PC06.03 Tumor Mutation Burden - PRO

Checkpoint inhibitor is active against large cell neuroendocrine carcinoma with high tumor mutation burden

BACKGROUND Large cell neuroendocrine tumor (LCNEC) of the lung is a rare and aggressive tumor similar to small cell lung cancer (SCLC). Thus, it is often treated similarly to SCLC in the front-line setting with a platinum doublet. However, treatment for patients beyond the first line remains undefined. CASE PRESENTATION We report the case of a patient with stage IB LCNEC (PD-L1 negative but p...

Tumor Mutation Burden Forecasts Outcome in Ovarian Cancer with BRCA1 or BRCA2 Mutations

BACKGROUND Increased number of single nucleotide substitutions is seen in breast and ovarian cancer genomes carrying disease-associated mutations in BRCA1 or BRCA2. The significance of these genome-wide mutations is unknown. We hypothesize genome-wide mutation burden mirrors deficiencies in DNA repair and is associated with treatment outcome in ovarian cancer. METHODS AND RESULTS The total nu...

Individualized Mutation Detection in Circulating Tumor DNA for Monitoring Colorectal Tumor Burden Using a Cancer-Associated Gene Sequencing Panel

BACKGROUND Circulating tumor DNA (ctDNA) carries information on tumor burden. However, the mutation spectrum is different among tumors. This study was designed to examine the utility of ctDNA for monitoring tumor burden based on an individual mutation profile. METHODOLOGY DNA was extracted from a total of 176 samples, including pre- and post-operational plasma, primary tumors, and peripheral ...

Gender Disparity and Mutation Burden in Melanoma

Congenital plasminogen deficiency caused by a Ser572 to Pro mutation.

We used a polymerase chain reaction (PCR) strategy and restriction fragment polymorphism analysis to evaluate all 19 exons of the plasminogen (PLG) gene in a Japanese patient with congenital PLG deficiency and her family members. She presented with cerebral infarction. Sequence analysis following amplification of each exon and its flanking regions showed a single T to C transition in exon 14, w...