How Does Acute Leukemia Present?

Patient Presentation
A 16-year-old female came to the emergency room after tripping on a loose piece of carpeting and falling down several stairs hitting her head. Her mother was concerned after the girl stated she was dizzy after the fall. The dizziness stopped on the way to the hospital. She had no loss of consciousness, or other mental status changes and she remembered all events before and after the fall.
Her past medical history, family history, and review of systems were normal.
The pertinent physical exam showed her mental status examination to be alert and oriented to time, place, person and situation. Her neurological examination was normal. Her skin showed some petechiae on her calves where she had had tight fitting socks.
As her presentation was identified as a trauma visit, she had a basic laboratory evaluation completed. The physician was surprised when the laboratory called and said the complete blood count had many atypical lymphocytes that all looked the same on the blood smear. The platelet count was also decreased at 100,000 /mm2.
After reviewing the blood smear, the physician was suspicious that the atypical lymphocytes were blast cells.
She arranged for transfer to a local children’s hospital where the diagnosis of acute lymphoblastic leukemia was confirmed.

The diagnosis of acute leukemia used to be a death sentence for the patients and families. According to some of the pre-eminant oncologists of the 20th century, Drs. Blackfan, Diamond and Leister,
“The course of leukemia varies widely from the most acute form in which symptoms progress rapidly to a fatal termination in within one to four weeks, to the subacute and chronic forms which may continue for weeks to months or rarely for a few years.”
“Because the disease is uniformly fatal, treatment should be directed toward modifying the symptoms so that the patient may enjoy relative comfort.”

Today, thanks to years of productive research and clinical trials, ~80% of children and adolescents with acute lymphoblastic leukemia, and ~50% of those with acute myeloid leukemia can be cured.

After the diagnosis of acute leukemia is made, the prognostic risk factors must be defined as they will determine the type of treatment necessary so the patient is not under- or over-treated.
These major risk factors include clinical features, genetic abnormalities in the leukemic cells, pharmacodynamics, pharmacogenetics, and early treatment response.

On the basis of prognostic factors, patients generally are assigned to one of three risk groups – standard risk, high risk or very high risk. Some groups advocate for a fourth group – very low risk. The group assigned generally determines the intensity of post-remission treatment the patient receives including the possibility of bone marrow transplantation.
Male sex and black race are associated with a higher risk but the reasons for this appear to be multifactorial and the effectiveness of treatment for these groups appears to be improving.

B-Cell Acute Lymphoblastic Leukemia Risk Factors

  • Favorable
    • Hyperdiploidy (> 50 chromosomes)
    • TEL-AML1 fusion
    • Trisomies 4,10, and 17
  • Unfavorable
    • Poor early response
    • MLL rearrangement in infants
    • Philadelphia chromosome
    • Leukocyte count > 50 x 109/L
    • Age > 10 years at diagnosis

T-Cell Acute Lymphoblastic Leukemia Risk Factors

  • Favorable
    • HOX11 overexpression
    • t(11;19) with MLL-ENL fusion
  • Unfavorable
    • Poor early response
    • Low dose-intensity chemotherapy

Learning Point
Presenting symptoms and signs of acute leukemia include:


  • Anorexia
  • Bleeding manifestations – bleeding, bruising, petechiae, purpura
  • Dyspnea
  • Fainting
  • Fever
  • Headache
  • Infection
  • Mass – secondary to metastasis
  • Mental status changes
  • Oliguria or anuria
  • Pain – abdominal, bone, joint
  • Pallor
  • Palpitations
  • Skin changes – nodules, urticaria
  • Seizures
  • Superior vena cava syndrome
  • Visual changes
  • Weight loss


  • Anemia
  • Cranial neuropathies
  • Disseminated intravascular coagulation,
  • Hepatosplenomegaly
  • Hyphema
  • Idiosyncratic
  • Lymphadenopathy
  • Mediastinal mass
  • Neutropenia
  • Papilledema
  • Renal failure
  • Thrombocytopenia

Questions for Further Discussion
1. What are the presentations for intracranial malignancies?
2. What are the presentations for abdominal malignancies?
3. What are the presentations for thoracic malignancies?

Related Cases

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Information prescriptions for patients can be found at Pediatric Common Questions, Quick Answers for this topic: Leukemia.

To view current news articles on this topic check Google News.

Atlas of the Blood in Children. Blackfan KD, Diamond LK, Leister CM. The Commonwealth Fund. 1944;119-120.

Stockman JA. Corden TE. Kim JJ. Pediatric Book of Lists. Mosby-Year Book, St. Louis, MO. 1991:233.

Cohen PS. Cancer in Children in Pediatrics A Primary Care Approach. Berkowitz CD. edit. W.B. Saunders, Philadelphia, PA. 1996:445-451.

Pui C, Schrappe M, Ribeiro RC, Niemeyer CM. Childhood and Adolescent Lymphoid and Myeloid Leukemia. Hematology. 2004:118-45. Available from the Internet at:

Donna M. D’Alessandro, MD
Associate Professor of Pediatrics, Children’s Hospital of Iowa

July 12, 2005