chronic myeloid leukemia (CML)

chronic myeloid leukemia (CML)
Name	Chronic myeloid leukemia
Specialty	Hematology, Oncology
Symptoms	Fatigue, Weight loss, Splenomegaly
Complications	Blast crisis, Myelofibrosis
Onset	Middle age
Duration	Chronic
Causes	Genetic mutation, Philadelphia chromosome
Risk factors	Radiation exposure, Genetic predisposition
Diagnosis	Blood test, Bone marrow biopsy
Treatment	Tyrosine kinase inhibitor, Allogeneic stem cell transplantation
Prognosis	Complete remission, Relapse

chronic myeloid leukemia (CML) is a type of Cancer that affects the Blood and Bone marrow, characterized by the uncontrolled growth of Myeloid cells, as seen in patients treated at Memorial Sloan Kettering Cancer Center and MD Anderson Cancer Center. It is often associated with the presence of the Philadelphia chromosome, a Genetic mutation that results from a Translocation between Chromosome 9 and Chromosome 22, as discovered by Peter Nowell and David Hungerford. CML is typically diagnosed in Middle age, with a higher incidence in Males than Females, and is often treated by Hematologists and Oncologists at institutions such as National Cancer Institute and American Cancer Society.

Introduction

CML is a type of Myeloproliferative neoplasm that is characterized by the overproduction of Granulocytes, as studied by Janet Rowley and Brian Druker. It is a Chronic disease that can progress to a more aggressive phase, known as Blast crisis, if left untreated, as seen in patients treated at University of Pennsylvania Health System and Dana-Farber Cancer Institute. CML is often diagnosed incidentally during routine Blood tests, and the diagnosis is typically confirmed by Bone marrow biopsy and Cytogenetic analysis at institutions such as Stanford Health Care and University of California, San Francisco. The treatment of CML has undergone significant advances in recent years, with the introduction of Tyrosine kinase inhibitors, such as Imatinib, which was developed by Novartis and approved by the US Food and Drug Administration.

Pathophysiology

The pathophysiology of CML is complex and involves multiple Genetic mutations, including the Philadelphia chromosome, which is a Translocation between Chromosome 9 and Chromosome 22, as described by Alfred Knudson and Bert Vogelstein. This translocation results in the creation of a Fusion gene called BCR-ABL, which is a Tyrosine kinase that is always Active and promotes the growth and survival of Myeloid cells, as studied by Charles Sawyers and Michael Deininger. The BCR-ABL protein is also involved in the regulation of Cell signaling pathways, including the PI3K/AKT pathway and the MAPK/ERK pathway, which are critical for cell growth and survival, as researched by Tony Hunter and Lewis Cantley. The Philadelphia chromosome is present in over 90% of CML patients, and its detection is a key diagnostic criterion, as used by American Society of Clinical Oncology and European Society for Medical Oncology.

Diagnosis

The diagnosis of CML is typically made by a combination of Clinical examination, Blood tests, and Bone marrow biopsy, as performed at Cleveland Clinic and Johns Hopkins Hospital. The Blood tests may show an elevated White blood cell count, Anemia, and Thrombocytosis, as seen in patients treated at Massachusetts General Hospital and University of Chicago Medical Center. The Bone marrow biopsy is used to confirm the diagnosis and to assess the extent of Bone marrow involvement, as studied by Hans-Wilhelm Müller-Wieland and Rüdiger Hehlmann. Cytogenetic analysis is also used to detect the presence of the Philadelphia chromosome, which is a key diagnostic criterion, as used by National Comprehensive Cancer Network and European LeukemiaNet.

Treatment

The treatment of CML has undergone significant advances in recent years, with the introduction of Tyrosine kinase inhibitors, such as Imatinib, Dasatinib, and Nilotinib, which were developed by Novartis and Bristol-Myers Squibb. These drugs are highly effective in controlling the disease and inducing Complete remission in many patients, as seen in clinical trials conducted by Eastern Cooperative Oncology Group and Southwest Oncology Group. Allogeneic stem cell transplantation is also used in some cases, particularly in patients who are resistant to Tyrosine kinase inhibitors or who have advanced disease, as performed at Fred Hutchinson Cancer Research Center and City of Hope National Medical Center. The treatment of CML is often managed by a team of Hematologists, Oncologists, and other healthcare professionals, as recommended by American Society of Hematology and European Hematology Association.

Prognosis

The prognosis of CML has improved significantly in recent years, with the introduction of Tyrosine kinase inhibitors, which have increased the Overall survival rate and reduced the risk of Blast crisis, as reported by National Cancer Institute and American Cancer Society. The prognosis is generally good for patients who respond well to treatment, with a high percentage of patients achieving Complete remission, as seen in patients treated at University of Texas MD Anderson Cancer Center and Duke University Health System. However, the disease can still progress to a more aggressive phase, known as Blast crisis, in some cases, which has a poor prognosis, as studied by Timothy Hughes and Jorge Cortes. The prognosis is also influenced by the presence of other Genetic mutations, such as ASXL1 mutation and DNMT3A mutation, which can affect the response to treatment, as researched by Ross Levine and Charles Mullighan.

Epidemiology

CML is a relatively rare disease, with an estimated incidence of 1-2 cases per 100,000 people per year, as reported by Surveillance, Epidemiology, and End Results (SEER) program and International Agency for Research on Cancer. The disease is more common in Males than Females, and the incidence increases with age, as seen in data from National Cancer Institute and Centers for Disease Control and Prevention. The disease is also more common in certain Geographic locations, such as United States and Europe, as reported by World Health Organization and European Cancer Observatory. The epidemiology of CML is influenced by a combination of Genetic and Environmental factors, including Radiation exposure and Genetic predisposition, as studied by National Institute of Environmental Health Sciences and European Environment Agency.

Category:Cancer