250
Views
64
CrossRef citations to date
0
Altmetric
Original Article

Familial Mutations of the Transcription Factor RUNX1 (AML1, CBFA2) Predispose to Acute Myeloid Leukemia

, &
Pages 1-10 | Received 20 Apr 2003, Published online: 03 Aug 2009

Keep up to date with the latest research on this topic with citation updates for this article.

Read on this site (6)

Maggie Clifford, Sarah Bannon, Erica M. Bednar, Jennifer Czerwinski, Jessica Davis, Leslie Dunnington, S. Shahrukh Hashmi & Courtney D. DiNardo. (2019) Clinical applicability of proposed algorithm for identifying individuals at risk for hereditary hematologic malignancies. Leukemia & Lymphoma 60:12, pages 3020-3027.
Read now
Nicolas Duployez, Sophie Lejeune, Aline Renneville & Claude Preudhomme. (2016) Myelodysplastic syndromes and acute leukemia with genetic predispositions: a new challenge for hematologists. Expert Review of Hematology 9:12, pages 1189-1202.
Read now
Daria V. Babushok, Monica Bessler & Timothy S. Olson. (2016) Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults. Leukemia & Lymphoma 57:3, pages 520-536.
Read now
Jane E. Churpek, Jacqueline S. Garcia, Jozef Madzo, Sarah A. Jackson, Kenan Onel & Lucy A. Godley. (2010) Identification and molecular characterization of a novel 3′ mutation in RUNX1 in a family with familial platelet disorder. Leukemia & Lymphoma 51:10, pages 1931-1935.
Read now
Joyce J Ou & Adam Bagg. (2009) Diagnostic challenges in the myelodysplastic syndromes: the current and future role of genetic and immunophenotypic studies. Expert Opinion on Medical Diagnostics 3:3, pages 275-291.
Read now
Anna Marrone & Inderjeet Dokal. (2006) Dyskeratosis congenita: a disorder of telomerase deficiency and its relationship to other diseases. Expert Review of Dermatology 1:3, pages 463-479.
Read now

Articles from other publishers (58)

