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atypical chronic myeloid leukemia, BCR-ABL1 negative
ICD-10 Codes
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Description
Atypical Chronic Myeloid Leukemia (aCML), BCR-ABL1 Negative: A Rare Hematological Malignancy
Atypical chronic myeloid leukemia (aCML), BCR-ABL1 negative is a rare and distinct type of blood cancer that falls under the category of myelodysplastic/myeloproliferative neoplasms. This condition is characterized by:
- Principal involvement of the neutrophil series: The disease primarily affects the neutrophils, which are a type of white blood cell responsible for fighting infections.
- Leukocytosis and multilineage dysplasia: There is an abnormal increase in the number of white blood cells (leukocytosis) with multiple lines of dysplastic cells, indicating a problem in the production of these cells.
- BCR-ABL1 negativity: Unlike other forms of chronic myeloid leukemia, aCML is BCR-ABL1 negative, meaning that it does not have the characteristic genetic mutation associated with this type of cancer.
Key Features and Symptoms
The key features and symptoms of aCML include:
- Increasing leukemic cell burden
- Organomegaly (enlargement of organs such as the spleen)
- Anemia
- Bone marrow failure
References:
- [1] PT Diamantopoulos · 2021 · Cited by 2 — Atypical chronic myelogenous leukemia (aCML), BCR/ABL1 negative is a rare myelodysplastic/myeloproliferative neoplasm, usually manifested with ...
- [3] It is characterized by principal involvement of the neutrophil series with leukocytosis comprised of immature and mature neutrophils that are dysplastic.
- [8] aCML is a rare BCR–ABL1 negative myelodysplastic/myeloproliferative neoplasm characterized by increasing leukemic cell burden, organomegaly, anemia, and bone ...
- [5] Atypical chronic myeloid leukemia, BCR-ABL1 negative (aCML) is a rare myelodysplastic syndrome (MDS)/myeloproliferative neoplasm (MPN) for which no current ...
Additional Characteristics
- Anemia
- Bone marrow failure
- Atypical chronic myeloid leukemia (aCML), BCR-ABL1 negative
- Principal involvement of the neutrophil series
- Leukocytosis and multilineage dysplasia
- BCR-ABL1 negativity
- Increasing leukemic cell burden
- Organomegaly (enlargement of organs such as the spleen)
Signs and Symptoms
Common Signs and Symptoms
Atypical chronic myeloid leukemia (aCML), BCR-ABL1 negative is a rare condition that can exhibit various signs and symptoms. Some of the common ones include:
- Bruising and bleeding: Easy bruising or bleeding due to low platelet count or dysfunction [3][4]
- Fatigue: Feeling weak, tired, or lacking energy [2][4]
- Weakness: Generalized weakness or feeling unwell [2][4]
- Pain below the ribs: Pain or discomfort in the abdominal area [3]
- Anemia: Low red blood cell count leading to pale skin, gums, and other tissues [3][6]
Other Possible Symptoms
In addition to these common signs and symptoms, some patients may also experience:
- Difficulty breathing: Shortness of breath or feeling winded even when sitting still [2]
- Pale appearance: Pale skin, gums, or other tissues due to anemia [3][4]
- Lightheadedness: Feeling dizzy or lightheaded upon standing up [4]
- Infections: Increased susceptibility to infections due to a weakened immune system [6]
Important Notes
It's essential to note that these symptoms can be similar to those of other conditions, and only a proper medical diagnosis by a qualified healthcare professional can confirm the presence of aCML. If you or someone you know is experiencing any of these symptoms, it's crucial to seek immediate medical attention.
References:
[1] PT Diamantopoulos (2021) - Organomegaly and hyperleukocytosis in patients with aCML [2] Aug 12, 2021 - Symptoms of atypical CML [3] C92.2 Atypical chronic myeloid leukemia, BCR/ABL-negative (effective October 01, 2015) [4] Jun 25, 2024 - What are the symptoms of atypical CML? [5] by J Belkhair (2019) - Clinical features of aCML [6] by S Giri (2015) - Clinical features of BCR/ABL negative CML
Diagnostic Tests
Diagnosing Atypical Chronic Myeloid Leukemia (aCML), BCR-ABL1 Negative
Atypical chronic myeloid leukemia (aCML) is a rare and aggressive form of leukemia that does not express the BCR-ABL1 fusion gene, which is typically associated with classical CML. Di
Additional Diagnostic Tests
- Immunophenotyping
- Cytochemistry
- Molecular studies (e.g. RT-PCR)
Treatment
Treatment Options for Atypical Chronic Myeloid Leukemia (aCML) with BCR-ABL1 Negativity
Atypical chronic myeloid leukemia (aCML) is a rare and distinct form of CML that lacks the BCR-ABL1 fusion gene. The treatment options for aCML are limited, but various medications have been explored to manage this condition.
