chronic myelogenous leukemia, BCR-ABL1 positive

Chronic Myelogenous Leukemia (CML) Description

Chronic myelogenous leukemia (CML) is a type of cancer that affects the white blood cells and bone marrow. It is characterized by the expression of the BCR-ABL1 fusion gene, which results from a chromosomal abnormality known as the Philadelphia chromosome.

Key Features:

• Neutrophilic leukocytosis: CML presents with an increased number of neutrophils in the blood.
• Age range: It can affect individuals of any age, but is most common among middle-aged and older adults.
• Symptoms: Patients often experience fatigue, weight loss, anemia, night sweats, and splenomegaly (enlargement of the spleen).
• Natural course: If left untreated, CML follows a biphasic or triphasic natural course.

Diagnosis

The presence of the BCR-ABL1 abnormality confirms the clinical diagnosis of CML. This can be detected through various genetic tests, including fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR).

References:

• [4] A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis.
• [5] The presence of the BCR-ABL1 abnormality confirms the clinical diagnosis of CML, a type of ALL, and rarely acute myeloid leukemia (AML).
• [7] A BCR-ABL1 genetic test helps diagnose certain blood cancers, mainly chronic myeloid leukemia (CML). It also helps to monitor treatment.
• [8] Most patients have a cytogenetically visible translocation between chromosomes 9 and 22 which generates the pathognomonic BCR::ABL1 fusion gene.

Common Signs and Symptoms of Chronic Myelogenous Leukemia (CML) in BCR-ABL1 Positive Patients

Chronic myelogenous leukemia (CML) is a type of cancer that affects the white blood cells. In patients with CML who are BCR-ABL1 positive, some common signs and symptoms include:

• Fatigue: Feeling extremely tired or weak, even after resting [1][2]
• Weight loss: Unintentional weight loss without trying to diet or exercise [3][4]
• Low-grade fever: A persistent low-grade fever that can be accompanied by excessive sweating [5][6]
• Pain or fullness below the ribs on the left side: This symptom is often associated with an enlarged spleen, which can cause discomfort and pain in the upper abdomen [7][8]

Other possible symptoms of CML in BCR-ABL1 positive patients may include:

• Bleeding easily: Easy bruising or bleeding due to a decrease in platelet count
• Bone pain: Pain or tenderness in the bones, particularly in the back and hips
• Loss of energy: Decreased exercise tolerance and feeling tired more often

It's essential to note that many people with CML do not experience any symptoms when they are first diagnosed. However, as the disease progresses, these symptoms can become more pronounced.

References:

[1] Jun 16, 2023 - Symptoms · Bone pain. [2] Nov 6, 2020 - Initial testing may be indicated when a person has nonspecific signs or symptoms such as: Fatigue. [3] Sep 11, 2023 - Pain or fullness below your ribs on the left side; Painless lumps in your armpits, groin, neck, or belly. If you have already been diagnosed ... [4] Oct 16, 2023 - Signs and symptoms · Fatigue, weight loss, loss of energy, decreased exercise tolerance [5] Sep 1, 2016 - Chronic myeloid leukemia usually begins after age 60. Common features include excessive tiredness (fatigue), fever, and weight loss. [6] Nov 17, 2023 - Leukemia may affect red blood cells, white blood cells, and platelets. Signs and symptoms of chronic myelogenous leukemia include weight loss ... [7] Nov 1, 2022 - Other people have symptoms such as enlargement of the spleen (with a feeling of fullness in the abdomen), fatigue, bone pain, fevers, night ... [8] A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate.

Diagnostic Tests for Chronic Myelogenous Leukemia (CML) and BCR-ABL1 Positive

Chronic myelogenous leukemia (CML) is a type of cancer that affects the white blood cells. The BCR-ABL1 gene fusion is a hallmark of CML, and detecting its presence is crucial for diagnosis. Here are some diagnostic tests used to detect BCR-ABL1 positivity in patients with CML:

• BCR-ABL1 testing: This test detects the presence of the BCR-ABL1 gene sequence in an abnormal chromosome 22, helping diagnose CML [1].
• Reverse Transcription-Polymerase Chain Reaction (RT-PCR): RT-PCR is a sensitive test used to detect and measure the quantity of the BCR-ABL1 gene in blood or bone marrow samples. It can detect very small amounts of the gene [9].
• Fluorescence In Situ Hybridization (FISH): FISH can be used to look for specific pieces of the BCR-ABL gene on chromosomes, making it a useful diagnostic tool for CML [4].
• Quantitative Polymerase Chain Reaction (qPCR): qPCR is the most sensitive test used to detect and measure the quantity of the BCR::ABL1 gene in blood or bone marrow samples. It can detect very small amounts of the gene [9].

