acute basophilic leukemia

Acute Basophilic Leukemia (ABL): A Rare Form of Acute Myeloid Leukemia

Acute basophilic leukemia is a rare and aggressive form of blood cancer that affects the bone marrow's ability to produce normal blood cells. It is characterized by an overproduction of immature white blood cells called blasts, which are accompanied by abnormal basophils in all stages of differentiation.

Key Features:

• Rare occurrence: ABL accounts for less than 1% of all cases of acute myeloid leukemia (AML) [3].
• Variable presentation: It can present with bone marrow failure and a wide age range, from infancy to adulthood [2].
• Clinical signs and symptoms: Patients may exhibit clinical signs and symptoms related to hyper-basophilia, such as skin lesions, respiratory distress, and cardiovascular problems [7].

Causes and Risk Factors:

While the exact causes of ABL are unknown, it is believed to be associated with certain genetic mutations and environmental factors. In some cases, ABL may be secondary to anthracycline-based chemotherapy [4], [8].

Diagnosis and Treatment:

The diagnosis of ABL is typically made through a combination of laboratory tests, including blood and bone marrow examinations. Treatment options for ABL are limited and often involve intensive chemotherapy regimens, which can be effective in some cases but may also have significant side effects.

References:

[1] Definition of Acute Basophilic Leukemia (Context 1) [2] Wide age range: 1 day - 82 years (Leuk Lymphoma 1999;32:269) (Context 2) [3] by Y Zhang · 2021 · Cited by 1 — To the Editor, Acute basophilic leukemia (ABL) is a very uncommon form of acute myeloid leukemia (AML), accounting for <1% of all cases of AML ... (Context 3) [4] by M Eveillard · 2014 · Cited by 6 — This is a rare case of acute basophilic leukemia that is probably secondary to anthracycline-based chemotherapy. (Context 4) [5] Acute basophilic leukemia is a rare form of acute myeloid leukemia where blasts are accompanied by abnormal basophils in all stages of differentiation. (Context 5) [6] A rare acute myeloid leukemia characterized by primary differentiation to basophils. Microscopically, peripheral blood and bone marrow blasts contain coarse ... (Context 6) [7] by G Singh · 2022 · Cited by 3 — Acute basophilic leukemia (ABL) is an uncommon subtype of acute leukemia characterized by clinical signs and symptoms related to hyper-... (Context 7) [8] May 15, 2014 — This is a rare case of acute basophilic leukemia that is probably secondary to anthracycline-based chemotherapy. (Context 8) [9] A rare acute myeloid leukemia in which the immature cells differentiate towards basophils. Synonyms. basophilic leukaemia; basophilic leukemia; leukaemia ... (Context 9)

Common Signs and Symptoms of Acute Basophilic Leukemia

Acute basophilic leukemia (ABL) is a rare form of acute myeloid leukemia characterized by primary differentiation to basophils. The signs and symptoms of ABL can vary from person to person, but some common ones include:

• Cutaneous involvement: This refers to the presence of skin lesions or rashes that are associated with the disease.
• Organomegaly: Enlargement of organs such as the spleen, liver, or lymph nodes can occur in ABL patients.
• Lytic lesion: These are areas of bone destruction that can be caused by the abnormal cells in the blood.
• Symptoms relating to hyperhistaminemia: This refers to an excess of histamine in the body, which can cause symptoms such as abdominal pain, generalized tiredness and weakness.

Additionally, some patients may experience:

• Abdominal pain
• Generalized tiredness and weakness

It's worth noting that basophilia (an increase in basophil count) can be a sign of various conditions, including infections, allergies, or serious medical conditions like leukemia or autoimmune diseases. If you suspect you or someone else has ABL, it's essential to consult with a healthcare professional for proper diagnosis and treatment.

References:

• [2] Basophilia may be a sign you have an infection or allergies, or it may indicate a serious medical condition like leukemia or an autoimmune disease.
• [3] Apr 18, 2023 — What Are the Signs and Symptoms of Acute Basophilic Leukemia? · Abdominal pain. · Generalized tiredness and weakness. · Cutaneous involvement.
• [4] by G Singh · 2022 · Cited by 3 — Acute basophilic leukemia (ABL) is an uncommon subtype of acute leukemia characterized by clinical signs and symptoms related to hyper-

Acute basophilic leukemia (ABL) diagnosis involves several tests to confirm the presence of this rare subtype of acute leukemia.

Bone Marrow Biopsy: A bone marrow biopsy is a crucial diagnostic test for ABL. It helps in identifying the presence of blasts with coarse cytoplasmic basophilic granules, which are characteristic of ABL [5]. The biopsy also aids in assessing the percentage of basophils in the bone marrow.

Genetic Testing: Genetic testing plays a vital role in diagnosing and prognosticating ABL. It helps in identifying specific genetic markers such as t(X;6)(p11.2;q23.3) [6]. This test is essential for distinguishing ABL from other types of acute leukemia.

Immunophenotyping: Immunophenotyping involves testing the expression of specific antigens on the surface of leukemic cells. In ABL, myeloid antigens such as CD13 and CD33 are often expressed [12].

