Disease evolution and outcomes in familial AML with germline CEBPA mutations.

doi:10.1182/blood-2015-05-647172

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Article

Disease evolution and outcomes in familial AML with germline CEBPA mutations.

Blood - 3 Sept 2015

Tawana Kiran, Wang Jun, Renneville Aline, Bödör Csaba, Hills Robert, Loveday Chey, Savic Aleksandar, Van Delft Frederik W, Treleaven Jennifer, Georgiades Panayiotis, Uglow Elizabeth, Asou Norio, Uike Naokuni, Debeljak Maruša, Jazbec Janez, Ancliff Philip, Gale Rosemary, Thomas Xavier, Mialou Valerie, Döhner Konstanze, Bullinger Lars, Mueller Beatrice, Pabst Thomas, Stelljes Matthias, Schlegelberger Brigitte, Wozniak Eva, Iqbal Sameena, Okosun Jessica, Araf Shamzah, Frank Anne-Katrine, Lauridsen Felicia B, Porse Bo, Nerlov Claus, Owen Carolyn, Dokal Inderjeet, Gribben John, Smith Matthew, Preudhomme Claude, Chelala Claude, Cavenagh Jamie, Fitzgibbon Jude

Abstract excerpt

In-depth molecular investigation of familial leukemia has been limited by the rarity of recognized cases. This study examines the genetic events initiating leukemia and details the clinical progression of disease across multiple families harboring germ-line CEBPA mutations. Clinical data were collected from 10 CEBPA-mutated families, representing 24 members with acute myeloid leukemia (AML). Whole-exome (WES) and...

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Identifiers

PMID: 26162409
DOI: 10.1182/blood-2015-05-647172

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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