CEBPA polymorphisms and mutations in patients with acute myeloid leukemia, myelodysplastic syndrome, multiple myeloma and non-Hodgkin's lymphoma

Blood Cells, Molecules & Diseases
Ota FuchsKaterina Benesova

Abstract

The transcription factor CCAAT/enhancer binding protein (C/EBP)alpha is a myeloid-specific transcription factor which is required for normal myeloid differentiation. C/EBPalpha is encoded by an intronless gene that is 2783 bp long and maps to human chromosome 19q13.1. C/EBPalpha is a member of the basic region leucine zipper (bZIP) class of DNA-binding proteins. The loss of function of C/EBPalpha has leukemogenic potential. Four types of polymorphisms and 25 mutations (3 already known mutations and 22 novel mutations) were detected in CEBPA (gene for the transcription factor CCAAT/enhancer binding protein (C/EBP) alpha) in analysed samples from 390 patients with myelodysplastic syndrome (MDS) and hematologic malignancies. CEBPA mutations were found in 14/152 (9.2%) of acute myeloid leukemia (AML) patients' samples, 6/143 (4.2%) of MDS patients' samples, 2/56 (3.6%) of non-Hodgkin's lymphoma (NHL) patients' samples and 2/39 (5.1%) of multiple myeloma (MM) patients' samples. No C/EBPalpha mutations were detected in healthy donors (41 individuals). We discuss how these mutations can affect the cellular function of C/EBPalpha and block the myeloid differentiation.

References

Aug 25, 1995·Science·N D WangG J Darlington
Apr 15, 2003·The Hematology Journal : the Official Journal of the European Haematology Association·Sahar Barjesteh van Waalwijk van Doorn-KhosrovaniRuud Delwel
Jan 17, 2004·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Stefan FröhlingKonstanze Döhner
Apr 16, 2004·The New England Journal of Medicine·Peter J M ValkRuud Delwel
Dec 25, 2004·Leukemia·D-C LiangW-H Chang
Mar 5, 2005·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Liang-In LinHwei-Fang Tien
Aug 3, 2007·Blood Cells, Molecules & Diseases·Alan D Friedman
Oct 16, 2007·Oncogene·T Pabst, B U Mueller

❮ Previous
Next ❯

Citations

May 30, 2013·Nature Genetics·Sai-Juan ChenZhu Chen
Sep 5, 2009·Familial Cancer·R El AbedH Sobol
Nov 10, 2011·Leukemia & Lymphoma·Jonathan A Gutman, Brianna Hoffner
Aug 5, 2009·Blood Cells, Molecules & Diseases·Ota FuchsJaroslav Cermak
Jun 16, 2009·The Journal of Molecular Diagnostics : JMD·Jeung-Yeal AhnDaniel A Arber
Aug 30, 2008·British Journal of Haematology·Tobias BenthausAnnika Dufour
Jan 9, 2013·British Journal of Haematology·Carwyn DaviesJacqueline Boultwood
Jun 2, 2011·Journal of Biomedicine & Biotechnology·Håkon ReikvamØystein Bruserud
Oct 5, 2011·Blood·Anna StaffasUNKNOWN Nordic Society of Pediatric Hematology and Oncology (NOPHO)
Mar 6, 2012·Annals of Laboratory Medicine·Sollip KimHee-Jin Kim
Mar 11, 2015·International Journal of Hematology·Alan D Friedman
May 15, 2021·Frontiers in Cell and Developmental Biology·Kim KobarJason N Berman

❮ Previous
Next ❯

Related Concepts

Related Feeds

Blood And Marrow Transplantation

The use of hematopoietic stem cell transplantation or blood and marrow transplantation (bmt) is on the increase worldwide. BMT is used to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Here is the latest research on bone and marrow transplantation.

Acute Myeloid Leukaemia & RNA

Acute myeloid leukaemia (AML) is a common hematological type of cancer. As the population ages, there has been a rise in the frequency of AML. RNA expression has been used to see if there are different genetic profiles that exist within AML and whether these may underpin the variations in survival rates. Here is the latest research on AML and RNA.

AML: Role of LSD1 by CRISPR (Keystone)

Find the latest rersearrch on the ability of CRISPR-Cas9 mutagenesis to profile the interactions between lysine-specific histone demethylase 1 (LSD1) and chemical inhibitors in the context of acute myeloid leukemia (AML) here.

B-Cell Lymphoma

B-cell lymphomas include lymphomas that affect B cells. This subtype of cancer accounts for over 80% of non-Hodgkin lymphomas in the US. Here is the latest research.

Acute Myeloid Leukemia

Acute myeloid leukemia (AML) is a clinically and genetically heterogeneous disease with approximately 20,000 cases per year in the United States. AML also accounts for 15-20% of all childhood acute leukemias, while it is responsible for more than half of the leukemic deaths in these patients. Here is the latest research on this disease.