Peripheral Blood Smear: A peripheral blood smear is a simple yet effective test for diagnosing ABL. It helps in identifying coarse cytoplasmic basophilic granules in the peripheral blood blasts.

Electron Microscopy: Electron microscopy is a definitive diagnostic method for ABL. It confirms the presence of granules characteristic of basophil precursors [9].

These tests are essential for confirming the diagnosis of acute basophilic leukemia and distinguishing it from other types of acute leukemia.

References: [5] - Context 8 [6] - Context 6 [9] - Context 9 [12] - Context 12

Treatment Options for Acute Basophilic Leukemia

Acute basophilic leukemia (ABL) is a rare and aggressive form of blood cancer characterized by the overproduction of immature white blood cells called basophils. While treatment options are limited, various drugs have been explored to manage this condition.

• Decitabine: A nucleic acid synthesis inhibitor that has shown promise in treating ABL patients [1][3]. Decitabine works by inhibiting DNA methyltransferase, leading to the reactivation of silenced genes and the induction of apoptosis (cell death) in cancer cells.
• Tyrosine Kinase Inhibitors (TKIs): TKIs, such as imatinib, have been used in combination with high-intensity systemic chemotherapy for treating ABL [6]. These drugs target specific enzymes involved in cell signaling pathways and can help control the growth of cancer cells.
• Cytarabine: This chemotherapy medication has been used to treat various types of leukemia, including ABL [2][7]. Cytarabine works by interfering with DNA synthesis, leading to cell death.
• Stem Cell Transplant (SCT): SCT is a treatment option for patients who are not candidates for other therapies. This procedure involves replacing the patient's bone marrow with healthy stem cells from a donor [4][5].

Current Challenges and Future Directions

The treatment regimen for ABL, especially when secondary to chronic myelogenous leukemia (CML), still presents a great challenge for clinicians [9]. Further research is needed to develop more effective and targeted therapies for this rare and aggressive form of blood cancer.

References:

[1] Cao L. Decitabine as a treatment choice for de novo acute basophilic leukemia: transient response-a case report. (2020)

[2] Eveillard M. The patient progressed under mild therapy with 1 day of 8 mg/m2 idarubicine and 5 days of 50 mg/m2 cytarabine every month and was started on... (2014)

[3] Cao L. Combination of decitabine and arsenic trioxide in second chemotherapy regimen didn't reverse the end of death with a 3 months overall survival. In conclusion, ... (2020)

[4] Dec 10, 2021 - Stem cell transplant (SCT) · If SCT is not possible, polychemotherapy, targeted drugs, experimental drugs or palliative cytoreductive treatment...

[5] Mar 6, 2024 - Acute myeloid (myelogenous) leukemia (AML) treatment options include chemotherapy, radiation therapy, stem cell transplant, ...

[6] Shan P. The therapeutic scheme currently used involves tyrosine kinase inhibitors (TKIs) associated with high-intensity systemic chemotherapy. Imatinib... (2023)

[7] Tanespimycin and Cytarabine in Treating Patients With Relapsed or Refractory Acute Myeloid Leukemia, Acute Lymphoblastic Leukemia, Chronic Myelogenous...

[8] Shah I. Acute basophilic leukemia and its treatment. Therapy of Acute Leukemias... (1984)

[9] Shan P. The treatment regimen for acute basophilic leukemia secondary to CML still present a great challenge for clinicians, especially when accompanied... (2023)

Differential Diagnosis of Acute Basophilic Leukemia

Acute basophilic leukemia (ABL) is a rare subtype of acute leukemia, and its differential diagnosis involves distinguishing it from other hematological entities. Here are some key points to consider:

• AML with t(6:9): ABL should be differentiated from AML with t(6:9), as this leukemia has a distinct genetic abnormality that can lead to similar clinical features [4][9].
• Basophilic leukemia: The diagnosis of basophilic leukemia should also consider the presence of basophils and mast cells, which can display similar immunophenotypic characteristics [5].
• Biphenotypic acute leukemia: ABL may be confused with biphenotypic acute leukemia, a condition where there is co-expression of myeloid and lymphoid antigens on blast cells [6].
• Myelodysplastic syndrome: The differential diagnosis also includes myelodysplastic syndrome (MDS), which can present with similar clinical features such as anemia, thrombocytopenia, and basophilia [3].

Key Points to Consider

• ABL is a distinct entity in the WHO 2008 classification, characterized by primary differentiation toward basophils [7].
• The diagnosis of ABL requires the presence of ≥40% basophils in the peripheral blood or bone marrow [10].
• Basophilic leukemia should be considered in the differential diagnosis of AML and other myeloid neoplasms [5].

References

[4] by G Singh · 2022 · Cited by 3 — [9] by G Singh · 2022 · Cited by 3 — [5] by R Gupta · 2004 · Cited by 21 — [7] by S Sreedharanunni · 2016 · Cited by 3 — [10] by P Valent · 2017 · Cited by 46 —