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

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...

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Bibliographic Details
Published in:	Journal of the National Comprehensive Cancer Network Vol. 22; no. 1D; p. e237079
Main Authors:	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
Format:	Journal Article
Language:	English
Published:	United States 01-01-2024
Subjects:	Bevacizumab Carcinoma - drug therapy Female Humans Middle Aged Neoplasms, Unknown Primary - diagnosis Neoplasms, Unknown Primary - drug therapy Neoplasms, Unknown Primary - genetics Paclitaxel - therapeutic use Papillomavirus Infections Uterine Cervical Neoplasms - pathology carnoma unkown origin next generation sequencing HPV algorithm
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Summary:	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.
ISSN:	1540-1413
DOI:	10.6004/jnccn.2023.7079