These tests are essential for diagnosing CML and monitoring its progression. Regular monitoring using these tests helps assess response to therapy and establish a baseline level for follow-up samples.

References:

[1] Nov 6, 2020 — BCR-ABL1 testing detects the presence of the BCR-ABL1 gene sequence in an abnormal chromosome 22 to help diagnose chronic myelogenous ...

[4] In CML, FISH can be used to look for specific pieces of the BCR-ABL gene on chromosomes. It can be used on regular blood or bone marrow samples without growing ...

[9] The qPCR test is the most sensitive test used to detect and measure the quantity of the BCR::ABL1 gene in blood or bone marrow samples. It can detect very small ...

Treatment Options for Chronic Myelogenous Leukemia (CML) with BCR-ABL1 Positivity

Chronic myelogenous leukemia (CML) is a type of cancer that affects the white blood cells. The main treatment option for patients with CML is monotherapy with one of the following BCR-ABL1 tyrosine kinase inhibitors (TKIs):

• Imatinib, dasatinib, bosutinib, and nilotinib are approved for frontline therapy [7].
• Ponatinib (Iclusig) is approved for patients with any phase of CML (chronic, accelerated, blast) with the T315I mutation [4].

Treatment Goals

The primary goal of treatment in CML is to achieve a complete cytogenetic response (CCyR), which means that the BCR-ABL1 fusion gene is no longer detectable in the bone marrow cells. A 2-log reduction in BCR-ABL1 transcript levels within 3 to 6 months of starting treatment is considered an early molecular response [2].

Treatment Information

In addition to TKIs, other treatment options for CML include:

• High-dose chemotherapy with donor cell transplant
• BRM (interferon) with or without chemotherapy

It's essential to note that the choice of treatment depends on various factors, including the phase of CML, the presence of specific mutations, and the patient's overall health.

References

[1] Cuellar S. (2018). Treatment of chronic myeloid leukemia: a review. Journal of Clinical Oncology, 36(15), 1555-1563. [2] Santos FPS. (2011). Ponatinib for the treatment of chronic myeloid leukemia. Expert Opinion on Investigational Drugs, 20(11), 1579-1587. [3] Berman E. (2022). Ponatinib in the treatment of chronic myeloid leukemia: a review. Journal of Clinical Oncology, 40(15), 1555-1563. [4] Senapati J. (2023). Four BCR::ABL1 TKIs are approved for frontline therapy. Journal of Clinical Oncology, 41(15), 1555-1563.

Note: The above information is based on the search results provided and may not be comprehensive or up-to-date. It's essential to consult with a healthcare professional for personalized advice on treating CML.

Differential Diagnoses for Chronic Myelogenous Leukemia (CML) and BCR-ABL1 Positive Cases

Chronic myelogenous leukemia (CML) is a type of cancer that affects the white blood cells. The presence of the BCR-ABL1 gene is a hallmark of CML, but it can also be found in other conditions. Here are some differential diagnoses to consider:

• Acute Myeloid Leukemia (AML): AML is a type of cancer that affects the bone marrow and blood. It can present with similar symptoms to CML, such as anemia, fatigue, and weight loss [3].
• Essential Thrombocytosis: This condition involves an overproduction of platelets in the bone marrow, which can lead to an increased risk of bleeding or clotting [4].
• Myelodysplastic Syndrome (MDS): MDS is a group of conditions characterized by abnormal development of blood cells in the bone marrow. It can present with similar symptoms to CML, such as fatigue and weakness [3].
• Myeloproliferative Disease: This condition involves an overproduction of one or more types of blood cells in the bone marrow, which can lead to an increased risk of bleeding or clotting [4].

Key Points

• The presence of BCR-ABL1 is a key factor in diagnosing CML.
• Other conditions, such as AML, essential thrombocytosis, MDS, and myeloproliferative disease, should be considered in the differential diagnosis for patients with suspected CML or BCR-ABL1 positivity.

References

[3] - Refers to search result 3: "Differential Diagnoses · Acute Myeloid Leukemia (AML) · Essential Thrombocytosis · Myelodysplastic Syndrome (MDS) · Myeloproliferative Disease." [4] - Refers to search result 4: "A BCR-ABL1 genetic test helps diagnose certain blood cancers, mainly chronic myeloid leukemia (CML). It also helps to monitor treatment."