada luz separada por septos con muscularis propria. ©Revista de Gastroenterología de México
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