New Myelofibrosis Guidelines Recommend Expanded Genetic Testing at Diagnosis

Myelofibrosis is a rare, life-threatening blood cancer affecting up to six per 100,000 people. The disease causes scarring in the bone marrow, limiting the production of healthy blood cells and potentially leading to anemia, spleen enlargement, blood clots, and progression to acute myeloid leukemia. New care recommendations now emphasize broader molecular testing and earlier consultation for stem cell transplantation.

The American Society of Hematology has released evidence-based guidelines for the management of myelofibrosis, focusing on expanded molecular testing at diagnosis, early transplant referral, appropriate use of Janus kinase (JAK) inhibitors, and aspirin therapy in selected patients. The guidance aims to reduce variability in treatment decisions for this rare, progressive disease.

Image: The recommendations include extended molecular testing at diagnosis to identify high-risk mutations and guide care. (Image Credit: Adobe Stock)

The recommendations support extended molecular testing to identify high-risk mutations and help guide treatment. They also advise early stem cell transplant consultation for higher-risk patients who are receiving and responding to JAK inhibitors, which can reduce spleen enlargement and other disease-related symptoms.

The guidelines include 10 recommendations covering molecular testing, transplant management, anemia treatment, JAK inhibitor use, and low-dose aspirin for patients with the JAK2 V617F mutation. JAK inhibitors are recommended for lower-risk patients with disease-related symptoms but not for higher-risk patients without such symptoms. The guidance was developed through a rigorous review process by a multidisciplinary panel that included myelofibrosis and transplant specialists, methodology experts, and a patient and caregiver with lived experience.

The guidance was published in Blood Advances on October 14, 2026. It also identifies remaining research needs, including better prediction of which patients will benefit from specific treatments, improved approaches to myelofibrosis-related anemia, and clearer timing for transplant. 

“These recommendations address questions that routinely come up for clinicians and patients managing myelofibrosis, and our hope is that they will enable hematologists to more confidently deliver better care to their patients. That said, important gaps in evidence remain, and we hope the questions we asked can help set a future research agenda to further improve care for patients with this disease,” said guideline panel chair Brady Stein, M.D., professor of medicine at Northwestern University's Feinberg School of Medicine.

Related Links
American Society of Hematology
Northwestern University's Feinberg School of Medicine