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Tang, P. CEBPA-Dependent Familial Acute Myeloid Leukemia. Encyclopedia. Available online: https://encyclopedia.pub/entry/6044 (accessed on 20 September 2026).
Tang P. CEBPA-Dependent Familial Acute Myeloid Leukemia. Encyclopedia. Available at: https://encyclopedia.pub/entry/6044. Accessed September 20, 2026.
Tang, Peter. "CEBPA-Dependent Familial Acute Myeloid Leukemia" Encyclopedia, https://encyclopedia.pub/entry/6044 (accessed September 20, 2026).
Tang, P. (2021, January 04). CEBPA-Dependent Familial Acute Myeloid Leukemia. In Encyclopedia. https://encyclopedia.pub/entry/6044
Tang, Peter. "CEBPA-Dependent Familial Acute Myeloid Leukemia." Encyclopedia. Web. 04 January, 2021.
CEBPA-Dependent Familial Acute Myeloid Leukemia
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Familial acute myeloid leukemia with mutated CEBPA is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body from infection; red blood cells (erythrocytes) that carry oxygen; and platelets (thrombocytes), which are involved in blood clotting. In acute myeloid leukemia, the bone marrow makes large numbers of abnormal, immature white blood cells called myeloid blasts. Instead of developing into normal white blood cells, the myeloid blasts develop into cancerous leukemia cells. The large number of abnormal cells in the bone marrow interferes with the production of functional white blood cells, red blood cells, and platelets.

genetic conditions

References

  1. Carmichael CL, Wilkins EJ, Bengtsson H, Horwitz MS, Speed TP, Vincent PC,Young G, Hahn CN, Escher R, Scott HS. Poor prognosis in familial acute myeloidleukaemia with combined biallelic CEBPA mutations and downstream events affectingthe ATM, FLT3 and CDX2 genes. Br J Haematol. 2010 Aug;150(3):382-5. doi:10.1111/j.1365-2141.2010.08204.x.
  2. Godley LA. Inherited predisposition to acute myeloid leukemia. Semin Hematol. 2014 Oct;51(4):306-21. doi: 10.1053/j.seminhematol.2014.08.001.
  3. Nanri T, Uike N, Kawakita T, Iwanaga E, Mitsuya H, Asou N. A family harboring a germ-line N-terminal C/EBPalpha mutation and development of acute myeloidleukemia with an additional somatic C-terminal C/EBPalpha mutation. GenesChromosomes Cancer. 2010 Mar;49(3):237-41. doi: 10.1002/gcc.20734.
  4. Nickels EM, Soodalter J, Churpek JE, Godley LA. Recognizing familial myeloidleukemia in adults. Ther Adv Hematol. 2013 Aug;4(4):254-69. doi:10.1177/2040620713487399.
  5. Owen C, Barnett M, Fitzgibbon J. Familial myelodysplasia and acute myeloidleukaemia--a review. Br J Haematol. 2008 Jan;140(2):123-32. doi:10.1111/j.1365-2141.2007.06909.x. Review.
  6. Pabst T, Eyholzer M, Haefliger S, Schardt J, Mueller BU. Somatic CEBPAmutations are a frequent second event in families with germline CEBPA mutationsand familial acute myeloid leukemia. J Clin Oncol. 2008 Nov 1;26(31):5088-93.doi: 10.1200/JCO.2008.16.5563.
  7. Pabst T, Mueller BU, Zhang P, Radomska HS, Narravula S, Schnittger S, Behre G,Hiddemann W, Tenen DG. Dominant-negative mutations of CEBPA, encodingCCAAT/enhancer binding protein-alpha (C/EBPalpha), in acute myeloid leukemia. NatGenet. 2001 Mar;27(3):263-70.
  8. Renneville A, Mialou V, Philippe N, Kagialis-Girard S, Biggio V, Zabot MT,Thomas X, Bertrand Y, Preudhomme C. Another pedigree with familial acute myeloid leukemia and germline CEBPA mutation. Leukemia. 2009 Apr;23(4):804-6. doi:10.1038/leu.2008.294.
  9. Smith ML, Cavenagh JD, Lister TA, Fitzgibbon J. Mutation of CEBPA in familial acute myeloid leukemia. N Engl J Med. 2004 Dec 2;351(23):2403-7.
  10. Tawana K, Fitzgibbon J. CEBPA-Associated Familial Acute Myeloid Leukemia(AML). 2010 Oct 21 [updated 2016 Apr 28]. In: Adam MP, Ardinger HH, Pagon RA,Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet].Seattle (WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK47457/
  11. West AH, Godley LA, Churpek JE. Familial myelodysplastic syndrome/acuteleukemia syndromes: a review and utility for translational investigations. Ann N Y Acad Sci. 2014 Mar;1310:111-8. doi: 10.1111/nyas.12346.Review.
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