دورية أكاديمية
Impact of the Identification of Nonhuman Genetic Signatures in the Diagnosis and Management of Carcinoma of Unknown Primary
العنوان: | Impact of the Identification of Nonhuman Genetic Signatures in the Diagnosis and Management of Carcinoma of Unknown Primary |
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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 |
DOI: | 10.6004/jnccn.2023.7079 |
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