scholarly journals You can’t judge a book by its cover or a tumor by its expression profile

2012 ◽  
Vol 2 (1) ◽  
pp. 21
Author(s):  
Steven M. Sorscher ◽  
Theodore Thomas

Expression profiling has shown great promise in matching cancers of unknown primary to likely primary tumors of origin based on patterns of mRNA expression. However, it remains uncertain as to whether even well matched tumors will demonstrate the clinical features, such as rate of progression, of their matched counterparts. In this case report, we note that based on histology, immunohistochemistry and expression profile this patient’s poorly differentiated neuroendocrine tumor would have been expected to grow very rapidly on no therapy. Instead, this cancer was very indolent, with only very little radiographic progression over several years. We believe this report represents a remarkable case of a tumor where features, including expression profile, would not at all have accurately predicted the clinical course seen. While some series have suggested that matching by expression profiling predicts outcome, this case shows a dramatically different result.

2007 ◽  
Vol 60 (1-2) ◽  
pp. 29-36 ◽  
Author(s):  
Dragana Petrovic ◽  
Ljubomir Muzikravic ◽  
Darjana Jovanovic

DEFINITION Cancer of unknown primary (CUP) origin refers to patients who present with histologically confirmed metastatic cancer in whom a detailed medical history, complete physical examination, including pelvic and rectal examination, full blood count and biochemistry, urinalysis and stool occult blood testing, histopathological review of biopsy speimens with the use of immunohistochemistry, chest radiography, computed tomography of the abdomen and pelvis, and in certain cases mammography, fail to identify the primary site. EPIDEMIOLOGY of CUP The cancer of unknown primary accounts for 3%-5% of all human cancers. DIAGNOSIS of CUP The standard diagnostic procedure for the majority of patients includes histopathologic review of biopsy specimens with the use of immunohistochemistry, full blood count, routine biochemistry, fecal occult blood testing, urine testing, chest radiography, and computed tomography of the abdomen and pelvis. The four common histologic diagnoses are: adenocarcinoma (70%), poorly differentiated carcinoma (20%), squamous carcinoma (10%), and poorly differentiated neoplasms (5%). PROGNOSIS of CUP The prognosis for most patients with unknown primary tumors is poor, with survival often less than 6 months from diagnosis. THERAPY of CUP Based on clinical and pathologic features, approximately 40% of patients can be categorized within subsets for which specific treatment has been defined. Empiric therapy is an option for the remaining 60% of patients. CONCLUSION Metastatic tumors of unknown origin have a unique clinical presentation due to a specific biology. Insight into the molecular biology of unknown primary tumors will be essential for the development of more effective treatments.


2021 ◽  
Author(s):  
Ella Nissan ◽  
Uri Amit ◽  
Leo Baron ◽  
Amit Zabatani ◽  
Damian Urban ◽  
...  

Abstract Introduction: We assessed the role of PET/CT in identifying and managing cancer of unknown primary site (CUP). Methods: We reviewed 64 patients' PET/CT scans with CUP performed during 2012–2019. Results: The median age was 65 years. Of 138-FDG-avid lesions, the mean SUVmax was10.6±6.0. Primary tumors (PT) were detected in 28(44%) patients. Detection was positive in only one(10%) patient with squamous cell carcinoma (SCC) histology, compared to 4/14(29%) with poorly differentiated carcinoma, 4/9(44%) with adenocarcinoma, 18/30(60%) of those for whom the origin could be presumed (p= 0.034 for SCC compared to other histologies). The mean age, mean SUVmax, and the distribution of organ involvement were similar between patients with and without discovered PTs, and also between patients with SCC and with the other histologies combined. However, those with SCC were less likely than the others to present with multi-lesion involvement, p<0.001. PET/CT interpretations apparently affected treatment of 8/28(29%) patients with PT detected and in none of the 35 whose PT was not discovered, p<0.001. Conclusion: PET/CT detected PT in almost half of CUP. However, it did not appear beneficial in those with SCC histology. PET/CT showed limited overall value in guiding clinical management but benefited a subgroup with discovered PT.


2016 ◽  
pp. 67-78 ◽  
Author(s):  
Snehal G. Patel ◽  
William M. Lydiatt ◽  
John A. Ridge ◽  
Christine M. Glastonbury ◽  
Suresh K. Mukherji ◽  
...  

2020 ◽  
Author(s):  
Haoyu Ruan ◽  
Yihang Zhou ◽  
Jie Shen ◽  
Yue Zhai ◽  
Ying Xu ◽  
...  

AbstractMetastatic lung cancer accounts for about half of the brain metastases (BM). Development of leptomeningeal metastases (LM) are becoming increasingly common, and its prognosis is still poor despite the advances in systemic and local approaches. Cytology analysis in the cerebrospinal fluid (CSF) remains the diagnostic gold standard. Although several previous studies performed in CSF have offered great promise for the diagnostics and therapeutics of LM, a comprehensive characterization of circulating tumor cells (CTCs) in CSF is still lacking. To fill this critical gap of lung adenocarcinoma LM (LUAD-LM), we analyzed the transcriptomes of 1,375 cells from 5 LUAD-LM patient and 3 control samples using single-cell RNA sequencing technology. We defined CSF-CTCs based on abundant expression of epithelial markers and genes with lung origin, as well as the enrichment of metabolic pathway and cell adhesion molecules, which are crucial for the survival and metastases of tumor cells. Elevated expression of CEACAM6 and SCGB3A2 was discovered in CSF-CTCs, which could serve as candidate biomarkers of LUAD-LM. We identified substantial heterogeneity in CSF-CTCs among LUAD-LM patients and within patient among individual cells. Cell-cycle gene expression profiles and the proportion of CTCs displaying mesenchymal and cancer stem cell properties also vary among patients. In addition, CSF-CTC transcriptome profiling identified one LM case as cancer of unknown primary site (CUP). Our results will shed light on the mechanism of LUAD-LM and provide a new direction of diagnostic test of LUAD-LM and CUP cases from CSF samples.


2016 ◽  
pp. 965-974
Author(s):  
Nicholas Pavlidis ◽  
George Pentheroudakis

This chapter covers cancer of unknown primary site (CUP), and includes information on epidemiology, molecular biology, pathology, and multidisciplinary management of clinicopathological subsets. Previously, these tumours were diagnosed and treated based on clinical presentation, light microscopy and clinical intuition. Today, the majority of cancers of unknown primary site are becoming less unknown, more accurately classified, and appropriately treated by the use of multiplex or genome-wide expression profiling platforms. These techniques allow for precise and correct knowledge of the true tumour origin, leading to more rational and effective treatment. However, there also may be genetic signatures that are primary-independent, pro-metastatic, and possibly CUP-specific.


2015 ◽  
Vol 10 (4) ◽  
pp. 2657-2661
Author(s):  
ANA CEBOLLERO DE MIGUEL ◽  
ROBERTO PAZO CID ◽  
JAVIER MARTINEZ TRUFERO ◽  
ISABEL PAJARES BERNAD ◽  
LOURDES CALERA URQUIZU ◽  
...  

PET-CT ◽  
2005 ◽  
pp. 155-158
Author(s):  
Shahram Bouyadlou ◽  
Peter S. Conti

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