ROCKVILLE, Md. — Acute myeloid leukemia (AML) is the most common type of acute leukemia in adults. It develops quickly, with symptoms often coming on within just a few weeks, and requires urgent treatment. Despite advances, many patients relapse and outcomes can be poor — making faster, more accurate diagnostic tools critical to patient survival.
Breakthrough studies in hematopathology — including advances in genetic testing, relapse prediction and detection of hidden, disease-defining gene fusions in AML — will be presented at the Association for Molecular Pathology (AMP) 2025 Annual Meeting & Expo, taking place Nov. 11–15 in Boston.
Journalists are invited to attend the meeting in person or sign up for online access to all press materials. Details are available at https://amp25.amp.org/media/media-information/.
Below are just a few of the hematopathology findings that will be shared by leading experts in molecular diagnostics at AMP 2025.
Genetic testing could help predict relapse after stem cell transplant
For many patients with AML, a stem cell transplant from a donor is the best chance at long-term remission. But even after transplant, as many as half of patients relapse, and doctors have few tools to identify who is most at risk. A University of California San Diego study suggests that genetic testing after stem cell transplant may help identify patients who are most likely to relapse.
Researchers reviewed data from 74 patients and used next-generation sequencing to track cancer-related gene mutations at three points: at diagnosis, after chemotherapy and after transplant.
They found that lingering mutations after transplant strongly predicted relapse, particularly in the TET2 and DNMT3A genes. By contrast, patients whose donor cells successfully took over the bone marrow often remained cancer-free — even if tests still picked up very low-level genetic changes, which may reflect harmless background mutations rather than leukemia.
The findings show that combining genetic testing with standard monitoring could give doctors earlier warning and guide follow-up care.
This work was overseen by Drs. Wei Song, M.D., Ph.D., and Forough Sargolzaeiaval, M.D., of UCSD, who will give a presentation about it during a poster session at 3 p.m. on Friday, Nov.14, at the Thomas M. Menino Convention and Exhibition Center in Boston.
New testing method improves detection of hidden genetic drivers in AML
Some cases of AML are defined by specific genetic fusions — rearrangements where pieces of different genes join together and drive the cancer. These fusions can strongly influence diagnosis, treatment and prognosis. But many are “cryptic,” meaning they can’t be detected with traditional methods, such as looking at chromosomes under a microscope.
Researchers at the University of Michigan added an RNA-based fusion test to their standard next-generation sequencing panel for myeloid cancers. Reviewing more than 600 AML cases, they found gene fusions in 15% of patients, including 23 cases (about 4% of all AML samples) where the fusion was missed by conventional cytogenetics. These included important rearrangements involving genes such as NUP98 and KMT2A, which can alter treatment approaches.
The findings show that incorporating RNA-based fusion testing into routine AML diagnostics can reveal hidden, disease-defining gene fusions that otherwise would go undetected, ensuring patients receive a more accurate diagnosis and the most appropriate treatment.
This work was led by first author Dr. Corey Post, M.D., of the University of Michigan, who will give a presentation about it during a poster session at 9:15 a.m. on Friday, Nov. 14, and during a platform presentation at 1:30 p.m. on Saturday, Nov. 15, at the Thomas M. Menino Convention and Exhibition Center in Boston.
New sequencing test improves detection of residual cancer
Scientists at Moffitt Cancer Center have validated a highly sensitive genetic test to track residual disease in patients with AML. The test focuses on changes in the FLT3 gene, which are common in AML and linked to higher relapse risk. Detecting even tiny traces of these mutations can help doctors confirm remission, decide whether a patient should have a stem cell transplant, and intervene earlier if the cancer is returning.
Using deep sequencing, the team showed the test could find FLT3 mutations at extremely low levels — down to 0.0014% — with strong accuracy and reproducibility. These results support the test as a powerful tool for monitoring patients after treatment, giving clinicians greater confidence in disease status and enabling more timely treatment decisions.
This work was led by first author Dr. Jatin Tulsulkar, Ph.D., of Moffitt Cancer Center, who will give a presentation about it during a poster session at 9:15 a.m. on Saturday, Nov. 15, at the Thomas M. Menino Convention and Exhibition Center in Boston.
About AMP
The Association for Molecular Pathology was founded in 1995 to provide structure and leadership to the emerging field of molecular diagnostics. AMP’s more than 3,100 members practice various disciplines of molecular diagnostics, including bioinformatics, infectious diseases, inherited conditions and oncology. Our members are pathologists, clinical laboratory directors, basic and translational scientists, technologists and trainees who practice in a variety of settings, including academic and community medical centers, government and industry. Through the efforts of its Board of Directors, Committees, Working Groups and Members, AMP is the primary resource for expertise, education and collaboration in one of the fastest-growing fields in healthcare. AMP members influence policy and regulation on the national and international levels, ultimately serving to advance innovation in the field and protect patient access to high-quality, appropriate testing. For more information, visit www.amp.org.