Genomic characterisation of two cancers of unknown primary cases supports a kidney cancer origin.

07:00 EST 1st January 2000 | BioPortfolio

Summary of "Genomic characterisation of two cancers of unknown primary cases supports a kidney cancer origin."

Cancer of unknown primary (CUP) comprises of 3-5% of new cancer diagnoses in the USA. Diagnostic work up typically includes CT of the chest, abdomen and pelvis, and histopathological review of tissue specimens. These measures are neither sensitive nor specific in determining tissue of origin (ToO) of primary tumours and, therefore, are unable to guide therapy. We present two cases of CUP for which we utilised ultra-deep genomic sequencing to identify the candidate ToO and to propose treatment. Patient 1 presented with metastases involving the lung, lymph nodes and bone. Patient 2 presented with an acute pathological fracture of the T7 vertebral body and metastases involving the bone, lymph nodes and soft tissue. No primary renal mass was found. Sequencing revealed SETD2 and NF2 mutations, and heterozygous loss of the short arm of chromosome 3 (3p). Mutations in conjunction with clinicopathological features strongly support a diagnosis of renal cell carcinoma. Both patients initially responded to mTORC1 inhibition therapy.


Journal Details

This article was published in the following journal.

Name: BMJ case reports
ISSN: 1757-790X


DeepDyve research library

PubMed Articles [22871 Associated PubMed Articles listed on BioPortfolio]

Trends in Risks for Second Primary Cancers Associated With Index Human Papillomavirus-Associated Cancers.

In the last 4 decades, survival among patients with human papillomavirus (HPV)-associated cancers has improved, while the incidence of these cancers has increased among younger cohorts. Among survivor...

Integrated Analysis of Genetic Ancestry and Genomic Alterations across Cancers.

Disparities in cancer care have been a long-standing challenge. We estimated the genetic ancestry of The Cancer Genome Atlas patients, and performed a pan-cancer analysis on the influence of genetic a...

Abnormal oxidative metabolism in a quiet genomic background underlies clear cell papillary renal cell carcinoma.

While genomic sequencing routinely identifies oncogenic alterations for the majority of cancers, many tumors harbor no discernable driver lesion. Here, we describe the exceptional molecular phenotype ...

Liquid biopsy: a new diagnostic, predictive and prognostic window in cancers of unknown primary.

Cancer of unknown primary (CUP) is a heterogeneous group of metastatic cancers characterised by early dissemination of metastases in the absence of any identifiable primary site. Most patients with CU...

Simultaneous metastasized primary unknown signet ring cell carcinoma of the cervical lymph node and mucoepidermoid carcinoma of the parotid gland as double cancers.

Lymph node metastasis from signet ring cellcarcinoma (SRCC) primary unknown is extremely rare. We here report a case of primary-unknown SRCC that metastasized to the cervical lymph nodes, co-existing ...

Clinical Trials [9988 Associated Clinical Trials listed on BioPortfolio]

Identifying Genomic Mutations of Multiple Primary Lung Cancers by Circulating Tumor DNA

Targeted next generation sequencing (NGS) provides a promising method for diagnostic purposes by enabling the simultaneous detection of multiple gene mutations. This study is to evaluate t...

Paclitaxel/Carboplatin Plus Bevacizumab/Erlotinib in the First Line Treatment of Carcinoma of Unknown Primary Site

We will evaluate the feasibility, toxicity, and effectiveness of combination chemotherapy (paclitaxel/carboplatin)plus combination targeted therapy (bevacizumab/erlotinib)in the first line...

Targeted Genomic Analysis of Blood and Tissue Samples From Patients With Cancer

This research trial studies the use of targeted genomic analysis of blood and tissue samples from patients with cancer. Genomic sequencing is a laboratory method that is used to determine ...

Study to Assess the Activity of Molecularly Matched Targeted Therapies in Select Tumor Types Based on Genomic Alterations

With the increased availability of next-generation sequencing, oncologists are starting to incorporate genomic profiling into routine care of cancer patients. If a genomic alteration is id...

Genomic Markers for Measuring Metastatic Risk in Breast Cancer Following Primary Treatment

The primary aim of the study is to identify genomic markers as biomarkers of response to chemotherapy among patients with invasive breast cancer. The secondary aim of this study is to use...

Medical and Biotech [MESH] Definitions

Mucocellular carcinoma of the ovary, usually metastatic from the gastrointestinal tract, characterized by areas of mucoid degeneration and the presence of signet-ring-like cells. It accounts for 30%-40% of metastatic cancers to the ovaries and possibly 1%-2% of all malignant ovarian tumors. The lesions may not be discovered until the primary disease is advanced, and most patients die of their disease within a year. In some cases, a primary tumor is not found. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1685)

Tumors or cancers of the KIDNEY.

Metastases in which the tissue of origin is unknown.

Distinct units in some bacterial, bacteriophage or plasmid GENOMES that are types of MOBILE GENETIC ELEMENTS. Encoded in them are a variety of fitness conferring genes, such as VIRULENCE FACTORS (in "pathogenicity islands or islets"), ANTIBIOTIC RESISTANCE genes, or genes required for SYMBIOSIS (in "symbiosis islands or islets"). They range in size from 10 - 500 kilobases, and their GC CONTENT and CODON usage differ from the rest of the genome. They typically contain an INTEGRASE gene, although in some cases this gene has been deleted resulting in "anchored genomic islands".

Inflammation of the interstitial tissue of the kidney. This term is generally used for primary inflammation of KIDNEY TUBULES and/or surrounding interstitium. For primary inflammation of glomerular interstitium, see GLOMERULONEPHRITIS. Infiltration of the inflammatory cells into the interstitial compartment results in EDEMA, increased spaces between the tubules, and tubular renal dysfunction.

Quick Search


DeepDyve research library

Relevant Topics

Renal disease
Chronic kidney disease (CKD), also known as chronic renal disease, is a progressive loss in renal function over a period of months or years. The symptoms of worsening kidney function are non-specific, and might include feeling generally unwell and experi...

Cancer Disease
Cancer is not just one disease but many diseases. There are more than 100 different types of cancer. Most cancers are named for the organ or type of cell in which they start - for example, cancer that begins in the colon is called colon cancer; cancer th...

Searches Linking to this Article