- Hydroxyurea: This medication has been reported to induce complete and partial hematologic remissions in some patients with Ph chromosome/BCR-ABL1-negative CML [10]. However, its effectiveness in aCML is not well established.
- Decitabine: A case report suggests that decitabine in combination with CAG chemotherapy may be an effective treatment for aCML [3][4].
- Busulfan and low-dose cytarabine: These medications have been used in the treatment of patients with aCM, although intensive chemotherapy is not a standard approach [5].
- Tipifarnib: This medication has shown promise in treating various myeloproliferative disorders, including CML and aCML. A clinical trial (NCT02210858) is investigating its efficacy in these conditions.
- Pegylated-IFNα-2b: A phase 2 study demonstrated improved tolerability of this medication over standard IFNα in BCR-ABL1–negative MPNs, which may be relevant to aCML [7].
Current Treatment Guidelines
Treatment for aCML typically involves medications to manage blood cell levels. If eligible, patients may also undergo a stem cell transplant [8]. However, the optimal treatment strategy for aCML remains unclear due to limited data and case reports.
References: [3] Cheng J (2020) - Decitabine in combination with CAG chemotherapy for atypical chronic myeloid leukemia. [4] Cheng J (2020) - Decitabine in combination with CAG chemotherapy for atypical chronic myeloid leukemia. [5] Diamantopoulos PT (2021) - Treatment of patients with aCM using busulfan and low-dose cytarabine. [7] Phase 2 study of pegylated-IFNα-2b in BCR-ABL1–negative MPNs. [8] Treatment for atypical chronic myeloid leukemia (aCML). [10] Gotlib J (2017) - Complete and partial hematologic remissions with hydroxyurea in Ph chromosome/BCR-ABL1-negative CML patients.
Recommended Medications
- Busulfan and low-dose cytarabine
- Tipifarnib
- Pegylated-IFNα-2b
- 5-aza-2'-deoxycytidine
- decitabine
- hydroxyurea
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
The differential diagnosis of atypical chronic myeloid leukemia (aCML), BCR-ABL1 negative includes several conditions that share similar clinical and laboratory features.
- BCR-ABL1-positive CML: This is a key condition to rule out, as it shares many similarities with aCML. The major criteria that distinguish aCML from BCR-ABL1-positive CML are the presence of dysgranulopoiesis in aCML, which is common but only occasionally seen in BCR-ABL1-positive CML [10].
- Chronic Myelomonocytic Leukemia (CMML): CMML can be distinguished from aCML by the presence of monocytosis (> 1.0 × 10^9/L) and the absence of significant dysgranulopoiesis in CMML [11].
- Chronic Neutrophilic Leukemia (CNL): CNL is characterized by an absolute neutrophil count > 25 × 10^9/L, which is not typically seen in aCML. Additionally, CNL often lacks the dysgranulopoiesis and myeloid precursor cells that are hallmarks of aCML [11].
- Prefibrotic Primary Myelofibrosis (pre-PMF): pre-PMF can be distinguished from aCML by the presence of fibrosis in the bone marrow, which is not typically seen in aCML. Additionally, pre-PMF often lacks the significant dysgranulopoiesis and myeloid precursor cells that are characteristic of aCML [10].
It's worth noting that the differential diagnosis of aCML can be challenging, and a thorough evaluation by an experienced hematopathologist is often necessary to accurately diagnose this condition.
References: [10] ... (from context) [11] ... (from context)
Additional Differential Diagnoses
- BCR-ABL1-positive CML
- Prefibrotic Primary Myelofibrosis (pre-PMF)
- chronic neutrophilic leukemia
- chronic myelomonocytic leukemia
Additional Information
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- A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene.
- oboInOwl#hasExactSynonym
- subacute myeloid leukemia
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