scholarly journals Cancer of Unknown Primary Site Syndrome‐CUP Syndrome - Diagnostic and Therapeutical Dillemas

2014 ◽  
Vol 31 (2) ◽  
pp. 87-94 ◽  
Author(s):  
Ivica Pejčić ◽  
Svetislav Vrbić ◽  
Mirjana Todorović ◽  
Ivan Petković ◽  
Mirjana Balić ◽  
...  

Summary Metastatic carcinomas of unknown primary origin (cancer of unknown primary-CUP) represent 3-5% of all cancers. This term includes all patients presented with metastatic disease in whom the primary site could not have been identified. Despite the use of modern and comprehensive diagnostic techniques and procedures, there is no improvement in efficacy (efficiency) of indentifying the primary site of disseminated disease. That is why a diagnostic procedure should be rational and should include the basic diagnostic examination (analyses) with the aim to define biological and clinical characteristics of diagnosed disease, as well as an optimal therapeutic approach. Although the overall prognosis of the majority of these patients is poor, it is possible, nowadays, to distinguish the subgroups of patients with favorable prognosis. Results of new basic research, better understanding of pathogenesis at the molecular level and introduction of new drugs through clinical trials suggest an advance in this disease treatment and outcome.

2020 ◽  
Vol 48 (2-3) ◽  
pp. 85-88
Author(s):  
Iva Andrašek ◽  
◽  
Mirna Ravlić ◽  
Martina Mikulandra ◽  
Franjo Cmrečak ◽  
...  

Cancer of an unknown primary site is most commonly an aggressive metastatic tumor with a median patient survival of 6 to 9 months. Histologically, it is predominantly adenocarcinoma, and if the primary site is subsequently diagnosed, it is usually the pancreas or lung. Biopsy should be performed whenever possible to classify a tumor of unknown primary origin into one of the following entities: adenocarcinoma, poorly differentiated carcinoma with characteristics similar to adenocarcinoma, squamous cell carcinoma, neuroendocrine carcinoma, poorly differentiated neoplasm. After determining the primary tumor type, the subtype is determined by immunohistochemical staining. In oligometastatic disease, there is a possibility of surgical treatment. Radiotherapy is used as a part of combined modality treatment. Most patients with cancer of unknown primary have an unfavorable prognosis despite multiple chemotherapy agents, and no protocol can be recommended as standard therapy.


2015 ◽  
Vol 87 (5) ◽  
Author(s):  
Angelika Bara ◽  
Piotr Pluta ◽  
Arkadiusz Jeziorski

AbstractCancer of Unknown Primary Origin (CUPO) is defined by the presence of metastatic lesions, diagnosed by means of cytological or pathological evaluation, for which no primary site can be detected during a thorough examination. The clinical investigation, directed at locating the site of the neoplastic lesion, is determined by the results of laboratory tests, imaging procedures, and pathological examinations. It is also essential to conduct a complete medical history and thorough physical examination. The detection of the primary site allowed to introduce specific therapy, which can offer clinical benefits, considering a favorable prognosis.was to assess the range of diagnostic procedures performed in patients with CUPO and efficacy in identifying the primary lesion.Retrospective analysis comprised a group of 29 patients with CUPO, operated between January, 2002 and December, 2011, at the Department of Surgical Oncology, Medical University in Łódź. The study group comprised 16 male and 13 female patients; median age at presentation was 58.3 years (ranging between 30-79 years).Detailed diagnostic management depending on the location of metastatic lesions and their histological type was performed in 20 of the 29 study patients (69%). Considering the remaining 9 (31%) patients detailed diagnostics was not performed, due to the patients' poor general condition. In 55% (11/20) of patients subject to detailed diagnostics, the primary neoplastic lesion was determined.Considering the study group, most patients with cancer of unknown primary origin were characterized by a favorable prognosis, which justified thorough diagnostics, in order to establish the primary neoplastic lesion. The introduction of diagnostic examinations enabled to identify the primary site of the tumor in more than 50% of patients. With the development of imaging methods one can expect improvement of unsatisfactory results, considering the detection of primary neoplastic foci.


Author(s):  
Ciprian Tomuleasa ◽  
Florin Zaharie ◽  
Mihai Stefan Muresan ◽  
Mihai Stefan Muresan ◽  
Laura Pop

Almost one in every three patients with advanced tumors have distant metastasis at the time of clinical diagnosis. In most cases, the primary tumor site is identified immediately, within a few days. But for some patients, the primary lesion cannot be found after the initial clinical assessment. These cases are called cancers of unknown primary origin (CUPs), a clinical diagnosis very difficult to manage by physicians due to the absence of a standard-of-care for the initial therapeutic regimen, as well as due to the impossibility to include these cases in randomized clinical trials. A cancer of unknown primary site is often associated with a poor prognosis as patients are usually treated with a non-selective empirical therapy. In the current paper, we summarize both the diagnostic challenges for patients with a cancer of unknown primary site as well as the current available therapeutic options, with emphasis on the management of this unique disease entity.


