دورية أكاديمية

Impact of the Identification of Nonhuman Genetic Signatures in the Diagnosis and Management of Carcinoma of Unknown Primary

التفاصيل البيبلوغرافية
العنوان: Impact of the Identification of Nonhuman Genetic Signatures in the Diagnosis and Management of Carcinoma of Unknown Primary
المؤلفون: Barquín García, Arantzazu, Palacios-Zambrano, Sara, Lozano Alarcón, Felipe, Paumard-Hernández, Beatriz, Quiralte Pulido, Miguel, Navarro, Paloma, Rodríguez, Laura, Salas Villar, Isabel, García-Donas, Jesús
المصدر: Journal of the National Comprehensive Cancer Network ; volume 22, issue 1D, page 1-5 ; ISSN 1540-1405 1540-1413
بيانات النشر: Harborside Press, LLC
سنة النشر: 2024
مصطلحات موضوعية: Oncology
الوصف: This report presents the case of a 62-year-old woman who was diagnosed in 1999 with stage I cervical carcinoma treated by surgical resection. In 2021, she presented to the emergency department with a complaint of predominantly right-sided lower back pain. A CT scan of the lumbosacral region revealed a bone lesion in the L5 vertebra and retroperitoneal lymphadenopathies suggestive of malignancy. Histology of the L5 vertebra biopsy showed a poorly differentiated carcinoma with an inconclusive immunophenotypic profile. Treatment for carcinoma of unknown primary was started with a combination of carboplatin and paclitaxel every 21 days. A genomic study of the biopsy specimen performed on the FoundationOne CDx platform identified a nonhuman genetic signature compatible with HPV. The presence of HPV 18 DNA in the specimen was confirmed by PCR-reverse dot blot, and the immunophenotypic profile was expanded, revealing strong and diffuse p16 expression, thus corroborating the molecular findings. In view of these findings, the case was reclassified as a recurrence of the cervical adenocarcinoma that had been diagnosed and treated 23 years earlier. Based on the new results, and according to first-line cervical carcinoma protocols, bevacizumab at 15 mg/kg every 21 days was added to her chemotherapy regimen. The identification of HPV DNA sequences by next-generation sequencing facilitated the correct diagnosis and led to a modification of the first-line therapeutic approach.
نوع الوثيقة: article in journal/newspaper
اللغة: unknown
DOI: 10.6004/jnccn.2023.7079
الإتاحة: https://doi.org/10.6004/jnccn.2023.7079Test
https://jnccn.org/view/journals/jnccn/22/1D/article-p1_5.xmlTest
https://jnccn.org/downloadpdf/journals/jnccn/22/1D/article-p1_5.xmlTest
رقم الانضمام: edsbas.DA4BDEA0
قاعدة البيانات: BASE