Acute megakaryoblastic leukemia

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:518C94.2
Who is this for?
Show terms as
4FDA treatments48Specialists8Treatment centers1Financial resources

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
Report missing data

Overview

Acute megakaryoblastic leukemia (AMKL) is a rare and aggressive type of blood cancer. It is also sometimes called acute myeloid leukemia, M7 subtype, or AML-M7. In this disease, the bone marrow — the spongy tissue inside bones that makes blood cells — starts producing large numbers of abnormal, immature cells called megakaryoblasts. These are early versions of the cells that normally make platelets, which help blood clot. When these abnormal cells multiply out of control, they crowd out healthy blood cells, leading to serious problems throughout the body. Because healthy red blood cells, white blood cells, and platelets are reduced, people with AMKL often feel very tired, get infections easily, and bleed or bruise more than normal. The disease can affect people of any age, but it is especially seen in young children, particularly those under 3 years old. Children with Down syndrome (trisomy 21) have a significantly higher risk of developing this type of leukemia. Treatment typically involves intensive chemotherapy, and in some cases a bone marrow transplant (stem cell transplant) may be recommended. Children with Down syndrome who develop AMKL often respond better to chemotherapy than children without Down syndrome. Research into targeted therapies is ongoing, and outcomes vary depending on age, genetics, and how well the disease responds to initial treatment.

Also known as:

Key symptoms:

Extreme tiredness or fatiguePale skinEasy bruising or unusual bruisingBleeding that is hard to stop (such as nosebleeds or bleeding gums)Frequent infections or feversSwollen lymph nodes (lumps in the neck, armpits, or groin)Enlarged spleen or liver causing belly pain or fullnessBone or joint painShortness of breathLoss of appetite and unexplained weight lossNight sweatsSmall red or purple spots on the skin (petechiae)

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

FDA & Trial Timeline

4 events
May 2022Tibsovo: FDA approved

In combination with azacitidine or as monotherapy for the treatment of newly diagnosed acute myeloid leukemia (AML) with a susceptible isocitrate dehydrogenase-1 (IDH1) mutation as detected by an FDA-approved test in adults 75 years or older, or who have comorbidities that preclude use of intensive induction chemotherapy

FDAcompleted
Nov 2018

XOSPATA: FDA approved

XOSPATA is indicated for the treatment of adult patients who have relapsed or refractory acute myeloid leukemia (AML) with a FMS-like tyrosine kinase 3 (FLT3) mutation as detected by an FDA-approved test.

FDAcompleted
Nov 2018

DAURISMO: FDA approved

DAURISMO is indicated, in combination with low-dose cytarabine, for the treatment of newly-diagnosed acute myeloid leukemia (AML) in adult patients who are >75 years old or who have comorbidities that preclude use of intensive induction chemotherapy.

FDAcompleted
Aug 2017Chemotherapy, Total Body Irradiation, and Post-Transplant Cyclophosphamide in Reducing Rates of Graft Versus Host Disease in Patients With Hematologic Malignancies Undergoing Donor Stem Cell Transplant

Roswell Park Cancer Institute — PHASE1

TrialACTIVE NOT RECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

4 available

Idamycin

Idarubicin HCl for injection· Adria Laboratories, Inc.■ Boxed Warning

IDAMYCIN PFS is indicated for the treatment of adult patients with acute myeloid leukemia (AML) as a component of a combination chemotherapy regimen

Tibsovo

IVOSIDENIB· Servier Pharmaceutical LLC■ Boxed WarningOrphan Drug
In combination with azacitidine or as monotherapy for the treatment of newly diagnosed acute myeloid leukemia (AML) with a susceptible isocitrate dehydrogenase-1 (IDH1) mutation as detected by an FDA-

In combination with azacitidine or as monotherapy for the treatment of newly diagnosed acute myeloid leukemia (AML) with a susceptible isocitrate dehydrogenase-1 (IDH1) mutation as detected by an FDA-approved test in adults 75 years or older, or who have comorbidities that preclude use of intensive induction chemotherapy

XOSPATA

gilteritinib· Astellas Pharma US, Inc.■ Boxed WarningOrphan Drug
XOSPATA is indicated for the treatment of adult patients who have relapsed or refractory acute myeloid leukemia (AML) with a FMS-like tyrosine kinase 3 (FLT3) mutation as detected by an FDA-approved t

XOSPATA is indicated for the treatment of adult patients who have relapsed or refractory acute myeloid leukemia (AML) with a FMS-like tyrosine kinase 3 (FLT3) mutation as detected by an FDA-approved test.

DAURISMO

Glasdegib· Pfizer, Inc.■ Boxed WarningOrphan Drug
DAURISMO is indicated, in combination with low-dose cytarabine, for the treatment of newly-diagnosed acute myeloid leukemia (AML) in adult patients who are >75 years old or who have comorbidities that

DAURISMO is indicated, in combination with low-dose cytarabine, for the treatment of newly-diagnosed acute myeloid leukemia (AML) in adult patients who are >75 years old or who have comorbidities that preclude use of intensive induction chemotherapy.

