How is acute leukemia diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for acute leukemia?

Information about treatment is currently limited for this condition.

Are there clinical trials for acute leukemia?

Yes, there are currently 1577 active clinical trials for acute leukemia registered on ClinicalTrials.gov. Clinical trials test new treatments, procedures, or approaches. Your healthcare provider can help determine if a trial might be appropriate for your situation. Visit the Treatment section of this page for more details.

What complications can arise from acute leukemia?

Acute leukemia can lead to serious complications because it affects the production of healthy blood cells. This can result in issues like infections due to low white blood cell counts, anemia from low red blood cells, and bleeding problems from low platelets. These complications can make it harder for patients to stay healthy and may require additional medical attention.

How does acute leukemia affect daily life?

Living with acute leukemia can be challenging as it may cause fatigue, frequent infections, and other symptoms that impact daily activities. Patients might need to adjust their routines, including taking time off work or school and attending frequent medical appointments. Support from family and friends can be very important during this time.

What is the prognosis for someone with acute leukemia?

The prognosis for acute leukemia can vary widely depending on several factors, including the type of leukemia and how well the patient responds to treatment. Unfortunately, the available information does not provide specific survival rates or outcomes. It's important for patients to discuss their individual situation with their healthcare team for a better understanding.

Are there any specific symptoms unique to acute leukemia?

Currently, information about specific symptoms unique to acute leukemia is limited. However, patients often experience symptoms related to low blood cell counts, such as fatigue, fever, and easy bruising or bleeding. It's crucial for patients to monitor their health and communicate any new or worsening symptoms to their doctor.

Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

acute leukemia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

acute leukemia

MONDO:0010643

Also known as:acute leukaemia (disease)acute leukemia (disease)leukemia, acute, X-linked

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Overview

A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).

TreatmentsNo approved treatments · 1 in pipeline

Clinical Trials174 registered · 97 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

To date, fourteen families with CEBPA-associated familial acute myeloid leukemia (AML) have been reported [, , , , , , , , , , , , ], the majority of which manifest a highly penetrant (80%) AML phenotype. More recently, germline CEBPA pathogenic variants located outside of the N terminal appear less penetrant, with approximately 50% of individuals with a heterozygous germline pathogenic variant developing AML. Given the limited number of family members tested in historical studies, it is possible that the true penetrance of AML may vary . The age of onset of CEBPA-associated familial AML is variable, but appears to be earlier than in sporadic AML. Disease onset has been reported in persons as young as 1.8 years and older than 45 years .

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

CEBPA-associated familial acute myeloid leukemia (AML) should be suspected in individuals with the following clinical and supportive laboratory findings.

Clinical findings

Individuals with AML who also have a family history of AML
Individuals who have developed AML at an early age (50 years)

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for acute leukemia. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for acute leukemia, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for acute leukemia. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Affected individuals. Surveillance for CEBPA-associated familial AML is similar to that for other forms of AML. There are no generally accepted minimal residual disease (MRD) markers in CEBPA-associated AML. Individuals are monitored and evaluated in accordance with administered treatment, clinical course, symptoms, and protocol, if enrolled in clinical trials. When complete remission is achieved and intensification therapy is complete, individuals are monitored with:

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

174 clinical trials registered, 97 recruiting. Interventions under study include drug therapy, other interventions, procedural interventions, and biologic therapy. Pipeline includes 1 PHASE4, 9 PHASE3, 48 PHASE2. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT06315309](https://clinicaltrials.gov/study/NCT06315309)

Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 7:22 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are any of the 174 active clinical trials a good fit for my situation?
→What is the current development status of 5-aza-2'-deoxycytidine, and when might it become available?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about acute leukemia

Acute leukemia is a fast developing blood cancer that begins in the bone marrow, where blood cells are produced. It is marked by a rapid onset, and the abnormal cells, known as blasts, do not mature properly. These blasts can be either myeloid (myeloblasts) or lymphoid (lymphoblasts), disrupting the normal production of healthy blood cells.

Information about symptoms is currently limited for this condition.

Acute leukemia occurs when a single clone of abnormal blood cells rapidly expands. A gene associated with this condition is UBE3A. Detailed causes, risk factors, and genetic contributions are not fully detailed in the available information. Associated genes include CEBPA, DNMT3A, ETV6, FLT3, JAK2.

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GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs of an individual newly diagnosed with CEBPA-associated familial acute myeloid leukemia (AML), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 2. Recommended Evaluations Following Initial Diagnosis in Individuals with CEBPA-Associated Familial Acute Myeloid Leukemia

System/Concern	Evaluation	Comment
AML	Management of younger persons to be directed by relevant specialist teams (e.g., AYA or pediatric hematologists)	AML / Assessment for suitable
HSCT donor	HLA typing virology tests (hepatitis A, B, C, HIV)	CEBPA site-specific testing of family members at risk using either of the following:; Buccal, salivary, or skin DNA
CNS AML	LP if symptoms suggest CNS disease.	The timing of LP in AML is controversial. Treatment- related heart
disease	Cardiac scan in persons w/personal history of (or signs symptoms suspicious for) heart disease in those who have received previous anthracycline therapy	Genetic counseling; Obtain a detailed family history identify relatives who are obligate heterozygotes or potential heterozygotes for a CEBPA pathogenic variant thus at risk for CEBPA-assoc familial AML.

Source: GeneReviews — "CEBPA-Associated Familial Acute Myeloid Leukemia (AML)"

Research Type	Count	% of Total
Research summaries	129	26%
Laboratory research	101	20%
Disease patterns and progression	72	14%
Testing and diagnosis research	55	11%
Patient case studies	49	10%
Clinical study results	46	9%
New treatment approaches	32	6%
Other research	16	3%

Kisho

acute leukemia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Orphan Drug Designations

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Differential Diagnosis

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

acute leukemia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Orphan Drug Designations

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is acute leukemia?

What are the symptoms of acute leukemia?

What causes acute leukemia?

How is acute leukemia diagnosed?

Are there treatments for acute leukemia?

Are there clinical trials for acute leukemia?

What complications can arise from acute leukemia?

How does acute leukemia affect daily life?

What is the prognosis for someone with acute leukemia?

Are there any specific symptoms unique to acute leukemia?

Differential Diagnosis

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications