Gene Fusion Testing in Blood Cancers

Elizabeth McMahon
0:02

Coming up, a new CAP proficiency test helps labs evaluate abnormal gene fusion in blood cancers. Plus, how a minor data entry mistake for a sickle cell patient had major clinical consequences. This is Path News Network Daily Edition from the College of American Pathologists. I'm Elizabeth McMahon. It's Thursday, August 27th. Patients wear wristbands or state their name and date of birth repeatedly when they receive care. Identification is the cornerstone of patient care and safety, so when mistakes happen, they can have life-threatening consequences. That was the case of a 16-year-old patient with sickle cell disease whose story is featured in the latest episode of the CAP's Horror Stories in Pathology Informatics podcast. The teenager came to the emergency room with low blood pressure and yellowing of the eyes. His mother told doctors that his gallbladder was removed less than two weeks before, but his chart had no record of it or the blood transfusions he'd received. Dr. Mandy O'Leary, Director of Pathology Informatics at Moffit Cancer Center, takes the story from there.

Dr. Mandy O'Leary
1:20

The doctor asked for some further investigation, and that investigation revealed that the patient's name had been misspelled during registration for the colosystectomy eight days prior, and that a new patient record had been created at that time. This new medical record contained the documentation for the patient's recent hospitalization for the surgical procedure and the current encounter in the emergency department. Unfortunately, the new medical record which was created did not contain the patient's history of sickle cell disease, nor did it contain any prior history from blood bank testing, like his antibody history.

Elizabeth McMahon
1:58

The podcast highlights how data entry errors can have major clinical consequences and looks at several strategies to prevent them. In blood cancers, genes can fuse in RNA from the blood or bone marrow, causing the disease to grow. For years, labs used individual tests to detect fusion variants driving cancers. But next generation sequencing has streamlined the process, providing critical information in a single, less invasive test.

Dr. Mark Ewalt
2:29

We've been able to develop these tests that are able to detect lots and lots of fusions at one time. And this has the benefits for laboratories of requiring less input material if you're doing one test than doing multiple tests, so potentially less collection from patients. Also, it's going to give them a more comprehensive result.

Elizabeth McMahon
2:48

That's Dr. Mark Ewalt, associate attending physician at Memorial Sloan Kettering Cancer Center in New York. He says that the CAP's new RNA fusions and hematologic malignancies proficiency test helps labs demonstrate that their testing is consistent and comprehensive.

Dr. Mark Ewalt
3:07

It allows labs to have a standardized way to assess their quality rather than having to either do an internal proficiency where they are retesting samples that they've had themselves, or having to find another laboratory to do a sample swap with for proficiency testing.

Elizabeth McMahon
3:23

The RNA Fusions and Hematologic Malignancies Test is one of three new proficiency and external quality assessment programs in genetics and molecular pathology now available for order for 2027 delivery at the CAP's Proficiency Testing Section at the Laboratory Qualities Solutions page. From molecular pathology to immunotherapy and targeted treatments, advances in cancer are generating data that's strengthening research and treatment. As CAP 26 gets underway on October 2nd, join leaders from pathology, oncology, and surgery at the WIN Las Vegas for a one-day summit on the future of cancer data. The day will include sessions on AI opportunities, CAP electronic cancer protocols, informatics tools, and others. There will be expert presentations, case examples, and discussions on how pathology data can guide cancer care. And finally, if your lab meetings have started feeling a little stale, why not start with some improv? That's one suggestion in a recent Nature article on powering up lab meetings and getting research discussions flowing. The improv idea comes from Northern Illinois University ecologists who add levity to their lab meetings by asking members to present slides they've never seen before. There are other ways to make people more comfortable. For example, a Duke University cell biologist says his lab members can post comments before meetings to give introverts, international trainees, and anyone uncomfortable asking questions a way to contribute. Other labs share food and book recommendations and even discuss mistakes as part of their routines. That's all for today's Daily Edition. Be sure to check the show notes for more information on the CAP's new RNA fusions and hematologic malignancies proficiency test and the Cancer Data Summit. Got a story you'd like us to cover on the Daily Edition? Write to us at stories at Cap.org. We're back at 5 a.m. Eastern for another episode of the Daily Edition. I'm Elizabeth McMahon. Have a great day.