How We Diagnose Acute Lymphoblastic Leukemia

Expert Care and Treatment for Leukemia and Related Disorders

Dana-Farber Brigham Cancer Center’s Adult Leukemia Program within the Hematologic Oncology Treatment Center includes hematologists, medical oncologists, pathologists, and radiation therapists who specialize in treating patients with all types of leukemia and related blood and bone marrow disorders.

Your care team will collaborate to develop a comprehensive, personalized treatment plan that offers the most advanced therapies and an array of supportive resources.

Adult Leukemia Program

How Is Acute Lymphoblastic Leukemia Diagnosed?

Acute Lymphoblastic Leukemia (ALL) is a rare disease in adults so it is important to be seen at a high-volume leukemia program like Dana-Farber Brigham Cancer Center where clinicians and pathologists are familiar with your condition.

Diagnosis is generally through a bone marrow biopsy or a lymph node biopsy. Our hematopathologists (pathologists who specialize in blood disorder) apply highly specialized tests including pathology, flow cytometry, and various genetic profiling techniques to fully characterize your disease. Your diagnostic tests are conducted on site and returned rapidly to your clinician who can interpret the results and make a personalized treatment recommendation. Your clinician may discuss treatments including chemotherapy, clinical trials, and/or transplant referral as appropriate. Our team of clinicians and pathologists have tremendous expertise in ALL and work together closely.

Initial Diagnosis

A diagnosis of leukemia is usually suspected based on symptoms and abnormal blood counts. If findings are suspicious, a patient will typically undergo a bone marrow aspirate and biopsy to evaluate the bone marrow (the blood factory) to confirm the diagnosis.

Bone Marrow Biopsy

This procedure is done in the office or the hospital room. A clinician uses local anesthetic to numb the posterior iliac crest (back of the hip). A needle is used to obtain a liquid aspirate sample and a small core biopsy sample of the bone marrow. The samples obtained are analyzed by specialized hematopathologists to confirm the diagnosis and conduct various tests to characterize your disease.

Molecular and Genomic Tests

We have unique expertise in interpreting genetic tests and translating that data into an action plan. Often, patients are eligible for certain clinical trials based on the characteristics of their disease.

  • Cytogenetic analysis – Rapid, on-site analysis of your chromosomes.
  • Molecular profiling – Our patients have access to several molecular tests run on site. These include BCR-ABL fusions assays to identify the Philadelphia Chromosome. In addition, our patients have access to a Rapid Heme Panel – a next-generation test to identify mutations or DNA alterations in 95 genes that are frequently mutated in blood cancers. This test was developed at Dana-Farber Brigham Cancer Center and provides results in a matter of days, which helps inform treatment decisions.
  • Flow Cytometry – We use flow cytometry to determine minimal residual disease (MRD) at critical time points during the treatment to help guide treatment decisions.

Lymph Node or Tissue Biopsy

In some patients, ALL presents in places other than the bone marrow and may require a biopsy.

Spinal Tap or Lumbar Puncture

In this procedure, a small needle is placed into the lower back, and a small amount of cerebral spinal fluid is removed. This sample is tested for leukemia cells to determine if the leukemia has spread to the central nervous system. At the same time, a small amount of chemotherapy may be injected into the central nervous system to treat any leukemia cells that might be present in the spinal fluid.

A quick and accurate diagnosis is important so you can begin treatment for ALL right away. Call 617-632-6028 to schedule an appointment.

Second Opinions

Get Started

Consultations and Second Opinions

Because adult acute lymphoblastic leukemia is relatively uncommon, we believe there is great value in adults with suspected or diagnosed ALL consulting with our team of experienced clinicians. We routinely evaluate specimens sent to us from outside centers.

Reasons to consider a consultation or second opinion include:

  • If you have received a diagnosis elsewhere and want to be treated at Dana-Farber Brigham Cancer Center. We offer next-day appointments to ensure there is no delay in starting treatment should you wish to be treated at our specialty center.
  • To confirm your diagnosis.
  • To learn if you are eligible for a clinical trial.
  • To determine the optimal therapy and timing of treatment.
  • To determine if you should consider allogeneic stem cell transplant.
  • To learn more about your cancer from specialists who are world leaders in this disease, and who have treated hundreds of other patients like you.

Scheduling Your Appointment

To schedule your second opinion appointment:

Call 617-632-6028 or 617-632-5138

Request an Appointment Online

Can't travel to Boston in person? Take advantage of our Online Second Opinion service.

For Referring Physicians

Because you, the referring physician, are an integral part of your patient's care team, we are committed to collaborating with you to provide the best care for your patient.