Nathalie Gachard, Marina Lafage-Pochitaloff, Julie Quessada, Nathalie Auger & Marie-Agnès Collonge-Rame. (2023) Cytogenetics in the management of hematologic neoplasms with germline predisposition: guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH). Current Research in Translational Medicine 71:4, pages 103416.
Crossref
Claire C. Homan, Hamish S. Scott & Anna L. Brown. (2023) Hereditary platelet disorders associated with germ line variants in RUNX1 , ETV6 , and ANKRD26 . Blood 141:13, pages 1533-1543.
Crossref
Valérie Coiteux, Laurène Fenwarth, Nicolas Duployez, Malika Ainaoui, Cécile Borel, Alice Polomeni, Ibrahim Yakoub-Agha & Yves Chalandon. (2023) Conduite à tenir devant une prédisposition génétique aux hémopathies malignes chez un patient candidat à l’allogreffe de cellules souches hématopoïétiques (CSH) : recommandations de la SFGM-TC. Bulletin du Cancer 110:2, pages S13-S29.
Crossref
Julia T. Warren & Jorge Di Paola. (2022) Genetics of inherited thrombocytopenias. Blood 139:22, pages 3264-3277.
Crossref
Silvia Ferrari, Daniela Regazzo, Elisabetta Omenetto, Carla Scaroni, Gianpietro Semenzato, Fabrizio Fabris & Fabrizio Vianello. (2020) A novel RUNX1 mutation with ANKRD26 dysregulation is related to thrombocytopenia in a sporadic form of myelodysplastic syndrome. Aging Clinical and Experimental Research 33:7, pages 1987-1992.
Crossref
Rina Kansal. (2021) Germline Predisposition to Myeloid Neoplasms in Inherited Bone Marrow Failure Syndromes, Inherited Thrombocytopenias, Myelodysplastic Syndromes and Acute Myeloid Leukemia: Diagnosis and Progression to Malignancy. Journal of Hematology Research 8, pages 11-38.
Crossref
Tracy I. George & Ashish Bajel. (2021) Diagnosis of rare subtypes of acute myeloid leukaemia and related neoplasms. Pathology 53:3, pages 312-327.
Crossref
Nabin Karki, Natasha Savage & Abdullah Kutlar. (2021) Novel Germline RUNX1 Mutation Associated with Familial Thrombocytopenia as well as B-Acute Lymphoblastic Leukemia: A Case Report and Review of the Literature. Case Reports in Oncology 14:1, pages 439-445.
Crossref
Jennie Vagher, Luke Maese, Amanda Gammon, Wendy Kohlmann & Joshua D. Schiffman. 2021. The Hereditary Basis of Childhood Cancer. The Hereditary Basis of Childhood Cancer 315 360 .
Sharon A. Savage, Lisa J. McReynolds, Marena R. Niewisch, Burak Altintas, D. Matthew Gianferante & Blanche P. Alter. 2021. The Hereditary Basis of Childhood Cancer. The Hereditary Basis of Childhood Cancer 267 314 .
Masoumeh Javadlar, Saba Dastar, Jalal Gharesouran, Soudeh Ghafouri-Fard, Hassan Hosseinzadeh, Mohsen Moradi, Shamsi Abdi Mazraeh, Fereshteh Nasiri Ganjineh Ketab, Azim Rezamand, Amirataollah Hiradfar, Mohammad Taheri & Maryam Rezazadeh. (2020) RUNX1 variant as a genetic predisposition factor for acute myeloid leukemia. Experimental and Molecular Pathology 115, pages 104440.
Crossref
Anna L. Brown, Christopher N. Hahn & Hamish S. Scott. (2020) Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA). Blood 136:1, pages 24-35.
Crossref
Shirley V. Hodgson. 2020. Clinical Molecular Medicine. Clinical Molecular Medicine 423 436 .
Karen M Chisholm, Christopher Denton, Sioban Keel, Amy E Geddis, Min Xu, Burton E Appel, Alan B Cantor, Mark D Fleming & Akiko Shimamura. (2019) Bone Marrow Morphology Associated With Germline RUNX1 Mutations in Patients With Familial Platelet Disorder With Associated Myeloid Malignancy . Pediatric and Developmental Pathology 22:4, pages 315-328.
Crossref
Rory M. Shallis, Rong Wang, Amy Davidoff, Xiaomei Ma & Amer M. Zeidan. (2019) Epidemiology of acute myeloid leukemia: Recent progress and enduring challenges. Blood Reviews 36, pages 70-87.
Crossref
Hind Rafei & Courtney D. DiNardo. (2019) Hereditary myeloid malignancies. Best Practice & Research Clinical Haematology 32:2, pages 163-176.
Crossref
Pallavi Galera, Alina Dulau‐Florea & Katherine R. Calvo. (2019) Inherited thrombocytopenia and platelet disorders with germline predisposition to myeloid neoplasia. International Journal of Laboratory Hematology 41:S1, pages 131-141.
Crossref
Juehua GaoShunyou GongYi-Hua Chen. (2018) Myeloid Neoplasm With Germline Predisposition: A 2016 Update for Pathologists. Archives of Pathology & Laboratory Medicine 143:1, pages 13-22.
Crossref
