Next-generation sequencing and the clinical diagnosis of pancreatic cysts

Martha B. Pitman, MD, from the Department of Pathology, Massachusetts General Hospital, Harvard Medical School, in Boston, Massachusetts, USA discusses this Original Article “Impact of next-generation sequencing on the clinical diagnosis of pancreatic cysts.”

This study assesses the impact of testing pancreatic cyst fluid for genetic mutations on the clinical impression of cyst etiology based on imaging and CEA biochemical testing.

This study is important because the current method of diagnosing and managing patients with pancreatic cysts is based on tests with low accuracy (imaging features and CEA analysis).

Figure 1. Anchored multiplexed polymerase chain reaction for targeted RNA and DNA sequencing.31 dA, eoxyadenosine; T, deoxythymidine; SPRI, solid phase reversible immobilization; PCR, polymerase chain reaction; GSP1, gene-specific primer.

The results of this study show that by testing pancreatic cyst fluids with next-generation sequencing, an increasingly cost-effective test, that detection of KRAS and GNAS mutations provide evidence of a mucinous etiology with GNAS mutations supporting a specific diagnosis of an IPMN when the conventional testing methods of imaging features and CEA analysis do not. The NGS analysis provides diagnostic value to the FNA procedure, precluding the need for repeat testing in the immediate term and providing clinical guidance for management.

Although KRAS and GNAS mutations do not provide information regarding the grade of dysplasia, cytological analysis of cells present in the fluid can do that. NGS may, however, detect mutations that change the clinical impression as shown in our study, and may also detect mutations known to be associated with transformation to a high-risk lesion warranting excision. NGS should not be looked at as an independent test for diagnosis of cyst type and grade, but as an adjunct to cytological and biochemical testing. Validation of the value of NGS testing and its value relative to cost would be a welcomed study.

Read the abstract online.

The information presented in Endoscopedia reflects the opinions of the authors and does not represent the position of the American Society for Gastrointestinal Endoscopy (ASGE). ASGE expressly disclaims any warranties or guarantees, expressed or implied, and is not liable for damages of any kind in connection with the material, information, or procedures set forth.

Leave a Comment

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s