Philadelphia chromosome: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Philadelphia chromosome | |||
| image = [[File:Bcrablmet.jpg|250px]] | |||
| caption = Diagram showing the [[BCR-ABL]] fusion protein resulting from the Philadelphia chromosome | |||
| field = [[Hematology]] | |||
| symptoms = [[Fatigue (medical)|Fatigue]], [[weight loss]], [[night sweats]], [[splenomegaly]] | |||
| complications = [[Chronic myeloid leukemia]], [[acute lymphoblastic leukemia]], [[acute myeloid leukemia]] | |||
| onset = Typically in [[adulthood]] | |||
| duration = Long-term | |||
| causes = [[Genetic translocation]] between [[chromosome 9]] and [[chromosome 22]] | |||
| risks = [[Radiation exposure]], [[benzene]] exposure | |||
| diagnosis = [[Cytogenetic analysis]], [[fluorescence in situ hybridization]] (FISH), [[polymerase chain reaction]] (PCR) | |||
| differential = Other causes of [[leukemia]] | |||
| treatment = [[Tyrosine kinase inhibitors]], [[chemotherapy]], [[stem cell transplant]] | |||
| prognosis = Improved with treatment | |||
| frequency = Approximately 1-2 cases per 100,000 people per year | |||
}} | |||
[[File:Schematic_of_the_Philadelphia_Chromosome.svg|Schematic of the Philadelphia Chromosome|left|thumb]] | |||
[[File:3CS9_Abl1_Nilotinib.png|Abl1 bound to Nilotinib|left|thumb]] | |||
'''Philadelphia chromosome''' is a specific genetic abnormality in chromosome 22 of leukemia cancer cells. This abnormality was first discovered in the city of Philadelphia, Pennsylvania and is hence named after it. | '''Philadelphia chromosome''' is a specific genetic abnormality in chromosome 22 of leukemia cancer cells. This abnormality was first discovered in the city of Philadelphia, Pennsylvania and is hence named after it. | ||
== Discovery == | == Discovery == | ||
The Philadelphia chromosome was first discovered and described by [[David Hungerford]] from Fox Chase Cancer Center and [[Peter Nowell]] from the University of Pennsylvania School of Medicine in 1960. It was the first chromosomal abnormality to be associated with a specific disease, [[chronic myelogenous leukemia]] (CML). | The Philadelphia chromosome was first discovered and described by [[David Hungerford]] from Fox Chase Cancer Center and [[Peter Nowell]] from the University of Pennsylvania School of Medicine in 1960. It was the first chromosomal abnormality to be associated with a specific disease, [[chronic myelogenous leukemia]] (CML). | ||
== Formation == | == Formation == | ||
The Philadelphia chromosome is formed through a process called [[translocation]], where parts of two chromosomes (in this case, chromosome 9 and chromosome 22) swap places. This results in a longer chromosome 9 and a shorter chromosome 22, the latter being the Philadelphia chromosome. | The Philadelphia chromosome is formed through a process called [[translocation]], where parts of two chromosomes (in this case, chromosome 9 and chromosome 22) swap places. This results in a longer chromosome 9 and a shorter chromosome 22, the latter being the Philadelphia chromosome. | ||
== Associated Diseases == | == Associated Diseases == | ||
The Philadelphia chromosome is most commonly associated with chronic myelogenous leukemia. It is also sometimes found in patients with [[acute lymphoblastic leukemia]] (ALL) and occasionally in patients with [[acute myelogenous leukemia]] (AML). | The Philadelphia chromosome is most commonly associated with chronic myelogenous leukemia. It is also sometimes found in patients with [[acute lymphoblastic leukemia]] (ALL) and occasionally in patients with [[acute myelogenous leukemia]] (AML). | ||
== Treatment == | == Treatment == | ||
The discovery of the Philadelphia chromosome led to the development of the first targeted cancer therapy, [[Imatinib]] (Gleevec). This drug specifically inhibits the BCR-ABL1 fusion protein that is produced by the Philadelphia chromosome. | The discovery of the Philadelphia chromosome led to the development of the first targeted cancer therapy, [[Imatinib]] (Gleevec). This drug specifically inhibits the BCR-ABL1 fusion protein that is produced by the Philadelphia chromosome. | ||
== See Also == | == See Also == | ||
* [[Chronic myelogenous leukemia]] | * [[Chronic myelogenous leukemia]] | ||
| Line 18: | Line 33: | ||
* [[Acute myelogenous leukemia]] | * [[Acute myelogenous leukemia]] | ||
* [[Imatinib]] | * [[Imatinib]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Leukemia]] | [[Category:Leukemia]] | ||
[[Category:Chromosomal abnormalities]] | [[Category:Chromosomal abnormalities]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 22:15, 9 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
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| Philadelphia chromosome | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Fatigue, weight loss, night sweats, splenomegaly |
| Complications | Chronic myeloid leukemia, acute lymphoblastic leukemia, acute myeloid leukemia |
| Onset | Typically in adulthood |
| Duration | Long-term |
| Types | N/A |
| Causes | Genetic translocation between chromosome 9 and chromosome 22 |
| Risks | Radiation exposure, benzene exposure |
| Diagnosis | Cytogenetic analysis, fluorescence in situ hybridization (FISH), polymerase chain reaction (PCR) |
| Differential diagnosis | Other causes of leukemia |
| Prevention | N/A |
| Treatment | Tyrosine kinase inhibitors, chemotherapy, stem cell transplant |
| Medication | N/A |
| Prognosis | Improved with treatment |
| Frequency | Approximately 1-2 cases per 100,000 people per year |
| Deaths | N/A |
Philadelphia chromosome is a specific genetic abnormality in chromosome 22 of leukemia cancer cells. This abnormality was first discovered in the city of Philadelphia, Pennsylvania and is hence named after it.
Discovery[edit]
The Philadelphia chromosome was first discovered and described by David Hungerford from Fox Chase Cancer Center and Peter Nowell from the University of Pennsylvania School of Medicine in 1960. It was the first chromosomal abnormality to be associated with a specific disease, chronic myelogenous leukemia (CML).
Formation[edit]
The Philadelphia chromosome is formed through a process called translocation, where parts of two chromosomes (in this case, chromosome 9 and chromosome 22) swap places. This results in a longer chromosome 9 and a shorter chromosome 22, the latter being the Philadelphia chromosome.
Associated Diseases[edit]
The Philadelphia chromosome is most commonly associated with chronic myelogenous leukemia. It is also sometimes found in patients with acute lymphoblastic leukemia (ALL) and occasionally in patients with acute myelogenous leukemia (AML).
Treatment[edit]
The discovery of the Philadelphia chromosome led to the development of the first targeted cancer therapy, Imatinib (Gleevec). This drug specifically inhibits the BCR-ABL1 fusion protein that is produced by the Philadelphia chromosome.
