Journal of Leukemia
Open Access

Impact of Gene Mutation in the Occurrence of Mast Cell Leukemia

Sumit Agarwal^{* *}Correspondence: Sumit Agarwal, Department of Molecular Medicine and Surgery, University of Karolinska, Stockholm, Sweden, Email:

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Description

Mast cell leukaemia is an extremely uncommon, rapidly progressing condition in which the bone marrow and blood contain an abnormally high number of immature mast cells, a kind of white blood cell. Patients who have strong systemic mastocytosis, a disorder that causes an accumulation of mast cells, may experience it. Mast cell leukemia has a bad prognosis and is difficult to cure. In terms of clinicopathologic characteristics, it is more similar to systemic mastocytosis than acute myeloid leukemia and may manifest either de novo or as a result of prior mastocytosis. In MCL, the typical morphological characteristics of pathogenic mast cells that are present in the majority of cases of mastocytosis are unreliable.

Mast cell leukaemia subtypes

Depending on the indications and symptoms a person experiences, MCL is divided into various subtypes. Mast cells are typically present in both the blood and bone marrow of MCL patients. However, occasionally, people's blood levels of mast cells are low. Medics refer to this as aleukemic MCL. Additionally, MCL may be referred to as acute MCL if it results in organ damage (aMCL). Doctors may classify the illness as chronic MCL if there is no organ damage (cMCL). Sometimes different forms of leukaemia co-occur with mast cell leukaemia. The illness in question is known as MCL with an accompanying hematologic neoplasm (MCL-AHN). Chronic Myelomonocytic Leukaemia (CMML), Myelodysplastic Syndrome (MDS), Myelodysplastic Syndrome/Myeloproliferative Neoplasm Unclassifiable (MDS/MPNu), and chronic eosinophilic leukaemia are blood malignancies that may co-occur with MCL (CEL). Doctors refer to MCL as secondary MCL if it manifests in a patient who has already had another type of mastocytosis. De novo MCL refers to MCL that develops on its own.

Causes of mast cell leukaemia

The cells in bone marrow that create aberrant or immature blood cells are what give rise to leukaemia, a category of malignancies. Based on the kind of cells that are damaged, leukemias are categorised. The aberrant proliferation of cells from myeloid progenitor cells is the root cause of various different kinds of leukaemia, including MCL. Mast cells, platelets, red blood cells, and white blood cells can all develop from myeloid progenitor cells. Although the cause of MCL is not fully understood, multiple KIT gene mutations have been associated to the disease.

Gene mutation in mast cell leukemia

The most prevalent genetic aberration, the D816V c-KIT mutation, is essential to the pathophysiology and progression of the disease. This mutation confers a pattern of resistance to tyrosine kinase inhibitors like imatinib. With a median survival time of fewer than 6 months and few potent therapy options, the prognosis is bleak. Kit gene activating mutations have been linked to germ cell malignancies, systemic mastocytosis, and the malignant cell proliferation of Acute Myeloid Leukaemia (AML). When aspartic acid is replaced with valine (D816V), the receptor can be activated and signalled without the need for ligand. Stem Cell Factor (SCF), a tyrosine kinase receptor, is necessary for the activation of wild-type c-Kit.

Symptoms of mast cell leukemia

Mast cell activation syndrome symptom is frequently seen in people with MCL. When the mast cells release their internal compounds into the body at the incorrect time.

The signs appear in mast cell leukemia include:

• Fever

• Malaise

• Diarrhea

• Rapid heartbeat

• Significant weight loss

• Anorexia

• Extraordinary physical weakness or lack of energy

• An enlarged liver

• An enlarged spleen

Frequent urination and neuropsychiatric symptoms, such as delusions and hallucinations, are some of the less common symptoms.

Diagnosis and treatment of mast cell leukaemia

By counting the quantity of mast cells in the blood and bone marrow, doctors can identify MCL. To confirm an MCL diagnosis, doctors may perform a number of tests. These tests are tests of the blood and bone marrow, genetic tests, therapies for mast cell leukaemia, targeted therapy, chemotherapy, steroids, and stem cell transplant.