Katarzyna Derwich, Dorothy Mitkowski & Jolanta Skalska-Sadowska. 2018. Myeloid Leukemia. Myeloid Leukemia.
Daniel A. Arber. 2018. Hematopathology. Hematopathology 429 466.e5 .
Yoshihiro Hayashi, Yuka Harada, Gang Huang & Hironori Harada. (2017) Myeloid neoplasms with germ line RUNX1 mutation. International Journal of Hematology 106:2, pages 183-188.
Crossref
Elissa Furutani & Akiko Shimamura. (2017) Germline Genetic Predisposition to Hematologic Malignancy. Journal of Clinical Oncology 35:9, pages 1018-1028.
Crossref
R. Katherine Hyde, Paul Liu & Alan D. Friedman. 2017. RUNX Proteins in Development and Cancer. RUNX Proteins in Development and Cancer 265 282 .
Chi Young Ok, Vasiliki Leventaki, Sa A. Wang, Courtney Dinardo, L. Jeffrey Medeiros & Sergej Konoplev. (2016) Detection of an Abnormal Myeloid Clone by Flow Cytometry in Familial Platelet Disorder With Propensity to Myeloid Malignancy. American Journal of Clinical Pathology 145:2, pages 271-276.
Crossref
James M. Ziai & Alexa J. Siddon. (2015) Pathology Consultation on Gene Mutations in Acute Myeloid Leukemia. American Journal of Clinical Pathology 144:4, pages 539-554.
Crossref
Xiongwei Cai, Long Gao, Li Teng, Jingping Ge, Zaw Min Oo, Ashish R. Kumar, D. Gary Gilliland, Philip J. Mason, Kai Tan & Nancy A. Speck. (2015) Runx1 Deficiency Decreases Ribosome Biogenesis and Confers Stress Resistance to Hematopoietic Stem and Progenitor Cells. Cell Stem Cell 17:2, pages 165-177.
Crossref
Peter H. Wiernik. (2015) Familial Leukemias. Current Treatment Options in Oncology 16:2.
Crossref
Luca Mazzarella, Laura Riva, Lucilla Luzi, Chiara Ronchini & Pier Giuseppe Pelicci. (2014) The Genomic and Epigenomic Landscapes of AML. Seminars in Hematology 51:4, pages 259-272.
Crossref
Jon P. ConnellyErika M. KwonYongxing GaoNiraj S. TrivediAbdel G. Elkahloun, Marshall S. Horwitz, Linzhao ChengP. Paul Liu. (2014) Targeted correction of RUNX1 mutation in FPD patient-specific induced pluripotent stem cells rescues megakaryopoietic defects. Blood 124:12, pages 1926-1930.
Crossref
K. J. Smock & S. L. Perkins. (2014) Thrombocytopenia: an update. International Journal of Laboratory Hematology 36:3, pages 269-278.
Crossref
Shirley V. Hodgson, William D. Foulkes, Charis Eng & Eamonn R. MaherShirley V. Hodgson, William D. Foulkes, Charis Eng & Eamonn R. Maher. 2014. A Practical Guide to Human Cancer Genetics. A Practical Guide to Human Cancer Genetics 145 165 .
Riten Kumar & Walter H.A. Kahr. (2013) Congenital Thrombocytopenia. Hematology/Oncology Clinics of North America 27:3, pages 465-494.
Crossref
Alastair Lawrie, David A.J. Stevenson, Tamasin N. Doig, Mark A. Vickers & Dominic J. Culligan. (2012) Acute myeloid leukemia presenting in a mother and daughter pair with the identical acquired karyotypic abnormality consisting of inversion 3q21q26 and monosomy 7: a review of possible mechanisms. Cancer Genetics 205:11, pages 599-602.
Crossref
Henrik Hasle. 2013. Childhood Leukemias. Childhood Leukemias 429 443 .
Alix E. Seif, Beverly J. Lange, Jaclyn A. Biegel & Kim E. Nichols. 2013. Childhood Leukemias. Childhood Leukemias 276 308 .
Luiz Arthur Calheiros Leite, Daniela Márcia Bahia Kerbauy, Elisa Kimura & Mihoko Yamamoto. (2012) Multiples aberrant phenotypes in multiple myeloma patient expressing CD56<sup>-</sup>, CD28<sup>+</sup>,CD19<sup>+</sup>. Revista Brasileira de Hematologia e Hemoterapia 34:1, pages 66-67.
Crossref
April Sorrell, Carin Espenschied, Wei Wang, Jeffrey Weitzel, Su Chu, Pablo Parker, Juan-Sebastian Saldivar & Ravi Bhatia. (2012) Hereditary Leukemia Due to Rare <i>RUNX</i>1c Splice Variant (L472X) Presents with Eczematous Phenotype. International Journal of Clinical Medicine 03:07, pages 607-613.
Crossref
Dominique BluteauLaure GillesMorgane HilpertIléana Antony-DebréChloe JamesNajet DebiliValerie Camara-ClayetteOrianne Wagner-BallonVeronique Cordette-LagardeThomas RobertHugues RipochePatrick GoninSabina Swierczek, Josef Prchal, William VainchenkerRemi Favier & Hana Raslova. (2011) Down-regulation of the RUNX1-target gene NR4A3 contributes to hematopoiesis deregulation in familial platelet disorder/acute myelogenous leukemia. Blood 118:24, pages 6310-6320.
Crossref
