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What is Philadelphia Syndrome?

  • A genetic abnormality that occurs in chromosome 22 and generally causes a specific type of leukemia, called Chronic Myeloid Leukemia (CML).
  • The chromosome is unusually short and defective because of a process called reciprocal translation which is the rearrangement of parts between nonhomologous chromosomes. This causes two genes to fuse together.
  • In Philadelphia Syndrome, a fusion gene is created between the ABL 1 gene on chromosome 9 and the BCR gene on chromosome 22.
  • The result is a gene called BCR-ABL 1 which codes for a tyrosine kinase signaling protein to be always on causing the cell to divide uncontrollably, causing cancer.
  • The Philadelphia (Ph) chromosome has also been linked to Acute Lymphoblasitc Leukemia (ALL) and can occasionally cause Acute Myelogenous Leukemia as well.

Life Expectancy

Prevalence

  • Before the diescovery of tyrosine kinase inhibitors, the average prognosis for CML patients had been about 3–5 years from time of diagnosis
  • Now, with the help of TKI's, survival rates have improved dramatically. A 2006 followup of 553 patients using imatinib (Gleevec) found an overall survival rate of 89% after five years

"Chronic Myelogenous Leukemia." How the Philadelphia Chromosome Forms. N.p., n.d. Web. 18 Mar. 2016.

http://emedicine.medscape.com/article/199425-overview

  • The Philadelphia Chromosome was the first consistent chromosome abnormality found in any kind of malignancy.
  • The American Cancer Society estimates that about 5,980- 6,000 new cases of CML are diagnosed. There are also cases of AML and ALL related to the Philadelphia Chromosome as well.
  • It is more prevalent in women than in men.
  • It is more prevalent in Caucasians than African Americans.
  • There is adult CML and childhood CML, however the average patient is ~65 years old and it is fairly rare in children.

Organizations/Support

There are several organizations that offer information and support for newly diagnosed patients.

  • The National CML Society: http://www.nationalcmlsociety.org/,
  • CML Support: http://www.cmlsupport.org.uk/
  • CML Advocates Network: http://www.cmladvocates.net/cml-groups-list

There is also an International Chronic Myeloid Leukemia Foundation that helps raise money for research and offers support to patients.

  • https://www.cml-foundation.org/

"World CML Day." CML Advocates Network. CML Advocates Network, 22 Oct. 2015. Web. 18 Mar. 2016.

Symptoms

Limitations

Unfortunately, like most cancers,many people don't develop symptoms until later stages. However, when CML, ALL, and AML symptoms do occur, they can include:

  • bleeding easily and frequently
  • feeling rundown/tired
  • weight loss
  • pale skin
  • night sweats
  • bruising
  • fatigue
  • anemia
  • fever
  • frequent infections
  • bone pain

  • Because it's cancer, it causes a lot of limitations on the body and some of the symptoms and side effects of CML can also be incredibly life altering.
  • People with the Phladelphia chromosome are fighting a battle against cancer, the leading cause of death in the world.

Diagnostics

Genetic Disease: Philadelphia Syndrome

"About Philadelphia Chromosome‐positive CML." About Philadelphia Chromosome: positive CML. Oncology VU, n.d. Web. 19 Mar. 2016.

  • In order to diagnose a Philadelphia chromosome related illness, several tests have to be done. Generally a blood test and

a bone marrow test are taken and a hematopathologist confirms the diagnoses if the Philadelphia (Ph) chromosome is present and there are cells with the BCR-ABL oncogene.

  • Cytogenetic analysis, Fluorescence in situ hybridization (FISH), and Polymerase chain reaction (PCR) testing are also used for diagnosis and during treatment
  • There are three stages of Chronic Myeloid Leukemia:
  • Chronic phase
  • Accelerated phase
  • Blast crisis phase
  • Each phase describes CML's progression, determined by the number of blast cells (white cells that don't fully form,blocking production of functioning blood cells) in the blood and bone marrow.

"Clinical Pathophysiology of the Blood System." Clinical Pathophysiology of the Blood System. N.p., n.d. Web. 19 Mar. 2016.

By Ciara Blanchette and Matt Mitchell

"Chronic Myelogenous Leukemia Treatment." National Cancer Institute. NCI, n.d. Web. 19 Mar. 2016.

"About Lymphoma." Bone Marrow Tests. N.p., n.d. Web. 19 Mar. 2016.

Treatments

  • The only treatment that completely cures a patient of CML is a bone marrow transplant or an allogeneic stem cell transplant.
  • There are four major forms of treatment that are known to improve the severity of the disease/make it manageable for the patient:

1) Treatment with tyrosine kinase inhibitors/chemotherapy (drugs that specifically target BCR-ABL, the activated tyrosine kinase fusion protein caused by the Philadelphia chromosome translocation)

  • The most common is called Gleevac

2) Myelosuppressive or leukopheresis therapy (to counteract leukocytosis)

3) Splenectomy (may help improve blood counts and relieve pressure and discomfort from an enlarged spleen)

4) Interferon alfa-2b treatment

Evolution

Because Philadelphia Syndrome is a genetic disorder,the only options for eradication would be genetic reprogramming or "selective breeding." Both of these options calls into question the ethics of disease treatment. However, if we could single out the genes on the translocating chromosomes, we could prevent the development of CML, ALL, and AML in patients with this mutated chromosome.

"Chronic Myeloid Leukemia: A Patient's Journey." YouTube. YouTube, 3 Sept. 2010. Web. 19 Mar. 2016.

Bibliography

  • "Philadelphia Chromosome (Ph)." MedicineNet. N.p., n.d. Web. 18 Mar. 2016.
  • "Chronic Myelogenous Leukemia." How the Philadelphia Chromosome Forms. N.p., n.d. Web. 18 Mar. 2016.
  • "Chronic Myeloid Leukemia." Chronic Myeloid Leukemia. N.p., n.d. Web. 18 Mar. 2016.
  • "Chronic Myloid Leukemia." Leukemia and Lymphoma Society. Leukemia and Lymphoma Society, n.d. Web. 18 Mar. 2016.
  • "Chronic Myeloid Leukemia: A Patient's Journey." YouTube. YouTube, 3 Sept. 2010. Web. 19 Mar. 2016.
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