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What Is Philadelphia Chromosome Positive ALL?

February 20, 2017
3 min read
What is Ph+ALL?

Dr. Gordon Cohen is a St. Baldrick’s Fellow at the John Hopkins Children’s Center. He’s testing new drugs for patients with Ph+ALL who relapse or fail to respond to treatment. He explains Ph+ALL symptoms, treatment options, and how your support is moving clinical trials forward to help kids with this disease.

What is Ph+ ALL?

Philadelphia Chromosome-positive acute lymphoblastic leukemia (Ph+ ALL) is a rare subtype of acute lymphoblastic leukemia (ALL), the most common childhood cancer. Ph+ ALL develops when white blood cells called lymphocytes undergo a specific genetic mutation: the fusion of the BCR and ABL genes. This mutation creates the Philadelphia Chromosome, which drives the growth of cancerous white blood cells.

Although Ph+ ALL is uncommon in children, it appears more frequently in adults with ALL and is a significant cause of chronic myelogenous leukemia (CML), a more common adult leukemia.

Signs and Symptoms of Ph+ ALL

Ph+ ALL shares its symptoms with standard ALL, including:

  • Enlarged liver or spleen
  • Swollen lymph nodes
  • Pale skin
  • Fever
  • Easy bruising or bleeding
  • Weight loss
  • Bone pain
  • Abnormal blood cell counts

These symptoms often mimic other illnesses, like viral infections such as mononucleosis, making specialized tests essential for a correct diagnosis.

How is Ph+ ALL Diagnosed?

Doctors usually identify Ph+ ALL after confirming an ALL diagnosis. Advanced genetic testing pinpoints mutations, like the Philadelphia Chromosome, in cancer cells. These tests help tailor treatment by revealing how genetic abnormalities affect the cancer’s response to therapies.

In most cases, patients learn they have the Ph+ ALL subtype about one to two weeks after their initial diagnosis, once genetic testing provides detailed results.

Ph+ ALL Treatment Options

In the past, standard chemotherapy alone led to poor survival rates for pediatric Ph+ ALL—just 30%. Recent advancements have dramatically improved outcomes.

Targeted therapies, particularly tyrosine kinase inhibitors (TKIs), have transformed treatment. Imatinib (Gleevec), the most prominent TKI, is now paired with chemotherapy, doubling survival rates to around 70%.

Ongoing clinical trials continue to refine treatment strategies, including new protocols that combine imatinib with chemotherapy for even better outcomes.

The Role of Research in Ph+ ALL Treatment

Despite progress, survival rates for Ph+ ALL still lag behind the 85%+ rates seen in most pediatric ALL cases. Researchers are focusing on two main goals:

  1. Developing new drugs that more effectively target the Philadelphia Chromosome.
  2. Creating alternative treatments for the 30% of patients who don’t respond to imatinib or experience a relapse.

Our research aims to uncover why some pediatric Ph+ ALL patients don’t respond to current therapies and explore new drug combinations to improve cure rates.

As research advances, we remain optimistic about achieving better outcomes for all children with Ph+ ALL.

Has your child been touched by childhood cancer or do you know a child that has been diagnosed? St. Baldrick’s Honored Kids, who have been affected by cancer, inspire fundraising participants to be part of the Foundation’s mission — to fund lifesaving research.
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Learn about one of our recent Research Outcomes:
CAR T-Cell Therapy and St. Baldrick’s: Pioneering Progress in Childhood Cancer