Dataset Information

Metastatic carcinoma of unknown primary with complete metabolic response following sorafenib-based chemotherapy.

ABSTRACT:

Background

The treatment of carcinoma of unknown primary based on histopathology and immunohistochemistry is generally chemotherapy. The use of molecular markers, genetic profiling platforms, and personalized medicine is under active investigation.

Case report

We report the case of a 56-year-old patient who presented to medical attention with palpable axillary adenopathy. Biopsy confirmed poorly differentiated adenocarcinoma. Formal staging revealed extensive metastatic disease to bone and liver. Initial chemotherapy proved ineffective. We describe the diagnostic evaluation, treatment, and achievement of durable remission using a novel sorafenib-based drug combination that was chosen through the application of a functional analytic laboratory platform.

Conclusion

The clinical management of patients with carcinoma of unknown primary continues to present a considerable challenge for practicing oncologists. Laboratory platforms capable of examining cellular response to injury, growth factor withdrawal, and cytotoxic insult at the level of cellular function may provide insights for drug selection in this patient population.

SUBMITTER: Uson Junior PLS

PROVIDER: S-EPMC6429643 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Publications

Metastatic carcinoma of unknown primary with complete metabolic response following sorafenib-based chemotherapy.

Usón Junior Pedro Luiz Serrano PLS Wagner Jairo J Corpa Marcus Vinicius de Nigro MVN Coelho Iracema Moraes IM Nagourney Robert A RA Yamaguchi Nise Hitomi NH

SAGE open medical case reports 20190321

<h4>Background</h4>The treatment of carcinoma of unknown primary based on histopathology and immunohistochemistry is generally chemotherapy. The use of molecular markers, genetic profiling platforms, and personalized medicine is under active investigation.<h4>Case report</h4>We report the case of a 56-year-old patient who presented to medical attention with palpable axillary adenopathy. Biopsy confirmed poorly differentiated adenocarcinoma. Formal staging revealed extensive metastatic disease to ...[more]

PMID: 30915220

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Project description:Cancer of unknown primary (CUP) is an umbrella term used to classify a heterogeneous group of metastatic cancers based on the absence of an identifiable primary tumor. Clinically, CUPs are characterized by a set of distinct features comprising early metastatic dissemination in an atypical pattern, an aggressive clinical course, poor response to empiric chemotherapy and, consequently, a short life expectancy. Two opposing strategies to change the dismal prognosis for the better are pursued. On the one hand, following the traditional tissue-gnostic approach, more and more sophisticated tissue-of-origin (TOO) classifier assays are employed to push identification of the putative primary to its limits with the clear intent of allowing tumor-site specific treatment. However, robust evidence supporting its routine clinical use is still lacking, notably with two recent randomized clinical trials failing to show a patient benefit of TOO-prediction based site-specific treatment over empiric chemotherapy in CUP. On the other hand, with regards to a tissue-agnostic strategy, precision medicine approaches targeting actionable genomic alterations have already transformed the treatment for many known tumor types. Yet, an unmet need remains for well-designed clinical trials to scrutinize its potential role in CUP beyond anecdotal case reports. In the absence of practice changing results, we believe that the emphasis on finding the presumed unknown primary tumor at all costs, implicit in the term CUP, has biased recent research in the field. Focusing on the distinct clinical features shared by all CUPs, we advocate adopting the term primary metastatic cancer (PMC) to denominate a distinct cancer entity instead. In our view, PMC should be considered the archetype of metastatic disease and as such, despite accounting for a mere 2-3% of malignancies, unraveling the mechanisms at play goes beyond improving the prognosis of patients with PMC and promises to greatly enhance our understanding of the metastatic process and carcinogenesis across all cancer types.

Project description:BackgroundCancer of unknown primary (CUP) is a malignant and aggressive tumor whose primary origin is still unknown despite thorough evaluation. CUP can be life-threatening with a median overall survival of less than 1 year based on empirical chemotherapy. Gene detection technology advances the driver gene detection of malignant tumors and the appropriate precise therapy. Immunotherapy has ushered in a new era in cancer therapy, changing the way advanced tumors, including CUP, are treated. Combined with comprehensive clinical and pathological investigations, molecular analysis of the original tissue and detection of potential driver mutations may provide therapeutic recommendations for CUP.Case presentationA 52-year-old female was admitted to hospital for dull abdominal pain, with peripancreatic lesions below the caudate lobe of the liver and posterior peritoneal lymph nodes enlargement. Conventional biopsy under endoscopic ultrasonography and laparoscopic biopsy both revealed poorly differentiated adenocarcinoma based on immunohistochemical series. To help identify tumor origin and molecular characteristics, 90-gene expression assay, tumor gene expression profiling with Next-generation sequencing (NGS) method and Immunohistochemical expression of PD-L1 were employed. Although no gastroesophageal lesions discovered by gastroenteroscopy, the 90-gene expression assay yielded a similarity score and prompted the most likely primary site was gastric/esophagus cancer. NGS revealed high TMB (19.3mutations/Mb) but no druggable driver genes identified. The Dako PD-L1 22C3 assay IHC assay for PD-L1 expression revealed a tumor proportion score (TPS) of 35%. Given the presence of negative predictive biomarkers for immunotherapy, including adenomatous polyposis coli (APC) c.646C>T mutation at exon 7 and Janus kinase 1(JAK1), the patient received immunochemotherapy instead of immunotherapy alone. She was successfully treated with nivolumab plus carboplatin and albumin-bound nanoparticle paclitaxel for six cycles and nivolumab maintenance, which achieved a complete response (CR) maintained for 2 years without severe adverse events.ConclusionsThis case highlights the value of multidisciplinary diagnosis and individual precision treatment in CUP. Further investigation is needed as an individualized treatment approach combining immunotherapy and chemotherapy based on tumor molecular characteristics and immunotherapy predictors is expected to improve the outcome of CUP therapy.

Dataset Information

Metastatic carcinoma of unknown primary with complete metabolic response following sorafenib-based chemotherapy.

Background

Case report

Conclusion

Publications

Metastatic carcinoma of unknown primary with complete metabolic response following sorafenib-based chemotherapy.

Similar Datasets

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