Internship Report

The Impact of CEBPA gene Mutation on Cell Morphology and Immunophenotyping in 48 Years Old Acute Myeloid Leukemia Patient

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Acute myeloid leukemia (AML) is a type of blood cancer that develops due to DNA mutations in the stem
cells. AML survival rates show only 30.5% which significantly contributes to the number of cancer-related
mortality. One of the altered genes that are frequently identified in AML patients is CEBPA. The CEBPA
gene encodes the C/EBPɑ-p42 and C/EBPɑ-p30 that consist of C-terminal and N-terminal domains. This
gene is substantially expressed during myeloid differentiation, binds to the promoters of multiple genes
relevant to myeloid development, and regulates gene expression at various stages of myeloid maturity.
Two-site mutation of this gene has been commonly applied for the prognosis of AML. However, the
significance of one-site mutation in the development of AML has not been well established. Concerning
to this issue, the current study aimed to observe the clinical features of 48-years old AML patients with
C-terminal CEBPA mutations through Next-generation sequencing, immunophenotyping, and Wright’s
staining. A 48-year-old AML patient's CEBPA gene mutation resulted in a change in C.690G>T, which
denotes benign mutations. However, this study demonstrated that this mutation had a relationship with
the clinical significance of immunophenotyping and cell morphology in the patient as evidenced by the
higher expression of CD19
+
. Thus, further studies to understand the impacts of CEBPA gene alteration on
the development of AML are still needed

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Availability

Detail Information

Series Title

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Call Number

BM 22-015

Publisher

i3L, Jakarta : i3L, Jakarta., 2022

Collation

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Language

English

ISBN/ISSN

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Classification

NONE

Content Type

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Media Type

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Carrier Type

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Edition

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Subject(s)

Acute Myeloid Leukemia
CEBPA
NGS
Cell Morphology
Immunophenotyping

Specific Detail Info

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Statement of Responsibility

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