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Author: search.filters.author.Lizardo-Thiebaud, María JoséLanguage: search.filters.language.English

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    A Rapidly Growing Cervical Tumor in an Infant: Sarcoma with BCOR Gene Alterations
    (SAGE Publications, 2026)
    Puliti, Beatrice
    ;
    Lizardo-Thiebaud, María José
    ;
    Piedras, Diana
    ;
    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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    Direct or collateral liver damage in SARS-CoV-2-infected patients
    (2020)
    Lizardo-Thiebaud, María José
    ;
    Cervantes-Álvarez, Eduardo
    ;
    Limón-de la Rosa, Nathaly
    ;
    Tejeda Domínguez, Farid  
    ;
    Palacios-Jiménez, Mildred
    Liver injury can result from severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection with more than one-third of COVID-19 patients exhibiting elevated liver enzymes. Microvesicular steatosis, inflammation, vascular congestion, and thrombosis in the liver have been described in autopsy samples from COVID-19 patients. Several factors, including direct cytopathic effect of the virus, immune-mediated collateral damage, or an exacerbation of preexisting liver disease may contribute to liver pathology in COVID-19. Due to its immunological functions, the liver is an organ likely to participate in the viral response against SARS-CoV-2 and this may predispose it to injury. A better understanding of the mechanism contributing to liver injury is needed to develop and implement early measures to prevent serious liver damage in patients suffering from COVID-19. This review summarizes current reports of SARS-CoV-2 with an emphasis on how direct infection and subsequent severe inflammatory response may contribute to liver injury in patients with and without preexisting liver disease. © 2020 American Institute of Physics Inc.. All rights reserved.
    Scopus© Citations 24  29  2