Henrik Hasle & Charlotte M. Niemeyer. (2011) Advances in the prognostication and management of advanced MDS in children. British Journal of Haematology 154:2, pages 185-195.
Crossref
Catherine P.M. Hayward. (2011) Diagnostic evaluation of platelet function disorders. Blood Reviews 25:4, pages 169-173.
Crossref
Eleanor S. Click, Barbara Cox, Susan B. Olson, Markus Grompe, Yassmine Akkari, Lisa A. Moreau, Akiko Shimamura, Darci L. Sternen, Yajuan J. Liu, Kathleen A. Leppig, Dana C. Matthews & Melissa A. Parisi. (2011) Fanconi anemia‐like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene . American Journal of Medical Genetics Part A 155:7, pages 1673-1679.
Crossref
Alix E. Seif. (2011) Pediatric leukemia predisposition syndromes: clues to understanding leukemogenesis. Cancer Genetics 204:5, pages 227-244.
Crossref
Sebastian Stintzing, Ralf Kemmerling, Tobias Kiesslich, Beate Alinger, Matthias Ocker & Daniel Neureiter. (2011) Myelodysplastic Syndrome and Histone Deacetylase Inhibitors: “To Be or Not to Be Acetylated”?. Journal of Biomedicine and Biotechnology 2011, pages 1-15.
Crossref
Henrik Hasle. 2011. The Myelodysplastic Syndromes. The Myelodysplastic Syndromes 253 278 .
Pavel Burda, Nikola Curik, Juraj Kokavec, Petra Basova, Dana Mikulenkova, Arthur I. Skoultchi, Jiri Zavadil & Tomas Stopka. (2009) PU.1 Activation Relieves GATA-1–Mediated Repression of Cebpa and Cbfb during Leukemia Differentiation . Molecular Cancer Research 7:10, pages 1693-1703.
Crossref
Claude PreudhommeAline RennevilleViolaine BourdonNathalie PhilippeCatherine Roche-LestienneNicolas BoisselNathalie DhedinJean-Marie AndréPascale Cornillet-Lefebvre, André Baruchel, Marie-Joelle MozziconacciHagay Sobol. (2009) High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. Blood 113:22, pages 5583-5587.
Crossref
Lewis Glasser, Aurelia Meloni-Ehrig, Wesley Greaves, Kurt C. Demel & James Butera. (2009) Synchronous development of acute myeloid leukemia in recipient and donor after allogeneic bone marrow transplantation: report of a case with comments on donor evaluation. Transfusion 49:3, pages 555-562.
Crossref
Michael E. Engel & Scott W. Hiebert. 2010. Acute Myelogenous Leukemia. Acute Myelogenous Leukemia 127 147 .
Christa Fonatsch. 2008. Hereditary Tumors. Hereditary Tumors 393 410 .
Carolyn J. OwenCynthia L. TozeAnna KoochinDonna L. ForrestClayton A. SmithJane M. StevensShannon C. JacksonMan-Chiu PoonGary D. SinclairBrian LeberPeter R. E. JohnsonAnthony Macheta, John A. L. Yin, Michael J. BarnettT. Andrew ListerJude Fitzgibbon. (2008) Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood 112:12, pages 4639-4645.
Crossref
Marjan HuizingAmanda Helip-WooleyWendy WestbroekMeral Gunay-AygunWilliam A. Gahl. (2008) Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics. Annual Review of Genomics and Human Genetics 9:1, pages 359-386.
Crossref
Carolyn Owen, Michael Barnett & Jude Fitzgibbon. (2007) Familial myelodysplasia and acute myeloid leukaemia - a review. British Journal of Haematology 140:2, pages 123-132.
Crossref
Kenneth D. McMilinSusmita Dasgupta. (2007) Allogeneic Transplantation and the Risk for Transmission of Genetic Disease: The Heritable Cancer Disorders. Stem Cells and Development 16:2, pages 191-212.
Crossref
Marianne A. Juarez, Fengyun Su, Sang Chun, Mark J. Kiel & Susan E. Lyons. (2005) Distinct Roles for SCL in Erythroid Specification and Maturation in Zebrafish. Journal of Biological Chemistry 280:50, pages 41636-41644.
Crossref
Anna Marrone, Amanda Walne & Inderjeet Dokal. (2005) Dyskeratosis congenita: telomerase, telomeres and anticipation. Current Opinion in Genetics & Development 15:3, pages 249-257.
Crossref
Gareth J. Morgan & Caroline L. Alvares. (2005) Benzene and the hemopoietic stem cell. Chemico-Biological Interactions 153-154, pages 217-222.
Crossref
G S Sellick, K Pritchard-Jones, V Shepherd, J Swansbury, D Catovsky & R S Houlston. (2005) Loci other than 21q22.12 (RUNX1) and 16q21–23.2 cause familial AML. Leukemia 19:3, pages 465-466.
Crossref
B. J. Bain, A. Thomas, V. Clough, S. Ali, V. Andrews, M. Layton, C. Wong, A. Tawil & F. Hiwaizi. (2004) Report on Slide Session, British Society for Haematology, 44th Annual Scientific Meeting, Cardiff, 2004. Clinical and Laboratory Haematology 26:5, pages 309-314.
Crossref

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.