Victoria Socha

DocwireNews

Clear cell renal cell carcinoma (ccRCC) is the most common presentation of kidney cancer. The emergence of several approved targeted agents over the past 10 years has significantly improved outcomes in this patient population; however, according to Lucia Nappi, MD, PhD, and colleagues, treatment optimization has been hampered by the lack of predictive biomarkers. In other tumors, circulating tumor DNA (ctDNA) has proven to be an effective and minimally invasive alternative to tissue for profiling tumor genome.Blood samples from patients with metastatic ccRCC were collected for next-generation sequencing of cell free DNA and germline <a href="https://www.docwirenews.com/conference-coverage/2019-hopa/updates-renal-cell-carcinoma/">DNA</a>. The Roche Human Oncology Design panel of 981 genes to a median depth of 937x unique reads was used to perform targeted. Matched formula-fixed paraffin-embedded (FFPE) tissue was available from 14 patients and profiled using the same assay. Results were reported in conjunction with the ASCO 2019 Annual Meeting in an abstract titled Detection of Circulating Tumor DNA in Patients with Metastatic Clear Cell Renal Cell Carcinoma.The researchers analyzed samples from 52 metastatic, treatment-na&iuml;ve patients. <a href="https://abstracts.asco.org/239/AbstView_239_266229.html">Germline mutations</a> were detected in 11% (n=6/52) of the patients. The most frequent abnormalities affected ATM, PALB2, RAD51D, CHEK2, BRCA1. Median ctDNA fraction was 3.9% (range, 2% to 40%), with a median of two mutations per patient. Somatic mutations were detected in 56% (n=29/52) of the samples. Of those, 51% (n=15/29) of the patients harbored RCC-related genes mutations; 10% (n=3/29) had non-coding mutations; and 34% (n=10/29) had alterations in non RCC-associated genes.Median variant allele frequency was 1.9% (range, 1% to 22%). The most frequently altered genes were VHL, BAP1, PBRM1, and TP53, consistent with tissue-based reports. A fully concordant mutation profile was shared in 50% of the patient-matched FFPE tissue samples.The researchers said, &ldquo;We confirmed a high prevalence of germline mutations in patients with ccRCC. The rate of ctDNA detection in metastatic ccRCC appears to be lower than in other metastatic solid tumors. Furthermore, it is not yet clear whether all the detected somatic alterations are strictly ccRCC-ctDNA dependent. Nevertheless, a quarter of patients exhibited clinically informative ccRCC associated alterations in their liquid biopsy. These findings suggest that ctDNA is a promising tool for genomic profiling in a subset of patients with metastatic ccRCC.&rdquo;Source: Nappi L, Bacon J, Annala M, et al. Detection of circulating tumor DNA in patients with metastatic clear cell renal cell carcinoma. Abstract published in conjunction with the American Society of Clinical Oncology 2019 Annual Meeting, May 31-June 4, 2019, Chicago, Illinois.

Jordana Jampel

Cutaneous Melanoma: Sun Protection Behaviors and UV Exposure in Canada

Melanoma

Leah Lawrence

Significant Cardiac Benefit Seen With Ifetroban in Patients With Duchenne Muscular Dystrophy

Neurology

Apitegromab Improved Motor Function in Type 2/3 Spinal Muscular Atrophy

Latest News

Circulating Tumor DNA in Metastatic ccRCC

Oncology

Clear cell renal cell carcinoma (ccRCC) is the most common presentation of kidney cancer. The emergence of several approved targeted agents over the past 10 years has ...

About Us

Editorial Policy

Advertising

Contact Us

eNewsletters

Contribute

Career Center

MashupMD

Blood Cancers Today

Cancer Nursing Today

GU Oncology Now

Urban Health Today

Anemia

Deep Vein Thrombosis

Essential Thrombocythemia

Hemophilia

Immune Thrombocytopenic Purpura

Myelodysplastic Syndromes

Myelofibrosis

Myeloproliferative Neoplasms

Polycythemia Vera

Pulmonary Embolism

Sickle Cell Disease

Thrombocytopenia

Thrombophilia

Thrombosis

Thrombotic Thrombocytopenic Purpura

Venous Thromboembolism

von Willebrand Disease

Heme Today

Acute Kidney Injury

ADPKD

Anemia and Kidney Disease

Chronic Kidney Disease

COVID-19 and Kidney Disease

Diabetes and Hypertension

End-Stage Renal Disease

Gout

Hyperkalemia

IgAN

Kidney Transplantation

Metabolic Acidosis

Nephrology Times

HER2 Breast Cancer

HR Breast Cancer

Triple-Negative Breast Cancer

Genetics & Breast Cancer

Breast Cancers Today

Atherosclerotic Disease

Atrial Fibrillation

Heart Failure

Hypertension

Interventional Cardiology

Lipid Management

Practice Tips With Dr. Lichaa

Preventive Cardiology

Stroke

Cardiology

Breast Cancer

Gynecologic Cancer

Head and Neck Cancer

Skin Cancer

Sleep

Urology

Diabetes

Ophthalmology

— Demodex Blepharitis

Rheumatology

Gastroenterology

Pulmonology

Infectious Diseases

— HIV

Health and Wellness

Lupus

Future of Medicine

Orthopedics

Pharmacology

Career News

More

Conferences

CardioNerds

The Sleep Source With Dr. Morse

Rheumatology Rounds With Dr. Maheswaranathan

Partners

Expert Interviews

Subscribe