2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e18730-e18730
Author(s):  
Xin Liu ◽  
Shiyu Jiang ◽  
Xiaowei Zhang ◽  
Xiaoyan Zhou ◽  
Zhiguo Luo ◽  
...  

e18730 Background: No targeted agents except for drugs against NTRK fusion, dMMR/MSI-H or TMB-H are recommended for the treatment of cancer of unknown primary (CUP), despite of the occurrence of multiple actionable mutations identified by NGS. We aimed to explore the characteristics of circulating tumor DNA (ctDNA) and its value in guiding targeted treatment in combination with predicted cancer types by 90-gene reverse-transcription polymerase chain reaction assay for tissue origin. Methods: 172 treatment-naïve CUP patients with ctDNA testing were retrospectively included between April 2017 and Oct 2020. Of them, 98 patients had primary site predicted. Genetic alterations were reclassified based on their predicted primary site and the oncoKB scale. 153 patients treated with the first-line therapy and available survival data were used to explore prognostic value of detected genetic alterations in ctDNA. Results: We identified 82.6% (142/172) of patients had alterations detected, with the most commonly seen mutations of TP53 (51%), ARID1A (11%), KRAS (10%), RB1 (9%), APC (8%), PI3KCA (8%) and NFE2L2 (7%). The most commonly observed actionable mutations were PIK3CA (n=14, 9.8%), ERBB2 (n=7, 4.9%), BRAF (n=6, 4.2%), MET (n=6, 4.2%) and EGFR (n=5, 3.5%). After introducing predicted primary site in the 98 patients, 6.1% (n=6) of patients upgraded to a Level 1 alteration, 1.0% (n=1) to a Level 2 alteration (Table). In these 7 patients, only one patient with predicted lung cancer and EGFR 19 del received gefitinib with partial response for 5+ months. In multivariate analysis, NFE2L2 (hazard ratio [HR] = 2.96, 95%CI=1.32-6.61, P = .008) and CDKN2A mutation (HR = 2.50, 95%CI=1.26-4.96, P = .009) were independently associated with shorter PFS. Furthermore, NFE2L2 (HR = 4.96, 95%CI=1.98-12.43, P < .001) and CDKN2A mutation (HR = 4.84, 95%CI=1.63-14.40, P = .005) were correlated with worse OS. Conclusions: This is the first attempt to integrate ctDNA sequencing and gene expression profiling for tissue of origin in OncoKB classification schema, resulting in 7.1% (7/98) of the genetic alterations reclassified to level 1 or 2, which might identify patients benefiting from corresponding targeted treatment. NFE2L2 and CDKN2A mutations in ctDNA were associated poor prognosis.[Table: see text]


2007 ◽  
Vol 22 (Suppl) ◽  
pp. S174 ◽  
Author(s):  
Hyung Il Kim ◽  
Sung Hoon Chung ◽  
Jun Eul Hwang ◽  
Sang Ho Kim ◽  
Jae Sook Ahn ◽  
...  

2018 ◽  
Vol 93 (6) ◽  
pp. 575-581
Author(s):  
Chan Keol Park ◽  
Su-Jin Yoo ◽  
In Seol Yoo ◽  
Jinhyun Kim ◽  
Seung Cheol Shim ◽  
...  

2021 ◽  
Vol 11 ◽  
Author(s):  
Murilo Bonatelli ◽  
Isabella Fernandes Fornari ◽  
Priscila Neves Bernécule ◽  
Lara Esquiapatti Pinheiro ◽  
Ricardo Filipe Alves Costa ◽  
...  

IntroductionCancer of unknown primary origin (CUP) is defined as metastatic cancer without identification of the primary site. Considering that only 15–20% of patients with CUP show a favorable outcome, identifying biomarkers may help improve the clinical management of patients who do not respond well to conventional therapies. In this context, the study of the metabolic profile of CUP may pave the way to establish new biomarkers and/or therapeutic targets; therefore, this study aimed to characterize the expression of metabolism-related proteins in CUP.Materials and MethodsThe expression of monocarboxylate transporters MCT1, MCT2 and MCT4, their chaperone CD147, the glucose transporter GLUT1 and the pH regulator CAIX was evaluated by immunohistochemistry in a series of 118 CUP patients, and the results were associated with the available clinicopathological information.ResultsThe metabolism-related proteins MCT1, MCT4, CD147, GLUT1 and CAIX were expressed in a critical portion of the CUP (approximately 20 to 70%). MCT1 and CD147 were both more frequently expressed in cases with lymph nodes as metastasis dominant sites (p = 0.001) as well as in samples from lymph nodes (p <0.001 and p = 0.002, respectively), while MCT1 expression was more frequently expressed in squamous cell carcinomas (p = 0.045). A higher overall survival was observed in patients with tumors positive for GLUT1 and CAIX expression (p = 0.011 and p = 0.041, respectively), but none of the proteins was an independent prognostic factor for overall survival in multivariable analysis.ConclusionThe results suggest that a portion of CUPs present a hyperglycolytic phenotype, which is associated with higher overall survival.


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