No actively recruiting trials found for Acute megakaryoblastic leukemia at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Acute megakaryoblastic leukemia community →

Specialists

Showing 25 of 48View all specialists →
MN
Mathieu Neault
Specialist
2 Acute megakaryoblastic leukemia publications
CC
Caroline Capdevielle
Specialist
2 Acute megakaryoblastic leukemia publications
SS
Sarah St-Amand
Specialist
2 Acute megakaryoblastic leukemia publications
FM
Frédérick A Mallette
Specialist
2 Acute megakaryoblastic leukemia publications
TG
Tanja A Gruber
PALO ALTO, CA
Specialist
3 Acute megakaryoblastic leukemia publications
SN
Sucha Nand
MAYWOOD, IL
Specialist
PI on 1 active trial1 Acute megakaryoblastic leukemia publication
FG
Francis Giles
SAN ANTONIO, TX
Specialist
PI on 4 active trials
JK
Jonathan Kolitz
LAKE SUCCESS, NY
Specialist
PI on 1 active trial
NM
Norman J. Lacayo, MD
PALO ALTO, CA
Specialist
PI on 3 active trials
CM
Cheryl L. Willman, MD
ALBUQUERQUE, TX
Specialist
PI on 2 active trials
ML
Mark Litzow
ROCHESTER, MN
Specialist
PI on 1 active trial5 Acute megakaryoblastic leukemia publications
TP
Thomas R. Chauncey, MD, PhD
SEATTLE, WA
Specialist
PI on 3 active trials
MS
Mikkael Sekeres
MIAMI, FL
Specialist
PI on 1 active trial3 Acute megakaryoblastic leukemia publications
RP
Roland Walter, MD, PhD
SEATTLE, WA
Specialist
PI on 2 active trials
EA
Eyal Attar
BOSTON, MA
Specialist
PI on 1 active trial2 Acute megakaryoblastic leukemia publications

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Financial Resources

1 resources
DAURISMO(Glasdegib)Pfizer, Inc.

Travel Grants

No travel grants are currently matched to Acute megakaryoblastic leukemia.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Acute megakaryoblastic leukemiaForum →

No community posts yet. Be the first to share your experience with Acute megakaryoblastic leukemia.

Start the conversation →

Latest news about Acute megakaryoblastic leukemia

5 articles
NewsZHONGHUA XUE YE XUE ZA ZHI = ZHONGHUA XUEYEXUE ZAZHIApr 16, 2026
[Acute megakaryoblastic leukemia with CBFA2T3::GLIS2 fusion gene: 3 cases report and literature review].
This study retrospectively analyzed the clinical manifestations, genetic characteristics, treatment courses, and prognoses of patients with pediatric acute mega
NewsEJHAEMApr 10, 2026
Identification of an Elusive CBFA2T3::GLIS2 Fusion Variant in Acute Megakaryoblastic Leukemia by Whole Genome Sequencing.
Advancements in genomic profiling have significantly improved the classification and treatment strategies for acute myeloid leukemia (AML). However, widely util
NewsTRENDS IN MOLECULAR MEDICINEApr 9, 2026
BH3 mimetic therapies for CBFA2T3::GLIS2 pediatric acute megakaryoblastic leukemia.
Pediatric acute megakaryoblastic leukemia (AMKL) associated with the CBFA2T3::GLIS2 (CG2) gene fusion is distinctive by virtue of its aggressiveness and ability
NewsBLOODApr 8, 2026
Polycomb repressive complex 2 insufficiency underlies myeloid leukemia in Down syndrome.
Children with Down syndrome (DS) have an elevated risk of developing myeloid leukemia in DS (ML-DS). In addition to mutations in GATA1, which generate the trunc
NewsBMC PEDIATRICSMar 27, 2026
Acute megakaryoblastic leukemia with myeloid sarcoma among a pediatric patient harbouring RBM15::MRTFA: a case report and literature review.
Acute megakaryoblastic leukemia with myeloid sarcoma among a pediatric patient harbouring RBM15::MRTFA: a case report and literature review.
See all news about Acute megakaryoblastic leukemia

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Does my child or I have the Down syndrome-related form of AMKL, and how does that affect the treatment plan?,What specific genetic changes were found in the leukemia cells, and what do they mean for prognosis?,Is a bone marrow transplant recommended, and if so, when and from what type of donor?,Are there any clinical trials available that might be appropriate for our situation?,What are the most important warning signs of infection or bleeding that should prompt an emergency room visit?,What are the possible long-term side effects of the chemotherapy drugs being used?,What support services — such as social work, psychology, or school support — are available to help our family during treatment?

Common questions about Acute megakaryoblastic leukemia

What is Acute megakaryoblastic leukemia?

Acute megakaryoblastic leukemia (AMKL) is a rare and aggressive type of blood cancer. It is also sometimes called acute myeloid leukemia, M7 subtype, or AML-M7. In this disease, the bone marrow — the spongy tissue inside bones that makes blood cells — starts producing large numbers of abnormal, immature cells called megakaryoblasts. These are early versions of the cells that normally make platelets, which help blood clot. When these abnormal cells multiply out of control, they crowd out healthy blood cells, leading to serious problems throughout the body. Because healthy red blood cells, whit

How is Acute megakaryoblastic leukemia inherited?

Acute megakaryoblastic leukemia follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

Which specialists treat Acute megakaryoblastic leukemia?

25 specialists and care centers treating Acute megakaryoblastic leukemia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.

What treatment and support options exist for Acute megakaryoblastic leukemia?

2 patient support programs are currently tracked on UniteRare for Acute megakaryoblastic leukemia. See the treatments and support programs sections for copay assistance, eligibility, and contact details.